K0408_HUMAN
ID K0408_HUMAN Reviewed; 694 AA.
AC Q6ZU52; B3KRE5; E1P573; O43158; Q5TF20; Q7L2M2;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Uncharacterized protein KIAA0408;
GN Name=KIAA0408;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9455477; DOI=10.1093/dnares/4.5.307;
RA Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VIII. 78
RT new cDNA clones from brain which code for large proteins in vitro.";
RL DNA Res. 4:307-313(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ARG-61.
RC TISSUE=Brain, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-61.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ARG-61.
RC TISSUE=Brain;
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).
CC -!- INTERACTION:
CC Q6ZU52; Q9P2A4: ABI3; NbExp=4; IntAct=EBI-739493, EBI-742038;
CC Q6ZU52; Q8NA61-2: CBY2; NbExp=5; IntAct=EBI-739493, EBI-11524851;
CC Q6ZU52; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-739493, EBI-10961624;
CC Q6ZU52; O43559: FRS3; NbExp=3; IntAct=EBI-739493, EBI-725515;
CC Q6ZU52; P14136: GFAP; NbExp=5; IntAct=EBI-739493, EBI-744302;
CC Q6ZU52; P62993: GRB2; NbExp=3; IntAct=EBI-739493, EBI-401755;
CC Q6ZU52; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-739493, EBI-14103818;
CC Q6ZU52; O75031: HSF2BP; NbExp=5; IntAct=EBI-739493, EBI-7116203;
CC Q6ZU52; P04792: HSPB1; NbExp=3; IntAct=EBI-739493, EBI-352682;
CC Q6ZU52; P42858: HTT; NbExp=6; IntAct=EBI-739493, EBI-466029;
CC Q6ZU52; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-739493, EBI-1055254;
CC Q6ZU52; O60333-2: KIF1B; NbExp=3; IntAct=EBI-739493, EBI-10975473;
CC Q6ZU52; O14901: KLF11; NbExp=3; IntAct=EBI-739493, EBI-948266;
CC Q6ZU52; O43639: NCK2; NbExp=7; IntAct=EBI-739493, EBI-713635;
CC Q6ZU52; Q9UHB4: NDOR1; NbExp=3; IntAct=EBI-739493, EBI-10249760;
CC Q6ZU52; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-739493, EBI-6190702;
CC Q6ZU52; P07196: NEFL; NbExp=3; IntAct=EBI-739493, EBI-475646;
CC Q6ZU52; P04150: NR3C1; NbExp=2; IntAct=EBI-739493, EBI-493507;
CC Q6ZU52; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-739493, EBI-2811583;
CC Q6ZU52; P16284: PECAM1; NbExp=3; IntAct=EBI-739493, EBI-716404;
CC Q6ZU52; O43189: PHF1; NbExp=4; IntAct=EBI-739493, EBI-530034;
CC Q6ZU52; Q92569: PIK3R3; NbExp=3; IntAct=EBI-739493, EBI-79893;
CC Q6ZU52; Q9BUI4: POLR3C; NbExp=4; IntAct=EBI-739493, EBI-5452779;
CC Q6ZU52; P41219: PRPH; NbExp=3; IntAct=EBI-739493, EBI-752074;
CC Q6ZU52; P60891: PRPS1; NbExp=3; IntAct=EBI-739493, EBI-749195;
CC Q6ZU52; Q06455-2: RUNX1T1; NbExp=5; IntAct=EBI-739493, EBI-11984663;
CC Q6ZU52; O60504: SORBS3; NbExp=4; IntAct=EBI-739493, EBI-741237;
CC Q6ZU52; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-739493, EBI-7353612;
CC Q6ZU52; P08670: VIM; NbExp=4; IntAct=EBI-739493, EBI-353844;
CC Q6ZU52; O76024: WFS1; NbExp=3; IntAct=EBI-739493, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZU52-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZU52-2; Sequence=VSP_019942;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA23704.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB007868; BAA23704.2; ALT_INIT; mRNA.
DR EMBL; AK091424; BAG52357.1; -; mRNA.
DR EMBL; AK125983; BAC86375.1; -; mRNA.
DR EMBL; AL096711; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48095.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48096.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48098.1; -; Genomic_DNA.
DR EMBL; BC018396; AAH18396.2; -; mRNA.
DR CCDS; CCDS34531.1; -. [Q6ZU52-1]
DR RefSeq; NP_055517.3; NM_014702.4. [Q6ZU52-1]
DR AlphaFoldDB; Q6ZU52; -.
DR SMR; Q6ZU52; -.
DR BioGRID; 115078; 59.
DR IntAct; Q6ZU52; 58.
DR MINT; Q6ZU52; -.
DR iPTMnet; Q6ZU52; -.
DR PhosphoSitePlus; Q6ZU52; -.
