CC180_HUMAN
ID CC180_HUMAN Reviewed; 1701 AA.
AC Q9P1Z9; Q2KHR6; Q5VV25; Q68DP5; Q69YV9; Q6AHY0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 3.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Coiled-coil domain-containing protein 180;
GN Name=CCDC180; Synonyms=C9orf174, KIAA1529;
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=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-583 (ISOFORM 2).
RC TISSUE=Uterus;
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=2;
CC Name=2;
CC IsoId=Q9P1Z9-2; Sequence=Displayed;
CC Name=3;
CC IsoId=Q9P1Z9-3; Sequence=VSP_059687;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI12931.1; Type=Miscellaneous discrepancy; Note=Readthrough transcript which is the product of an upstream read-through pseudogene (SUGT1P4-STRA6LP) with CCDC180.; Evidence={ECO:0000305};
CC Sequence=BAA96053.1; Type=Miscellaneous discrepancy; Note=Readthrough transcript which is the product of an upstream read-through pseudogene (SUGT1P4-STRA6LP) with CCDC180.; Evidence={ECO:0000305};
CC Sequence=CAH10534.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAH10534.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=CAH18175.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB040962; BAA96053.1; ALT_SEQ; mRNA.
DR EMBL; AL137557; CAH10701.1; -; mRNA.
DR EMBL; CR627453; CAH10534.1; ALT_SEQ; mRNA.
DR EMBL; CR749320; CAH18175.1; ALT_INIT; mRNA.
DR EMBL; AL512590; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW58840.1; -; Genomic_DNA.
DR EMBL; BC112930; AAI12931.1; ALT_SEQ; mRNA.
DR RefSeq; NP_065944.2; NM_020893.3.
DR AlphaFoldDB; Q9P1Z9; -.
DR SMR; Q9P1Z9; -.
DR IntAct; Q9P1Z9; 23.
DR MINT; Q9P1Z9; -.
DR STRING; 9606.ENSP00000434727; -.
DR iPTMnet; Q9P1Z9; -.
DR PhosphoSitePlus; Q9P1Z9; -.
DR BioMuta; CCDC180; -.
DR DMDM; 166218818; -.
DR EPD; Q9P1Z9; -.
DR jPOST; Q9P1Z9; -.
DR MassIVE; Q9P1Z9; -.
DR MaxQB; Q9P1Z9; -.
DR PaxDb; Q9P1Z9; -.
DR PeptideAtlas; Q9P1Z9; -.
DR PRIDE; Q9P1Z9; -.
DR ProteomicsDB; 83689; -. [Q9P1Z9-2]
DR ProteomicsDB; 83690; -. [Q9P1Z9-3]
DR DNASU; 100499483; -.
DR GeneID; 100499483; -.
DR KEGG; hsa:100499483; -.
DR UCSC; uc004axg.3; human. [Q9P1Z9-2]
DR CTD; 100499483; -.
DR DisGeNET; 100499483; -.
DR GeneCards; CCDC180; -.
DR HGNC; HGNC:29303; CCDC180.
DR neXtProt; NX_Q9P1Z9; -.
DR PharmGKB; PA165585576; -.
DR VEuPathDB; HostDB:ENSG00000197816; -.
DR eggNOG; ENOG502QT47; Eukaryota.
DR HOGENOM; CLU_003321_0_0_1; -.
DR InParanoid; Q9P1Z9; -.
DR PhylomeDB; Q9P1Z9; -.
DR TreeFam; TF329281; -.
DR PathwayCommons; Q9P1Z9; -.
DR SignaLink; Q9P1Z9; -.
DR Pharos; Q9P1Z9; Tdark.
DR PRO; PR:Q9P1Z9; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q9P1Z9; protein.
DR Genevisible; Q9P1Z9; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR InterPro; IPR026701; CCDC180.
DR InterPro; IPR028089; DUF4455.
DR InterPro; IPR027914; DUF4456.
DR PANTHER; PTHR21444:SF14; PTHR21444:SF14; 1.
DR Pfam; PF14643; DUF4455; 1.
