CCHCR_HUMAN
ID CCHCR_HUMAN Reviewed; 782 AA.
AC Q8TD31; A2ABH6; E9PE84; Q2TB67; Q5SQ82; Q5STE9; Q9NRK8; Q9NWY9; Q9NXJ4;
AC Q9NXK3; Q9Y6W1; Q9Y6W2;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-FEB-2004, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Coiled-coil alpha-helical rod protein 1;
DE AltName: Full=Alpha-helical coiled-coil rod protein;
DE AltName: Full=Putative gene 8 protein;
DE Short=Pg8;
GN Name=CCHCR1; Synonyms=C6orf18, HCR;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GLN-102; TRP-103;
RP TRP-109; ARG-164; ASP-275; TRP-417; CYS-575; GLN-627; HIS-639 AND CYS-776.
RX PubMed=11875053; DOI=10.1093/hmg/11.5.589;
RA Asumalahti K., Veal A., Laitinen T., Suomela S., Allen M., Elomaa O.,
RA Moser M., de Cid R., Ripatti S., Vorechovsky I., Marcusson J.A.,
RA Nakagawa H., Lazaro C., Estivill X., Capon F., Novelli G., Burden D.B.,
RA Tillman D., Powis S.H., Balendran N., Ameen M., Vaughan R.W., Heath E.K.,
RA Itkonen-Vatjus R., Jansen C., Karvonen J., Karvonen S.-L., Kivekas K.,
RA Reunala T., Snellman E., Uurasmaa T., Toftgard R., Murakami T., Otsuki M.,
RA Asahina A., Saeki H., Barbera E., Ferrandiz C., Gimenez Arnau A.,
RA Grimalt F., Puig S., Sanchez A., Palacios A., Pujol J.A., Sanchez M.,
RA Simal E., Vazquez F., Ramirez B., Saarialho-Kere U., Barker J.,
RA Trembath R., Kere J.;
RT "Coding haplotype analysis supports HCR as the putative susceptibility gene
RT for psoriasis at the MHC PSORS1 locus.";
RL Hum. Mol. Genet. 11:589-597(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-164 AND
RP ASP-275.
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-164 AND
RP ASP-275.
RA Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
RT "Genome diversity in HLA: a new strategy for detection of genetic
RT polymorphisms in expressed genes within the HLA class III and class I
RT regions.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 270-782 (ISOFORMS 1/2), AND VARIANTS ASP-275 AND
RP GLN-417.
RC TISSUE=Colon mucosa;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS TRP-103;
RP TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS TRP-109;
RP ARG-164; TRP-417; CYS-575 AND CYS-776.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 20-782 (ISOFORMS 1/2), AND
RP VARIANTS TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575 AND CYS-776.
RC TISSUE=Blood, and Lymphoblast;
RX PubMed=10545595; DOI=10.1093/hmg/8.12.2165;
RA Oka A., Tamiya G., Tomizawa M., Ota M., Katsuyama Y., Makino S., Shiina T.,
RA Yoshitome M., Lizuka M., Sasao Y., Iwashita K., Kawakubo Y., Sugai J.,
RA Ozawa A., Ohkido M., Kimura M., Bahram S., Inoko H.;
RT "Association analysis using refined microsatellite markers localizes a
RT susceptibility locus for psoriasis vulgaris within a 111kb segment
RT telomeric to the HLA-C gene.";
RL Hum. Mol. Genet. 8:2165-2170(1999).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 20-782 (ISOFORMS 1/2), AND VARIANTS ARG-164;
RP TRP-417; CYS-575 AND CYS-776.
RX PubMed=10888604; DOI=10.1093/hmg/9.10.1533;
RA Asumalahti K., Laitinen T., Itkonen-Vatjus R., Lokki M.-L., Suomela S.,
RA Snellman E., Saarialho-Kere U., Kere J.;
RT "A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly
RT polymorphic with a disease-associated susceptibility allele.";
RL Hum. Mol. Genet. 9:1533-1542(2000).
RN [9]
RP INVOLVEMENT IN PSORIASIS.
RX PubMed=14675183; DOI=10.1046/j.1523-1747.2003.12642.x;
RA Suomela S., Elomaa O., Asumalahti K., Kariniemi A.L., Karvonen S.L.,
RA Peltonen J., Kere J., Saarialho-Kere U.;
RT "HCR, a candidate gene for psoriasis, is expressed differently in psoriasis
RT and other hyperproliferative skin disorders and is downregulated by
RT interferon-gamma in keratinocytes.";
RL J. Invest. Dermatol. 121:1360-1364(2003).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [11]
RP VARIANTS GLN-102; TRP-103; TRP-109; ARG-164; GLN-179; ASP-275; THR-367;
RP TRP-417; GLN-417; CYS-575; GLN-627; VAL-733 AND CYS-776.
