CC178_HUMAN
ID CC178_HUMAN Reviewed; 867 AA.
AC Q5BJE1; A6NDC6; J3KS92; Q6ZP67; Q6ZU20;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Coiled-coil domain-containing protein 178;
GN Name=CCDC178; Synonyms=C18orf34;
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), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 454-867 (ISOFORM 3), AND VARIANTS GLU-465 AND
RP ASN-601.
RC TISSUE=Kidney, 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=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=4;
CC Name=1;
CC IsoId=Q5BJE1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5BJE1-2; Sequence=VSP_017257;
CC Name=3;
CC IsoId=Q5BJE1-3; Sequence=VSP_017258;
CC Name=4;
CC IsoId=Q5BJE1-4; Sequence=VSP_053415;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85257.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK126038; BAC86407.1; -; mRNA.
DR EMBL; AK129955; BAC85257.1; ALT_INIT; mRNA.
DR EMBL; AC025888; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090371; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100845; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104956; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC116607; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC091517; AAH91517.1; -; mRNA.
DR CCDS; CCDS11906.1; -. [Q5BJE1-2]
DR CCDS; CCDS42424.1; -. [Q5BJE1-1]
DR RefSeq; NP_001098998.1; NM_001105528.1. [Q5BJE1-1]
DR RefSeq; NP_001295055.1; NM_001308126.1.
DR RefSeq; NP_945346.2; NM_198995.2. [Q5BJE1-2]
DR RefSeq; XP_011524250.1; XM_011525948.1.
DR RefSeq; XP_011524253.1; XM_011525951.1. [Q5BJE1-3]
DR AlphaFoldDB; Q5BJE1; -.
DR SMR; Q5BJE1; -.
DR BioGRID; 131924; 2.
DR IntAct; Q5BJE1; 1.
DR STRING; 9606.ENSP00000372576; -.
DR iPTMnet; Q5BJE1; -.
DR PhosphoSitePlus; Q5BJE1; -.
DR BioMuta; CCDC178; -.
DR DMDM; 209572750; -.
DR MassIVE; Q5BJE1; -.
DR MaxQB; Q5BJE1; -.
DR PaxDb; Q5BJE1; -.
DR PeptideAtlas; Q5BJE1; -.
DR PRIDE; Q5BJE1; -.
DR Antibodypedia; 48809; 19 antibodies from 12 providers.
DR DNASU; 374864; -.
DR Ensembl; ENST00000300227.12; ENSP00000300227.8; ENSG00000166960.17. [Q5BJE1-2]
DR Ensembl; ENST00000383096.8; ENSP00000372576.3; ENSG00000166960.17. [Q5BJE1-1]
DR Ensembl; ENST00000403303.5; ENSP00000385591.1; ENSG00000166960.17. [Q5BJE1-1]
DR Ensembl; ENST00000579947.5; ENSP00000462370.1; ENSG00000166960.17. [Q5BJE1-4]
DR GeneID; 374864; -.
DR KEGG; hsa:374864; -.
DR MANE-Select; ENST00000383096.8; ENSP00000372576.3; NM_001105528.4; NP_001098998.1.
DR UCSC; uc002kxn.3; human. [Q5BJE1-1]
DR CTD; 374864; -.
DR DisGeNET; 374864; -.
DR GeneCards; CCDC178; -.
DR HGNC; HGNC:29588; CCDC178.
DR HPA; ENSG00000166960; Tissue enhanced (adipose tissue, testis).
DR neXtProt; NX_Q5BJE1; -.
DR OpenTargets; ENSG00000166960; -.
DR PharmGKB; PA134979792; -.
DR VEuPathDB; HostDB:ENSG00000166960; -.
DR eggNOG; ENOG502R7DC; Eukaryota.
DR GeneTree; ENSGT00390000012215; -.
DR HOGENOM; CLU_012461_0_0_1; -.
DR InParanoid; Q5BJE1; -.
DR PhylomeDB; Q5BJE1; -.
DR TreeFam; TF337479; -.
DR PathwayCommons; Q5BJE1; -.
DR SignaLink; Q5BJE1; -.
DR BioGRID-ORCS; 374864; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; CCDC178; human.
DR GenomeRNAi; 374864; -.