DR Pfam; PF14644; DUF4456; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1701
FT /note="Coiled-coil domain-containing protein 180"
FT /id="PRO_0000315233"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 657..808
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1272..1291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1319..1354
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 171..198
FT /evidence="ECO:0000255"
FT COILED 757..804
FT /evidence="ECO:0000255"
FT COMPBIAS 721..738
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 767..808
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1332..1348
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..1578
FT /note="Missing (in isoform 3)"
FT /id="VSP_059687"
FT VARIANT 162
FT /note="P -> H (in dbSNP:rs7864805)"
FT /id="VAR_038151"
FT VARIANT 183
FT /note="S -> R (in dbSNP:rs17855671)"
FT /id="VAR_038152"
FT VARIANT 234
FT /note="L -> H (in dbSNP:rs10981558)"
FT /id="VAR_038153"
FT VARIANT 409
FT /note="P -> R (in dbSNP:rs61261278)"
FT /id="VAR_061250"
FT VARIANT 778
FT /note="E -> K (in dbSNP:rs12353306)"
FT /id="VAR_038154"
FT VARIANT 856
FT /note="S -> C (in dbSNP:rs2061634)"
FT /id="VAR_038155"
FT VARIANT 1175
FT /note="F -> L (in dbSNP:rs3747495)"
FT /id="VAR_038156"
FT VARIANT 1573
FT /note="D -> N (in dbSNP:rs2306093)"
FT /id="VAR_038157"
FT CONFLICT 209
FT /note="L -> F (in Ref. 2; CAH18175)"
FT /evidence="ECO:0000305"
FT CONFLICT 283
FT /note="K -> M (in Ref. 2; CAH18175)"
FT /evidence="ECO:0000305"
FT CONFLICT 1112
FT /note="L -> P (in Ref. 2; CAH18175)"
FT /evidence="ECO:0000305"
FT CONFLICT 1206
FT /note="N -> I (in Ref. 2; CAH18175)"
FT /evidence="ECO:0000305"
FT CONFLICT 1651
FT /note="E -> D (in Ref. 2; CAH18175)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1701 AA; 197344 MW; 05C4909D40A2577B CRC64;
MRGGENRPPA RVQSSSEELE LRHQSLDAFP GRRLPGRGIQ PAAKMSSVGK VTQVPNGKAY
QQIFQAEVQL VHSLAATRKR AAERSVTLKS GRIPMMKKVE TPEGEVMSPR QQKWMHSLPN
DWIMENPVLH REKERAKREK ARESENTIAA REVRGLMDTI VPEKISTSTF QRQAEHKRKS
YESALASFQE EIAQVGKEME PLIVDTGGLF LKKLTESDEE MNRLFLKVEN DTNLEDYTIQ
ALLELWDKVA GRLLLRKQEI KELDEALHSL EFSRTDKLKS VLKKYAEVIE KTSYLMRPEV
YRLINEEAMV MNYALLGNRK ALAQLFVNLM ESTLQQELDS RHRWQGLVDT WKALKKEALL
QSFSEFMASE SIHTPPAVTK ELEVMLKTQN VLQQRRLKHL CTICDLLPPS YSKTQLTEWH
SSLNSLNKEL DTYHVDCMMR IRLLYEKTWQ ECLMHVQNCK KQLLDWKAFT EEEAETLVNQ
FFFQMVGALQ GKVEEDLELL DKSFETLADQ TEWQSSHLFK YFQEVVQLWE AHQSELLVQE
LELEKRMEQH RQKHSLESQV QEAHLDRLLD QLRQQSDKET LAFHLEKVKD YLKNMKSRYE
CFHTLLTKEV MEYPAIMLKE LNSYSSALSQ YFFVREIFEQ NLAGEVIFKF RQPEAHEKPS
QKRVKKLRKK QGSKEDMTRS EESISSGTST ARSVEEVEEE NDQEMESFIT EEVLGQQKKS
PLHAKMDESK EGSIQGLEEM QVEREGSLNP SLNEENVKGQ GEKKEESEEE DEKEEEEEEE
KLEEEKEEKE AQEEQESLSV GEEEDKEEGL EEIYYEDMES FTISSGNTYF VFVPLEEEHC
RKSHSTFSAM FINDTSSAKF IEQVTIPSRL ILEIKKQLRA GFFEHLEKWF DQCSLNTRVT
VATKINELDS ELELHLHLHQ PRAQQIEKDI HNVRAAELLL HQEQLDSHCA GVTETLKKKR
LMFCQFQEEQ NVRSKNFRLK IYDMEHIFLN ATRSQKLVTL SNTLHQELLS YVDVTQVSLR
SFRQYLEESL GKLRYSNIEF IKHCRLFSEG GNFSPKEINS LCSRLEKEAA RIELVESVIM
LNMEKLENEY LDQANDVINK FESKFHNLSV DLIFIEKIQR LLTNLQVKIK CQVAKSNSQT
NGLNFSLQQL QNKIKTCQES RGEKTTVTTE ELLSFVQTWK EKLSQRIQYL NCSLDRVSMT
ELVFTNTILK DQEEDSDILT SSEALEEEAK LDVVTPESFT QLSRVGKPLI EDPAVDVIRK
LLQLPNTKWP THHCDKDPSQ TGRGAWACGS RGSSEAGAGG AVCSPPVLCS CPGPSSPKGF
KRHRCQPENS GKKAVPSASA TSAGSFTPHP KPNKMERKYR VLGDKPPPAA EDFKGIILTL
LWESSENLLT VAEEFYRKEK RPVTRPDCMC DTFDQCAENI SKKILEYQSQ ANKYHNSCLI
ELRIQIRRFE ELLPQVCWLV MENFKEHHWK KFFTSVKEIR GQFEEQQKRL EKRKDKNAQK
LHLNLGHPVH FQEMESLHLS EEERQEELDS MIRMNKEKLE ECTRRNGQVF ITNLATFTEK
FLLQLDEVVT IDDVQVARME PPKQKLSMLI RRKLAGLSLK EESEKPLIER GSRKWPGIKP
TEVTIQNKIL LQPTSSISTT KTTLGHLAAV EARDAVYLKY LASFEEELKR IQDDCTSQIK
EAQRWKDSWK QSLHTIQGLY V