RX PubMed=11348465; DOI=10.1046/j.0022-202x.2001.01323.x;
RA O'Brien K.P., Holm S.J., Nilsson S., Carlen L., Rosenmuller T.,
RA Enerbaeck C., Inerot A., Staahle-Baeckdahl M.;
RT "The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.";
RL J. Invest. Dermatol. 116:750-754(2001).
CC -!- FUNCTION: May be a regulator of keratinocyte proliferation or
CC differentiation.
CC -!- INTERACTION:
CC Q8TD31; Q9NYB9: ABI2; NbExp=3; IntAct=EBI-949834, EBI-743598;
CC Q8TD31-1; Q9BVG8-5: KIFC3; NbExp=4; IntAct=EBI-21238948, EBI-14069005;
CC Q8TD31-3; Q8IZP0-5: ABI1; NbExp=5; IntAct=EBI-10175300, EBI-11743294;
CC Q8TD31-3; Q9NYB9: ABI2; NbExp=3; IntAct=EBI-10175300, EBI-743598;
CC Q8TD31-3; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-10175300, EBI-11096309;
CC Q8TD31-3; P13196: ALAS1; NbExp=3; IntAct=EBI-10175300, EBI-3905054;
CC Q8TD31-3; Q9Y2J4: AMOTL2; NbExp=3; IntAct=EBI-10175300, EBI-746752;
CC Q8TD31-3; Q9Y2J4-4: AMOTL2; NbExp=3; IntAct=EBI-10175300, EBI-10187270;
CC Q8TD31-3; X5D778: ANKRD11; NbExp=3; IntAct=EBI-10175300, EBI-17183751;
CC Q8TD31-3; A9UGY9: ATG5; NbExp=3; IntAct=EBI-10175300, EBI-10175276;
CC Q8TD31-3; Q9H1Y0: ATG5; NbExp=3; IntAct=EBI-10175300, EBI-1047414;
CC Q8TD31-3; Q12934-2: BFSP1; NbExp=3; IntAct=EBI-10175300, EBI-12123320;
CC Q8TD31-3; Q8TD16-2: BICD2; NbExp=3; IntAct=EBI-10175300, EBI-11975051;
CC Q8TD31-3; Q6QNY1: BLOC1S2; NbExp=3; IntAct=EBI-10175300, EBI-465872;
CC Q8TD31-3; Q9UL45: BLOC1S6; NbExp=3; IntAct=EBI-10175300, EBI-465781;
CC Q8TD31-3; Q96GS4: BORCS6; NbExp=3; IntAct=EBI-10175300, EBI-10193358;
CC Q8TD31-3; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-10175300, EBI-8643161;
CC Q8TD31-3; Q6P1W5: C1orf94; NbExp=4; IntAct=EBI-10175300, EBI-946029;
CC Q8TD31-3; Q9H257: CARD9; NbExp=3; IntAct=EBI-10175300, EBI-751319;
CC Q8TD31-3; Q8NA61-2: CBY2; NbExp=5; IntAct=EBI-10175300, EBI-11524851;
CC Q8TD31-3; Q68D86: CCDC102B; NbExp=6; IntAct=EBI-10175300, EBI-10171570;
CC Q8TD31-3; Q8IYE1: CCDC13; NbExp=6; IntAct=EBI-10175300, EBI-10961312;
CC Q8TD31-3; Q96JN2-2: CCDC136; NbExp=3; IntAct=EBI-10175300, EBI-10171416;
CC Q8TD31-3; Q8NCU1: CCDC197; NbExp=3; IntAct=EBI-10175300, EBI-750686;
CC Q8TD31-3; A6NC98: CCDC88B; NbExp=3; IntAct=EBI-10175300, EBI-347573;
CC Q8TD31-3; Q8TD31-3: CCHCR1; NbExp=4; IntAct=EBI-10175300, EBI-10175300;
CC Q8TD31-3; P24863: CCNC; NbExp=3; IntAct=EBI-10175300, EBI-395261;
CC Q8TD31-3; Q16543: CDC37; NbExp=3; IntAct=EBI-10175300, EBI-295634;
CC Q8TD31-3; Q01850: CDR2; NbExp=6; IntAct=EBI-10175300, EBI-1181367;
CC Q8TD31-3; Q86X02: CDR2L; NbExp=3; IntAct=EBI-10175300, EBI-11063830;
CC Q8TD31-3; Q53EZ4: CEP55; NbExp=6; IntAct=EBI-10175300, EBI-747776;
CC Q8TD31-3; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-10175300, EBI-11752486;
CC Q8TD31-3; Q96MT8-3: CEP63; NbExp=7; IntAct=EBI-10175300, EBI-11522539;
CC Q8TD31-3; Q96M91: CFAP53; NbExp=6; IntAct=EBI-10175300, EBI-742422;
CC Q8TD31-3; Q9NZN8: CNOT2; NbExp=3; IntAct=EBI-10175300, EBI-743033;
CC Q8TD31-3; Q9Y2V7: COG6; NbExp=5; IntAct=EBI-10175300, EBI-3866319;