DR Pharos; Q5BJE1; Tdark.
DR PRO; PR:Q5BJE1; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q5BJE1; protein.
DR Bgee; ENSG00000166960; Expressed in sperm and 94 other tissues.
DR ExpressionAtlas; Q5BJE1; baseline and differential.
DR Genevisible; Q5BJE1; HS.
DR GO; GO:0036064; C:ciliary basal body; IDA:GO_Central.
DR InterPro; IPR038826; CCDC178.
DR PANTHER; PTHR35088; PTHR35088; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..867
FT /note="Coiled-coil domain-containing protein 178"
FT /id="PRO_0000223316"
FT COILED 153..204
FT /evidence="ECO:0000255"
FT COILED 233..414
FT /evidence="ECO:0000255"
FT COILED 445..470
FT /evidence="ECO:0000255"
FT COILED 662..696
FT /evidence="ECO:0000255"
FT VAR_SEQ 607..644
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017257"
FT VAR_SEQ 747..796
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_017258"
FT VAR_SEQ 842..867
FT /note="EESSNLMQHILGFFQTLTDGTCENDG -> NQYDLEKE (in isoform
FT 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053415"
FT VARIANT 42
FT /note="A -> T (in dbSNP:rs12606658)"
FT /id="VAR_047010"
FT VARIANT 420
FT /note="D -> N (in dbSNP:rs58448816)"
FT /id="VAR_061624"
FT VARIANT 465
FT /note="V -> E (in dbSNP:rs9965081)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047011"
FT VARIANT 600
FT /note="L -> R (in dbSNP:rs457896)"
FT /id="VAR_047012"
FT VARIANT 601
FT /note="D -> N (in dbSNP:rs466113)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047013"
FT CONFLICT 49
FT /note="L -> I (in Ref. 1; BAC86407)"
FT /evidence="ECO:0000305"
FT CONFLICT 368
FT /note="K -> E (in Ref. 1; BAC86407)"
FT /evidence="ECO:0000305"
FT CONFLICT 768
FT /note="I -> F (in Ref. 1; BAC86407)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 867 AA; 102011 MW; 665719B544E55E9B CRC64;
MTENKTVSSS STRDDQTNIG LTCQEVKALR EKAWSRTNEG NAMSQSLVLY GASKENSEGF
HESKMTNTEG VNKGIYFSYP CRRHSCAVVN IPAPCVNKMI SHIQDVESKI QEHLKRFETS
FEEWSRTSST KDLKEDWSVT TPVKEVKPGE KRDEKCPELK QEMETLLSEA IRLIKSLETD
RADAEEALKQ QRSRKNMINM KIDSWSVWKL QELPLAVQKE HEAYLSDVIE LQWHLEDKAN
QLQHFEKQKT ELEEANAKIQ ADIDYMNEHG PLLDSKQNQE LQDLKNHYKK KMEVMDLHRK
VNEELEEALE ACENARLKAQ QIKEEIDKDI YQDEKTIEAY KREIYQLNSL FDHYSSSVIN
VNTNIEEKEE EVTEAIRETK SSKNELHSLS KMLEDLRRVY DQLTWKQKSH ENQYLEAVND
FYAAKKTWDI ELSDVAKDFS AISLACTKLT EDNKKLEIDI NKITVKTNES IRKKSKYESE
IKYLTIMKLK NDKHLKNIYK EAYRIGTLFH LTKHKTDEME DKIAEVRRKF KGREEFLKKL
TQGEVAAGMV LQKKLYSIYE VQALERKELI KNRAICAMSL AELQEPLLQL EDEAERIRSL
DKEHSVMLNN IIDQKDLIRR KVGKVKKKLR KKGKKTLDAL IETESKRSAI FKDLEATKSK
TMIFYAKINE LNEELKAKEE EKKSFDQTLE ILKNKFITMR FKREHAQTVF DHYMQEKKDC
EERIFEEDQR FRVLLAVRQK TLQDTQKIIA DSLEENLRLA QEYQQLQITF LKEKDNYFNI
YDKQLSLDTS IRDKKQLCQL QRRMHTLWQE HFKLVVLFSQ MRLANFQTDS QESIQKILAV
QEESSNLMQH ILGFFQTLTD GTCENDG