DR BioMuta; KIAA0408; -.
DR DMDM; 74749666; -.
DR jPOST; Q6ZU52; -.
DR MassIVE; Q6ZU52; -.
DR MaxQB; Q6ZU52; -.
DR PaxDb; Q6ZU52; -.
DR PeptideAtlas; Q6ZU52; -.
DR PRIDE; Q6ZU52; -.
DR ProteomicsDB; 68310; -. [Q6ZU52-1]
DR ProteomicsDB; 68311; -. [Q6ZU52-2]
DR Antibodypedia; 32770; 15 antibodies from 7 providers.
DR DNASU; 9729; -.
DR Ensembl; ENST00000483725.8; ENSP00000435150.2; ENSG00000189367.15. [Q6ZU52-1]
DR GeneID; 9729; -.
DR KEGG; hsa:9729; -.
DR MANE-Select; ENST00000483725.8; ENSP00000435150.2; NM_014702.5; NP_055517.3.
DR UCSC; uc011ebs.3; human. [Q6ZU52-1]
DR CTD; 9729; -.
DR DisGeNET; 9729; -.
DR GeneCards; KIAA0408; -.
DR HGNC; HGNC:21636; KIAA0408.
DR HPA; ENSG00000189367; Tissue enhanced (brain, skeletal muscle).
DR MIM; 619236; gene.
DR neXtProt; NX_Q6ZU52; -.
DR OpenTargets; ENSG00000189367; -.
DR PharmGKB; PA134883396; -.
DR VEuPathDB; HostDB:ENSG00000189367; -.
DR eggNOG; ENOG502RJ9I; Eukaryota.
DR GeneTree; ENSGT00390000001962; -.
DR HOGENOM; CLU_024871_0_0_1; -.
DR InParanoid; Q6ZU52; -.
DR OMA; AIQSKML; -.
DR PhylomeDB; Q6ZU52; -.
DR TreeFam; TF336502; -.
DR PathwayCommons; Q6ZU52; -.
DR SignaLink; Q6ZU52; -.
DR BioGRID-ORCS; 9729; 7 hits in 1068 CRISPR screens.
DR GenomeRNAi; 9729; -.
DR Pharos; Q6ZU52; Tdark.
DR PRO; PR:Q6ZU52; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q6ZU52; protein.
DR Bgee; ENSG00000189367; Expressed in cortical plate and 102 other tissues.
DR ExpressionAtlas; Q6ZU52; baseline and differential.
DR InterPro; IPR027882; DUF4482.
DR Pfam; PF14818; DUF4482; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..694
FT /note="Uncharacterized protein KIAA0408"
FT /id="PRO_0000247177"
FT REGION 259..286
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 461..490
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 643..680
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 15..51
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..117
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9455477"
FT /id="VSP_019942"
FT VARIANT 61
FT /note="S -> R (in dbSNP:rs3734447)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_027082"
FT VARIANT 331
FT /note="S -> L (in dbSNP:rs2236026)"
FT /id="VAR_049510"
SQ SEQUENCE 694 AA; 79163 MW; 2938DEA5B7B1B693 CRC64;
MDLHKQWENT ETNWHKEKME LLDQFDNERK EWESQWKIMQ KKIEELCREV KLWRKININE
SAKIIDLYHE KTIPEKVIES SPNYPDLGQS EFIRTNHKDG LRKENKREQS LVSGGNQMCK
EQKATKKSKV GFLDPLATDN QKECEAWPDL RTSEEDSKSC SGALSTALEE LAKVSEELCS
FQEEIRKRSN HRRMKSDSFL QEMPNVTNIP HGDPMINNDQ CILPISLEKE KQKNRKNLSC
TNVLQSNSTK KCGIDTIDLK RNETPPVPPP RSTSRNFPSS DSEQAYERWK ERLDHNSWVP
HEGRSKRNYN PHFPLRQQEM SMLYPNEGKT SKDGIIFSSL VPEVKIDSKP PSNEDVGLSM
WSCDIGIGAK RSPSTSWFQK TCSTPSNPKY EMVIPDHPAK SHPDLHVSND CSSSVAESSS
PLRNFSCGFE RTTRNEKLAA KTDEFNRTVF RTDRNCQAIQ QNHSCSKSSE DLKPCDTSST
HTGSISQSND VSGIWKTNAH MPVPMENVPD NPTKKSTTGL VRQMQGHLSP RSYRNMLHEH
DWRPSNLSGR PRSADPRSNY GVVEKLLKTY ETATESALQN SKCFQDNWTK CNSDVSGGAT
LSQHLEMLQM EQQFQQKTAV WGGQEVKQGI DPKKITEESM SVNASHGKGF SRPARPANRR
LPSRWASRSP SAPPALRRTT HNYTISLRSE ALMV