CC Q8TD31-3; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-10175300, EBI-739773;
CC Q8TD31-3; P78358: CTAG1B; NbExp=3; IntAct=EBI-10175300, EBI-1188472;
CC Q8TD31-3; Q05D60: DEUP1; NbExp=3; IntAct=EBI-10175300, EBI-748597;
CC Q8TD31-3; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-10175300, EBI-11988027;
CC Q8TD31-3; Q9NPF5: DMAP1; NbExp=3; IntAct=EBI-10175300, EBI-399105;
CC Q8TD31-3; O60941-5: DTNB; NbExp=6; IntAct=EBI-10175300, EBI-11984733;
CC Q8TD31-3; Q96EV8: DTNBP1; NbExp=3; IntAct=EBI-10175300, EBI-465804;
CC Q8TD31-3; Q8WWB3: DYDC1; NbExp=3; IntAct=EBI-10175300, EBI-740680;
CC Q8TD31-3; Q5JST6: EFHC2; NbExp=6; IntAct=EBI-10175300, EBI-2349927;
CC Q8TD31-3; Q9NV70: EXOC1; NbExp=3; IntAct=EBI-10175300, EBI-1045313;
CC Q8TD31-3; Q96A65-2: EXOC4; NbExp=3; IntAct=EBI-10175300, EBI-17869840;
CC Q8TD31-3; Q9UPT5-1: EXOC7; NbExp=3; IntAct=EBI-10175300, EBI-6251402;
CC Q8TD31-3; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-10175300, EBI-742102;
CC Q8TD31-3; O15287: FANCG; NbExp=3; IntAct=EBI-10175300, EBI-81610;
CC Q8TD31-3; O94868-3: FCHSD2; NbExp=5; IntAct=EBI-10175300, EBI-11958845;
CC Q8TD31-3; A1L4K1: FSD2; NbExp=6; IntAct=EBI-10175300, EBI-5661036;
CC Q8TD31-3; O95995: GAS8; NbExp=3; IntAct=EBI-10175300, EBI-1052570;
CC Q8TD31-3; Q9P2W3: GNG13; NbExp=3; IntAct=EBI-10175300, EBI-11427343;
CC Q8TD31-3; Q08379: GOLGA2; NbExp=8; IntAct=EBI-10175300, EBI-618309;
CC Q8TD31-3; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-10175300, EBI-5916454;
CC Q8TD31-3; Q96CS2: HAUS1; NbExp=6; IntAct=EBI-10175300, EBI-2514791;
CC Q8TD31-3; Q9BT25: HAUS8; NbExp=5; IntAct=EBI-10175300, EBI-2558143;
CC Q8TD31-3; Q8N4P3-2: HDDC3; NbExp=3; IntAct=EBI-10175300, EBI-12037393;
CC Q8TD31-3; Q04756: HGFAC; NbExp=3; IntAct=EBI-10175300, EBI-1041722;
CC Q8TD31-3; Q9UGU5: HMGXB4; NbExp=3; IntAct=EBI-10175300, EBI-7261162;
CC Q8TD31-3; O75506: HSBP1; NbExp=6; IntAct=EBI-10175300, EBI-748664;
CC Q8TD31-3; O75031: HSF2BP; NbExp=3; IntAct=EBI-10175300, EBI-7116203;
CC Q8TD31-3; Q8IY31-3: IFT20; NbExp=3; IntAct=EBI-10175300, EBI-9091197;
CC Q8TD31-3; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-10175300, EBI-747204;
CC Q8TD31-3; Q8WYH8: ING5; NbExp=3; IntAct=EBI-10175300, EBI-488533;
CC Q8TD31-3; Q4KMZ1: IQCC; NbExp=3; IntAct=EBI-10175300, EBI-12206419;
CC Q8TD31-3; Q2KHM9: KIAA0753; NbExp=3; IntAct=EBI-10175300, EBI-2805604;
CC Q8TD31-3; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-10175300, EBI-3437878;
CC Q8TD31-3; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-10175300, EBI-14069005;
CC Q8TD31-3; A1A4E9: KRT13; NbExp=3; IntAct=EBI-10175300, EBI-10171552;
CC Q8TD31-3; P19012: KRT15; NbExp=6; IntAct=EBI-10175300, EBI-739566;
CC Q8TD31-3; P08779: KRT16; NbExp=3; IntAct=EBI-10175300, EBI-356410;
CC Q8TD31-3; P05783: KRT18; NbExp=3; IntAct=EBI-10175300, EBI-297888;
CC Q8TD31-3; P08727: KRT19; NbExp=3; IntAct=EBI-10175300, EBI-742756;
CC Q8TD31-3; Q2M2I5: KRT24; NbExp=3; IntAct=EBI-10175300, EBI-2952736;
CC Q8TD31-3; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-10175300, EBI-3044087;
