CC171_HUMAN
ID CC171_HUMAN Reviewed; 1326 AA.
AC Q6TFL3; B7ZM22; Q5SU58; Q6P1W1; Q6ZR13; Q8N1Z4; Q8N8L3; Q8TBR2;
DT 02-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Coiled-coil domain-containing protein 171;
GN Name=CCDC171; Synonyms=C9orf93;
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).
RA Huang C.Q., Wu S.L., Liu S.;
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 475-1326 (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 752-1326 (ISOFORM 2), AND VARIANT ARG-1069.
RC TISSUE=Brain cortex, Fetal brain, and Trachea;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 494-1326 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 805-1203 (ISOFORM 2), AND VARIANTS ASN-17 AND ARG-1069.
RC TISSUE=Lung, and Testis;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6TFL3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6TFL3-3; Sequence=VSP_014445, VSP_014446;
CC Name=3;
CC IsoId=Q6TFL3-4; Sequence=VSP_043768;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC87511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY422473; AAR13704.1; -; mRNA.
DR EMBL; AL359877; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513423; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL592153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK094506; BAC04370.1; ALT_INIT; mRNA.
DR EMBL; AK096586; BAC04823.1; ALT_INIT; mRNA.
DR EMBL; AK128581; BAC87511.1; ALT_INIT; mRNA.
DR EMBL; BC026063; AAH26063.2; -; mRNA.
DR EMBL; BC064849; AAH64849.1; -; mRNA.
DR EMBL; BC144214; AAI44215.1; -; mRNA.
DR EMBL; BC150600; AAI50601.1; -; mRNA.
DR CCDS; CCDS6481.1; -. [Q6TFL3-1]
DR RefSeq; NP_775821.2; NM_173550.3. [Q6TFL3-1]
DR RefSeq; XP_005251454.1; XM_005251397.2. [Q6TFL3-4]
DR RefSeq; XP_005251455.1; XM_005251398.3. [Q6TFL3-4]
DR RefSeq; XP_005251456.1; XM_005251399.4. [Q6TFL3-4]
DR RefSeq; XP_011516090.1; XM_011517788.2. [Q6TFL3-4]
DR AlphaFoldDB; Q6TFL3; -.
DR SMR; Q6TFL3; -.
DR BioGRID; 128459; 6.
DR IntAct; Q6TFL3; 3.
DR STRING; 9606.ENSP00000370077; -.
DR GlyGen; Q6TFL3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6TFL3; -.
DR PhosphoSitePlus; Q6TFL3; -.
DR BioMuta; CCDC171; -.
DR DMDM; 71658803; -.
DR EPD; Q6TFL3; -.
DR jPOST; Q6TFL3; -.
DR MassIVE; Q6TFL3; -.
DR PaxDb; Q6TFL3; -.
DR PeptideAtlas; Q6TFL3; -.
DR PRIDE; Q6TFL3; -.
DR ProteomicsDB; 67389; -. [Q6TFL3-1]
DR ProteomicsDB; 67390; -. [Q6TFL3-3]
DR ProteomicsDB; 67391; -. [Q6TFL3-4]
DR Antibodypedia; 10105; 56 antibodies from 9 providers.
DR DNASU; 203238; -.
DR Ensembl; ENST00000380701.8; ENSP00000370077.3; ENSG00000164989.17. [Q6TFL3-1]
DR GeneID; 203238; -.
DR KEGG; hsa:203238; -.
DR MANE-Select; ENST00000380701.8; ENSP00000370077.3; NM_173550.4; NP_775821.2.
DR UCSC; uc003zmd.4; human. [Q6TFL3-1]
DR CTD; 203238; -.
DR DisGeNET; 203238; -.
DR GeneCards; CCDC171; -.
DR HGNC; HGNC:29828; CCDC171.
DR HPA; ENSG00000164989; Tissue enhanced (testis).
DR neXtProt; NX_Q6TFL3; -.
DR OpenTargets; ENSG00000164989; -.
DR PharmGKB; PA134921892; -.
DR VEuPathDB; HostDB:ENSG00000164989; -.
DR eggNOG; ENOG502QT2H; Eukaryota.
DR GeneTree; ENSGT00390000007924; -.
DR HOGENOM; CLU_007506_0_0_1; -.
DR InParanoid; Q6TFL3; -.
DR OMA; CRRFECD; -.
DR OrthoDB; 333370at2759; -.
DR PhylomeDB; Q6TFL3; -.
DR TreeFam; TF330625; -.
DR PathwayCommons; Q6TFL3; -.
DR SignaLink; Q6TFL3; -.
DR BioGRID-ORCS; 203238; 7 hits in 1073 CRISPR screens.
DR ChiTaRS; CCDC171; human.
DR GenomeRNAi; 203238; -.
DR Pharos; Q6TFL3; Tdark.
DR PRO; PR:Q6TFL3; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6TFL3; protein.
DR Bgee; ENSG00000164989; Expressed in left testis and 113 other tissues.
DR ExpressionAtlas; Q6TFL3; baseline and differential.
DR Genevisible; Q6TFL3; HS.
DR InterPro; IPR038820; CCDC171.