CC Q8TD31-3; Q15323: KRT31; NbExp=6; IntAct=EBI-10175300, EBI-948001;
CC Q8TD31-3; O76011: KRT34; NbExp=3; IntAct=EBI-10175300, EBI-1047093;
CC Q8TD31-3; Q92764: KRT35; NbExp=3; IntAct=EBI-10175300, EBI-1058674;
CC Q8TD31-3; O76013-2: KRT36; NbExp=3; IntAct=EBI-10175300, EBI-11958506;
CC Q8TD31-3; Q6A162: KRT40; NbExp=6; IntAct=EBI-10175300, EBI-10171697;
CC Q8TD31-3; O95678: KRT75; NbExp=3; IntAct=EBI-10175300, EBI-2949715;
CC Q8TD31-3; Q96BZ8: LENG1; NbExp=3; IntAct=EBI-10175300, EBI-726510;
CC Q8TD31-3; Q68G74: LHX8; NbExp=3; IntAct=EBI-10175300, EBI-8474075;
CC Q8TD31-3; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-10175300, EBI-1216080;
CC Q8TD31-3; Q9Y6D9: MAD1L1; NbExp=6; IntAct=EBI-10175300, EBI-742610;
CC Q8TD31-3; O95983-2: MBD3; NbExp=3; IntAct=EBI-10175300, EBI-11978579;
CC Q8TD31-3; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-10175300, EBI-348259;
CC Q8TD31-3; Q9NPJ6: MED4; NbExp=6; IntAct=EBI-10175300, EBI-394607;
CC Q8TD31-3; Q96PC5: MIA2; NbExp=3; IntAct=EBI-10175300, EBI-1050253;
CC Q8TD31-3; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-10175300, EBI-10172526;
CC Q8TD31-3; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-10175300, EBI-742948;
CC Q8TD31-3; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-10175300, EBI-11522433;
CC Q8TD31-3; Q15742: NAB2; NbExp=3; IntAct=EBI-10175300, EBI-8641936;
CC Q8TD31-3; O14777: NDC80; NbExp=6; IntAct=EBI-10175300, EBI-715849;
CC Q8TD31-3; Q9GZM8: NDEL1; NbExp=3; IntAct=EBI-10175300, EBI-928842;
CC Q8TD31-3; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-10175300, EBI-10271199;
CC Q8TD31-3; Q9Y2I6: NINL; NbExp=3; IntAct=EBI-10175300, EBI-719716;
CC Q8TD31-3; Q9Y5B8: NME7; NbExp=6; IntAct=EBI-10175300, EBI-744782;
CC Q8TD31-3; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10175300, EBI-741158;
CC Q8TD31-3; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-10175300, EBI-741048;
CC Q8TD31-3; P37198: NUP62; NbExp=6; IntAct=EBI-10175300, EBI-347978;
CC Q8TD31-3; Q86Y26: NUTM1; NbExp=3; IntAct=EBI-10175300, EBI-10178410;
CC Q8TD31-3; O43482: OIP5; NbExp=3; IntAct=EBI-10175300, EBI-536879;
CC Q8TD31-3; Q15154-3: PCM1; NbExp=5; IntAct=EBI-10175300, EBI-11742977;
CC Q8TD31-3; O15212: PFDN6; NbExp=3; IntAct=EBI-10175300, EBI-356973;
CC Q8TD31-3; O75928: PIAS2; NbExp=3; IntAct=EBI-10175300, EBI-348555;
CC Q8TD31-3; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-10175300, EBI-14066006;
CC Q8TD31-3; Q99959-2: PKP2; NbExp=3; IntAct=EBI-10175300, EBI-10987518;
CC Q8TD31-3; Q6IQ23-2: PLEKHA7; NbExp=3; IntAct=EBI-10175300, EBI-12069346;
CC Q8TD31-3; P78424: POU6F2; NbExp=3; IntAct=EBI-10175300, EBI-12029004;
CC Q8TD31-3; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-10175300, EBI-1105153;
CC Q8TD31-3; Q9NQX0: PRDM6; NbExp=3; IntAct=EBI-10175300, EBI-11320284;
CC Q8TD31-3; Q2NL68: PROSER3; NbExp=5; IntAct=EBI-10175300, EBI-11336487;
CC Q8TD31-3; Q9UJ41-4: RABGEF1; NbExp=3; IntAct=EBI-10175300, EBI-14093916;
CC Q8TD31-3; Q15311: RALBP1; NbExp=3; IntAct=EBI-10175300, EBI-749285;
CC Q8TD31-3; Q96I25: RBM17; NbExp=6; IntAct=EBI-10175300, EBI-740272;
CC Q8TD31-3; Q96IZ5: RBM41; NbExp=3; IntAct=EBI-10175300, EBI-740773;
CC Q8TD31-3; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-10175300, EBI-1504830;
CC Q8TD31-3; Q6NUQ1: RINT1; NbExp=5; IntAct=EBI-10175300, EBI-726876;
CC Q8TD31-3; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-10175300, EBI-6257312;
CC Q8TD31-3; Q96NU1: SAMD11; NbExp=3; IntAct=EBI-10175300, EBI-14067109;
CC Q8TD31-3; P21673: SAT1; NbExp=6; IntAct=EBI-10175300, EBI-711613;
CC Q8TD31-3; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-10175300, EBI-455078;
CC Q8TD31-3; O60504: SORBS3; NbExp=3; IntAct=EBI-10175300, EBI-741237;
CC Q8TD31-3; Q96R06: SPAG5; NbExp=6; IntAct=EBI-10175300, EBI-413317;
CC Q8TD31-3; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-10175300, EBI-742688;
CC Q8TD31-3; Q9Y2D8: SSX2IP; NbExp=3; IntAct=EBI-10175300, EBI-2212028;
CC Q8TD31-3; Q96DR4: STARD4; NbExp=3; IntAct=EBI-10175300, EBI-17217258;
CC Q8TD31-3; Q93045: STMN2; NbExp=3; IntAct=EBI-10175300, EBI-714194;
CC Q8TD31-3; O75558: STX11; NbExp=3; IntAct=EBI-10175300, EBI-714135;
CC Q8TD31-3; Q8N0S2: SYCE1; NbExp=3; IntAct=EBI-10175300, EBI-6872807;
CC Q8TD31-3; Q9Y6A5: TACC3; NbExp=3; IntAct=EBI-10175300, EBI-2554984;
CC Q8TD31-3; O75478: TADA2A; NbExp=3; IntAct=EBI-10175300, EBI-742268;
CC Q8TD31-3; Q969V4: TEKT1; NbExp=6; IntAct=EBI-10175300, EBI-10180409;
CC Q8TD31-3; O43247-2: TEX33; NbExp=3; IntAct=EBI-10175300, EBI-12093053;
CC Q8TD31-3; Q8N6V9: TEX9; NbExp=3; IntAct=EBI-10175300, EBI-746341;
CC Q8TD31-3; Q9UBB9: TFIP11; NbExp=8; IntAct=EBI-10175300, EBI-1105213;
CC Q8TD31-3; P09493-10: TPM1; NbExp=3; IntAct=EBI-10175300, EBI-12123928;
CC Q8TD31-3; P06753: TPM3; NbExp=13; IntAct=EBI-10175300, EBI-355607;
CC Q8TD31-3; Q5VU62: TPM3; NbExp=3; IntAct=EBI-10175300, EBI-10184033;
CC Q8TD31-3; Q13077: TRAF1; NbExp=6; IntAct=EBI-10175300, EBI-359224;
CC Q8TD31-3; Q12933: TRAF2; NbExp=8; IntAct=EBI-10175300, EBI-355744;
CC Q8TD31-3; P14373: TRIM27; NbExp=3; IntAct=EBI-10175300, EBI-719493;
CC Q8TD31-3; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-10175300, EBI-2130429;
CC Q8TD31-3; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-10175300, EBI-11059915;
CC Q8TD31-3; Q99816: TSG101; NbExp=3; IntAct=EBI-10175300, EBI-346882;
CC Q8TD31-3; Q9BZW7: TSGA10; NbExp=6; IntAct=EBI-10175300, EBI-744794;
CC Q8TD31-3; Q63HK5: TSHZ3; NbExp=3; IntAct=EBI-10175300, EBI-9053916;
CC Q8TD31-3; P40222: TXLNA; NbExp=6; IntAct=EBI-10175300, EBI-359793;
CC Q8TD31-3; Q8N3L3: TXLNB; NbExp=6; IntAct=EBI-10175300, EBI-6116822;
CC Q8TD31-3; Q8N6Y0: USHBP1; NbExp=6; IntAct=EBI-10175300, EBI-739895;
CC Q8TD31-3; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-10175300, EBI-2799833;
CC Q8TD31-3; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-10175300, EBI-9031083;
CC Q8TD31-3; Q9Y3C0: WASHC3; NbExp=6; IntAct=EBI-10175300, EBI-712969;
CC Q8TD31-3; Q05516: ZBTB16; NbExp=3; IntAct=EBI-10175300, EBI-711925;