DR PANTHER; PTHR47899; PTHR47899; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1326
FT /note="Coiled-coil domain-containing protein 171"
FT /id="PRO_0000089727"
FT REGION 1306..1326
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 53..294
FT /evidence="ECO:0000255"
FT COILED 323..391
FT /evidence="ECO:0000255"
FT COILED 450..561
FT /evidence="ECO:0000255"
FT COILED 597..630
FT /evidence="ECO:0000255"
FT COILED 660..707
FT /evidence="ECO:0000255"
FT COILED 765..792
FT /evidence="ECO:0000255"
FT COILED 979..1143
FT /evidence="ECO:0000255"
FT COILED 1217..1241
FT /evidence="ECO:0000255"
FT VAR_SEQ 475
FT /note="E -> ELNSMNDVK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043768"
FT VAR_SEQ 1201..1229
FT /note="AMIKSFMDVYQLASTRIMTLEKEMTSHRS -> VRVQWCDHSSLQSQMPGLK
FT QSSCLSLLST (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014445"
FT VAR_SEQ 1230..1326
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014446"
FT VARIANT 17
FT /note="I -> N (in dbSNP:rs443563)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_022803"
FT VARIANT 121
FT /note="S -> T (in dbSNP:rs4741510)"
FT /id="VAR_022804"
FT VARIANT 495
FT /note="N -> I (in dbSNP:rs10962127)"
FT /id="VAR_033685"
FT VARIANT 821
FT /note="C -> Y (in dbSNP:rs34816651)"
FT /id="VAR_050841"
FT VARIANT 1069
FT /note="K -> R (in dbSNP:rs1539172)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022805"
FT CONFLICT 417
FT /note="C -> R (in Ref. 4; AAI50601/AAI44215)"
FT /evidence="ECO:0000305"
FT CONFLICT 475
FT /note="E -> K (in Ref. 3; BAC87511)"
FT /evidence="ECO:0000305"
FT CONFLICT 823
FT /note="S -> T (in Ref. 3; BAC04823)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1326 AA; 152810 MW; 27116BFFDBBD46F8 CRC64;
MNLNTSSNTG DTQRLKIASL DVKQILKNET ELDITDNLRK KLHWAKKEKL EITTKHNAEL
ASYESQIAKL RSEVEKGEAL RQSLEYDLAV ARKEAGLGRR AAEERLAEAH RIQEKLCAQN
SELQAKTNET EKAFQTSQQK WKEECRRFEH DLEERDNMIQ NCNREYDLLM KEKSRLEKTL
QEALEKHQRE KNEMESHIRE TALEEFRLQE EQWEAERREL QFIVQEQDTA VQNMHKKVEK
LETEHMDCSD LLRRQTSELE FSTQREERLR KEFEATTLRV RKLEENIEAE RAAHLESKFN
SEIIQLRIRD LEGALQVEKA SQAEAVADLE IIKNEFKEVE SAYEREKHNA QESFAKLNLL
EKEYFSKNKK LNEDIEEQKK VIIDLSKRLQ YNEKSCSELQ EELVMAKKHQ AFLVETCENN
VKELESILDS FTVSGQWTSG IHKDKDKPPS FSVVLERLRR TLTDYQNKLE DASNEEKACN
ELDSTKQKID SHTKNIKELQ DKLADVNKEL SHLHTKCADR EALISTLKVE LQNVLHCWEK
EKAQAAQSES ELQKLSQAFH KDAEEKLTFL HTLYQHLVAG CVLIKQPEGM LDKFSWSELC
AVLQENVDAL IADLNRANEK IRHLEYICKN KSDTMRELQQ TQEDTFTKVA EQIKAQESCW
HRQKKELELQ YSELFLEVQK RAQKFQEIAE KNMEKLNHIE KSHEQLVLEN SHFKKLLSQT
QREQMSLLAA CALMAGALYP LYSRSCALST QRDFLQEQVN TFELFKLEIR TLAQALSTVE
EKKQEEAKMK KKTFKGLIRI FRKGVIAVLA ANRLKILGQS CASLFTWMES FKEGIGMLVC
TGEPQDKHKF PKHQKEQLRC LQALSWLTSS DLLAAIISSM AELQDVIGKA DPNSRICGHL
LIGAAKNSFA KLMDKISLVM ECIPLHSSRS ITYVEKDSLV QRLAHGLHKV NTLALKYGLR
GHVPITKSTA SLQKQILGFT QRLHAAEVER RSLRLEVTEF KRSVNEMKKE LDKAQGLQMQ
LNEFKQSKLI THEKFESACE ELNNALLREE QAQMLLNEQA QQLQELNYKL ELHSSEEADK
NQTLGEAVKS LSEAKMELRR KDQSLRQLNR HLTQLEQDKR RLEENIHDAE SALRMAAKDK
ECVANHMRAV ENTLHKVRDQ ISLSWSAASR NDFTLQLPKL HLETFAMEGL KGGPEVVACQ
AMIKSFMDVY QLASTRIMTL EKEMTSHRSH IAALKSELHT ACLRENASLQ SIGSRDHSNL
SIPSRAPLPA DTTGIGDFLP LKAELDTTYT FLKETFINTV PHALTSSHSS PVTMSANANR
PTQIGL