CC Q8TD31-3; Q96K21-3: ZFYVE19; NbExp=3; IntAct=EBI-10175300, EBI-10187928;
CC Q8TD31-3; Q8N5A5-2: ZGPAT; NbExp=3; IntAct=EBI-10175300, EBI-10183064;
CC Q8TD31-3; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-10175300, EBI-4395669;
CC Q8TD31-3; Q9UEG4: ZNF629; NbExp=3; IntAct=EBI-10175300, EBI-9977294;
CC Q8TD31-3; Q8N720: ZNF655; NbExp=3; IntAct=EBI-10175300, EBI-625509;
CC Q8TD31-3; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-10175300, EBI-10251462;
CC Q8TD31-3; O95229: ZWINT; NbExp=3; IntAct=EBI-10175300, EBI-1001132;
CC Q8TD31-3; A0A1U9X8X8; NbExp=3; IntAct=EBI-10175300, EBI-17234977;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TD31-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TD31-2; Sequence=VSP_038062;
CC Name=3;
CC IsoId=Q8TD31-3; Sequence=VSP_047069;
CC -!- TISSUE SPECIFICITY: Found in all tissues tested, abundantly expressed
CC in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser
CC extent in lung and placenta. Overexpressed in keratinocytes of
CC psoriatic lesions.
CC -!- POLYMORPHISM: HCR*WWCC is associated with susceptibility to psoriasis.
CC Psoriasis is a chronic inflammatory dermatosis that affects
CC approximately 2% of the population. It is a multifactorial disease
CC characterized by red, scaly skin lesions that are usually found on the
CC scalp, elbows, and knees, and may be associated with severe arthritis.
CC The lesions are caused by hyperproliferative keratinocytes and
CC infiltration of inflammatory cells into the dermis and epidermis. The
CC usual age of onset of psoriasis is between 15 and 30 years, although it
CC can present at any age. Association of HCR with psoriasis seem to be
CC due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is
CC unlikely to be directly involved in psoriasis development.
CC {ECO:0000269|PubMed:11348465}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF74221.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA81890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA82158.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAA91236.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB63313.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAC54937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- SEQUENCE CAUTION: [Isoform 2]:
CC Sequence=AAI10536.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY029160; AAK55759.1; -; mRNA.
DR EMBL; BA000025; BAB63313.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AB088104; BAC54937.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AK000204; BAA91007.1; -; mRNA.
DR EMBL; AK000217; BAA91016.1; -; mRNA.
DR EMBL; AK000533; BAA91236.1; ALT_INIT; mRNA.
DR EMBL; AL662833; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL773544; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR753819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC110535; AAI10536.1; ALT_SEQ; mRNA.
DR EMBL; AB029331; BAA81890.1; ALT_INIT; mRNA.
DR EMBL; AB029343; BAA82158.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AF216493; AAF74221.1; ALT_INIT; mRNA.
DR CCDS; CCDS43445.1; -. [Q8TD31-2]
DR CCDS; CCDS4695.1; -. [Q8TD31-1]
DR CCDS; CCDS47397.1; -. [Q8TD31-3]
DR RefSeq; NP_001099033.1; NM_001105563.1. [Q8TD31-3]
DR RefSeq; NP_001099034.1; NM_001105564.1. [Q8TD31-2]
DR RefSeq; NP_061925.2; NM_019052.3. [Q8TD31-1]
DR RefSeq; XP_011513005.1; XM_011514703.1. [Q8TD31-1]
DR RefSeq; XP_016866451.1; XM_017010962.1. [Q8TD31-1]
DR RefSeq; XP_016866452.1; XM_017010963.1. [Q8TD31-1]
DR RefSeq; XP_016866453.1; XM_017010964.1. [Q8TD31-1]
DR RefSeq; XP_016866454.1; XM_017010965.1. [Q8TD31-1]
DR RefSeq; XP_016866455.1; XM_017010966.1. [Q8TD31-1]
DR RefSeq; XP_016866456.1; XM_017010967.1. [Q8TD31-1]
DR RefSeq; XP_016866457.1; XM_017010968.1. [Q8TD31-1]
DR AlphaFoldDB; Q8TD31; -.
DR SMR; Q8TD31; -.
DR BioGRID; 120022; 229.
DR DIP; DIP-40394N; -.
DR IntAct; Q8TD31; 196.
DR MINT; Q8TD31; -.
DR STRING; 9606.ENSP00000379566; -.
DR iPTMnet; Q8TD31; -.
DR PhosphoSitePlus; Q8TD31; -.
DR BioMuta; CCHCR1; -.
DR DMDM; 42558938; -.
DR EPD; Q8TD31; -.
DR jPOST; Q8TD31; -.
DR MassIVE; Q8TD31; -.
DR MaxQB; Q8TD31; -.
DR PaxDb; Q8TD31; -.
DR PeptideAtlas; Q8TD31; -.
DR PRIDE; Q8TD31; -.
DR ProteomicsDB; 19833; -.
DR ProteomicsDB; 74228; -. [Q8TD31-1]
DR ProteomicsDB; 74229; -. [Q8TD31-2]
DR Antibodypedia; 53233; 98 antibodies from 21 providers.
DR DNASU; 54535; -.
DR Ensembl; ENST00000376266.9; ENSP00000365442.5; ENSG00000204536.15. [Q8TD31-1]
DR Ensembl; ENST00000383341.8; ENSP00000372832.4; ENSG00000206355.11.
DR Ensembl; ENST00000383527.8; ENSP00000373019.4; ENSG00000206457.10. [Q8TD31-1]
DR Ensembl; ENST00000396268.8; ENSP00000379566.3; ENSG00000204536.15. [Q8TD31-2]
DR Ensembl; ENST00000400352.7; ENSP00000383205.3; ENSG00000206355.11.
DR Ensembl; ENST00000400412.7; ENSP00000383263.3; ENSG00000206457.10. [Q8TD31-2]
DR Ensembl; ENST00000416163.6; ENSP00000408012.2; ENSG00000234114.8.
DR Ensembl; ENST00000425620.6; ENSP00000393042.2; ENSG00000234114.8.
DR Ensembl; ENST00000451521.6; ENSP00000401039.2; ENSG00000204536.15. [Q8TD31-3]
DR GeneID; 54535; -.
DR KEGG; hsa:54535; -.
DR MANE-Select; ENST00000396268.8; ENSP00000379566.3; NM_001105564.2; NP_001099034.1. [Q8TD31-2]
DR UCSC; uc003nsp.4; human. [Q8TD31-1]
DR CTD; 54535; -.
DR DisGeNET; 54535; -.
DR GeneCards; CCHCR1; -.
DR HGNC; HGNC:13930; CCHCR1.
DR HPA; ENSG00000204536; Tissue enriched (testis).
DR MIM; 605310; gene.
DR neXtProt; NX_Q8TD31; -.
DR OpenTargets; ENSG00000204536; -.
DR PharmGKB; PA134942738; -.
DR VEuPathDB; HostDB:ENSG00000204536; -.
DR eggNOG; KOG3802; Eukaryota.
DR GeneTree; ENSGT00940000153251; -.
DR InParanoid; Q8TD31; -.
DR OMA; QQETYAR; -.
DR OrthoDB; 1046571at2759; -.
DR PhylomeDB; Q8TD31; -.
DR TreeFam; TF336947; -.
DR PathwayCommons; Q8TD31; -.
DR SignaLink; Q8TD31; -.
DR BioGRID-ORCS; 54535; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; CCHCR1; human.
DR GeneWiki; CCHCR1; -.
DR GenomeRNAi; 54535; -.
DR Pharos; Q8TD31; Tbio.
DR PRO; PR:Q8TD31; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8TD31; protein.
DR Bgee; ENSG00000204536; Expressed in left testis and 95 other tissues.
DR ExpressionAtlas; Q8TD31; baseline and differential.
DR Genevisible; Q8TD31; HS.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0006611; P:protein export from nucleus; IBA:GO_Central.
DR InterPro; IPR009800; HCR.
DR PANTHER; PTHR46822; PTHR46822; 1.
DR Pfam; PF07111; HCR; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Developmental protein;
KW Differentiation; Nucleus; Reference proteome.
FT CHAIN 1..782
FT /note="Coiled-coil alpha-helical rod protein 1"
FT /id="PRO_0000089416"
FT REGION 62..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 177..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 111..303
FT /evidence="ECO:0000255"
FT COILED 344..437
FT /evidence="ECO:0000255"
FT COILED 498..691
FT /evidence="ECO:0000255"
FT COMPBIAS 62..76
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 177..202
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 203..218
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..41
FT /note="MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPP -> MWPHSAG
FT ARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRSRPLHCVPPFSPLARSSRDH
FT RNLRRRGNIDGWRQNLEPSNNVEMFPPS (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_047069"
FT VAR_SEQ 1
FT /note="M -> MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEPWRELWRWRS
FT RPLHCVPPFSPLARSSRDHRNLRRRGNIDGWRQNLEPSNNVEM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038062"
FT VARIANT 102
FT /note="R -> Q (in dbSNP:rs130075)"
FT /evidence="ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053"
FT /id="VAR_017761"
FT VARIANT 103
FT /note="R -> W (in allele HCR*WWCC; associated with
FT psoriasis; dbSNP:rs130065)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053,
FT ECO:0000269|PubMed:14574404"
FT /id="VAR_017762"
FT VARIANT 109
FT /note="R -> W (in allele HCR*WWCC; associated with
FT psoriasis; dbSNP:rs130076)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334"
FT /id="VAR_017763"
FT VARIANT 164
FT /note="S -> R (in dbSNP:rs130066)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2,
FT ECO:0000269|Ref.3"
FT /id="VAR_017764"
FT VARIANT 179
FT /note="L -> Q (in dbSNP:rs11540822)"
FT /evidence="ECO:0000269|PubMed:11348465"
FT /id="VAR_017782"
FT VARIANT 275
FT /note="E -> D (in dbSNP:rs130067)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:11348465, ECO:0000269|PubMed:11875053,
FT ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2,
FT ECO:0000269|Ref.3"
FT /id="VAR_017765"
FT VARIANT 367
FT /note="A -> T (in dbSNP:rs2027937)"
FT /evidence="ECO:0000269|PubMed:11348465"
FT /id="VAR_017783"
FT VARIANT 417
FT /note="R -> Q (in dbSNP:rs130069)"
FT /evidence="ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_017767"
FT VARIANT 417
FT /note="R -> W (in dbSNP:rs130068)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017766"
FT VARIANT 546
FT /note="K -> R (in dbSNP:rs2073720)"
FT /id="VAR_017768"
FT VARIANT 575
FT /note="G -> C (in allele HCR*WWCC; associated with
FT psoriasis; dbSNP:rs130079)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017769"
FT VARIANT 627
FT /note="R -> Q (in dbSNP:rs130072)"
FT /evidence="ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053"
FT /id="VAR_017770"
FT VARIANT 639
FT /note="Q -> H (in dbSNP:rs130074)"
FT /evidence="ECO:0000269|PubMed:11875053"
FT /id="VAR_017771"
FT VARIANT 733
FT /note="A -> V (in dbSNP:rs140560656)"
FT /evidence="ECO:0000269|PubMed:11348465"
FT /id="VAR_017784"
FT VARIANT 776
FT /note="S -> C (in allele HCR*WWCC; associated with
FT psoriasis; dbSNP:rs1576)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:10888604, ECO:0000269|PubMed:11348465,
FT ECO:0000269|PubMed:11875053, ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017772"
FT CONFLICT 20
FT /note="P -> A (in Ref. 7; BAA81890)"
FT /evidence="ECO:0000305"
FT CONFLICT 43
FT /note="H -> Y (in Ref. 4; BAA91007)"
FT /evidence="ECO:0000305"
FT CONFLICT 395
FT /note="E -> G (in Ref. 4; BAA91236)"
FT /evidence="ECO:0000305"
FT CONFLICT 472
FT /note="H -> L (in Ref. 4; BAA91007)"
FT /evidence="ECO:0000305"
FT CONFLICT 498
FT /note="V -> A (in Ref. 4; BAA91007)"
FT /evidence="ECO:0000305"
FT CONFLICT 667
FT /note="Q -> L (in Ref. 4; BAA91236)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 782 AA; 88671 MW; 0E7DE742DB57B29E CRC64;
MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS
