CC181_HUMAN
ID CC181_HUMAN Reviewed; 509 AA.
AC Q5TID7; O60780; Q53FD5; Q5TID9; Q8TC48;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Coiled-coil domain-containing protein 181 {ECO:0000305};
GN Name=CCDC181 {ECO:0000312|HGNC:HGNC:28051};
GN Synonyms=C1orf114 {ECO:0000312|HGNC:HGNC:28051};
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 3).
RA Rhodes S., Huckle E.;
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS SER-172
RP AND ILE-238.
RC TISSUE=Testis;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-172.
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 -!- FUNCTION: Microtubule-binding protein that localizes to the
CC microtubular manchette of elongating spermatids.
CC {ECO:0000250|UniProtKB:Q80ZU5}.
CC -!- SUBUNIT: Homodimer. Interacts with HOOK1. Interacts with HOOK2.
CC Interacts with HOOK3. {ECO:0000250|UniProtKB:Q80ZU5}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q80ZU5}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q80ZU5}. Note=Localizes to the microtubular
CC manchette of elongating spermatids. Localizes to the sperm flagella and
CC to the basal half of motile cilia. {ECO:0000250|UniProtKB:Q80ZU5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5TID7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TID7-2; Sequence=VSP_023448;
CC Name=3;
CC IsoId=Q5TID7-3; Sequence=VSP_023449;
CC -!- SIMILARITY: Belongs to the CCDC181 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26073.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL049687; CAB41258.1; -; mRNA.
DR EMBL; AK223354; BAD97074.1; -; mRNA.
DR EMBL; AL021068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026073; AAH26073.1; ALT_FRAME; mRNA.
DR CCDS; CCDS1279.1; -. [Q5TID7-3]
DR CCDS; CCDS72979.1; -. [Q5TID7-1]
DR RefSeq; NP_001287897.1; NM_001300968.1. [Q5TID7-3]
DR RefSeq; NP_001287898.1; NM_001300969.1. [Q5TID7-1]
DR RefSeq; NP_067002.1; NM_021179.2. [Q5TID7-3]
DR RefSeq; XP_005245440.1; XM_005245383.1. [Q5TID7-1]
DR RefSeq; XP_011508129.1; XM_011509827.2. [Q5TID7-1]
DR RefSeq; XP_016857427.1; XM_017001938.1. [Q5TID7-1]
DR RefSeq; XP_016857428.1; XM_017001939.1. [Q5TID7-1]
DR RefSeq; XP_016857429.1; XM_017001940.1. [Q5TID7-3]
DR AlphaFoldDB; Q5TID7; -.
DR SMR; Q5TID7; -.
DR BioGRID; 121780; 5.
DR IntAct; Q5TID7; 4.
DR MINT; Q5TID7; -.
DR STRING; 9606.ENSP00000356780; -.
DR iPTMnet; Q5TID7; -.
DR PhosphoSitePlus; Q5TID7; -.
DR BioMuta; CCDC181; -.
DR DMDM; 74746645; -.
DR jPOST; Q5TID7; -.
DR MassIVE; Q5TID7; -.
DR PaxDb; Q5TID7; -.
DR PeptideAtlas; Q5TID7; -.
DR PRIDE; Q5TID7; -.
DR ProteomicsDB; 65189; -. [Q5TID7-1]
DR ProteomicsDB; 65190; -. [Q5TID7-2]
DR ProteomicsDB; 65191; -. [Q5TID7-3]
DR Antibodypedia; 34357; 98 antibodies from 13 providers.
DR DNASU; 57821; -.
DR Ensembl; ENST00000367805.7; ENSP00000356779.3; ENSG00000117477.13. [Q5TID7-3]
DR Ensembl; ENST00000367806.8; ENSP00000356780.3; ENSG00000117477.13. [Q5TID7-1]
DR Ensembl; ENST00000545005.5; ENSP00000442297.1; ENSG00000117477.13. [Q5TID7-3]
DR GeneID; 57821; -.
DR KEGG; hsa:57821; -.
DR MANE-Select; ENST00000367806.8; ENSP00000356780.3; NM_001300969.2; NP_001287898.1.
DR UCSC; uc001gfz.2; human. [Q5TID7-1]
DR CTD; 57821; -.
DR DisGeNET; 57821; -.
DR GeneCards; CCDC181; -.
DR HGNC; HGNC:28051; CCDC181.
DR HPA; ENSG00000117477; Tissue enhanced (retina, testis).
DR neXtProt; NX_Q5TID7; -.
DR OpenTargets; ENSG00000117477; -.
DR PharmGKB; PA142672498; -.
DR VEuPathDB; HostDB:ENSG00000117477; -.
DR eggNOG; ENOG502QV5R; Eukaryota.
DR GeneTree; ENSGT00390000018244; -.
DR HOGENOM; CLU_040811_0_0_1; -.
DR InParanoid; Q5TID7; -.
DR OMA; FKAWLMR; -.
DR OrthoDB; 1520743at2759; -.
DR PhylomeDB; Q5TID7; -.
DR TreeFam; TF331115; -.
DR PathwayCommons; Q5TID7; -.
DR SignaLink; Q5TID7; -.
DR BioGRID-ORCS; 57821; 16 hits in 1055 CRISPR screens.
DR ChiTaRS; CCDC181; human.
DR GenomeRNAi; 57821; -.
DR Pharos; Q5TID7; Tdark.
DR PRO; PR:Q5TID7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TID7; protein.
DR Bgee; ENSG00000117477; Expressed in sperm and 150 other tissues.
DR ExpressionAtlas; Q5TID7; baseline and differential.
DR Genevisible; Q5TID7; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0002177; C:manchette; ISS:UniProtKB.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0008017; F:microtubule binding; ISS:UniProtKB.
DR InterPro; IPR026687; CCDC181.
DR InterPro; IPR025259; CCDC34/181.
DR PANTHER; PTHR14320; PTHR14320; 1.
DR Pfam; PF13904; DUF4207; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Flagellum; Microtubule; Reference proteome.
FT CHAIN 1..509
FT /note="Coiled-coil domain-containing protein 181"
FT /id="PRO_0000279465"
FT REGION 46..120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 241..367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 335..375
FT /evidence="ECO:0000255"
FT COMPBIAS 46..77
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 103..120
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 241..269
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..339
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 341..367
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 406..509
FT /note="QENRDPQQAFRLWLKKKHEEQMKERQTEELRKQEECLFFLKGTEGRERAFKQ
FT WLRRKRMEKMAEQQAVRERTRQLRLEAKRSKQLQHHLYMSEAKPFRFTDHYN -> VSK
FT TSLKNKFIQI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023448"
FT VAR_SEQ 406
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_023449"
FT VARIANT 172
FT /note="F -> S (in dbSNP:rs3820059)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_030907"
FT VARIANT 238
FT /note="F -> I (in dbSNP:rs35107735)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_056764"
FT VARIANT 323
FT /note="S -> C (in dbSNP:rs35287513)"
FT /id="VAR_056765"
FT CONFLICT 310
FT /note="R -> Q (in Ref. 2; BAD97074)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 509 AA; 60103 MW; F3FE11900539F24E CRC64;
MNENKDTDSK KSEEYEDDFE KDLEWLINEN EKSDASIIEM ACEKEENINQ DLKENETVME
HTKRHSDPDK SLQDEVSPRR NDIISVPGIQ PLDPISDSDS ENSFQESKLE SQKDLEEEED
EEVRRYIMEK IVQANKLLQN QEPVNDKRER KLKFKDQLVD LEVPPLEDTT TFKNYFENER
NMFGKLSQLC ISNDFGQEDV LLSLTNGSCE ENKDRTILVE RDGKFELLNL QDIASQGFLP
PINNANSTEN DPQQLLPRSS NSSVSGTKKE DSTAKIHAVT HSSTGEPLAY IAQPPLNRKT
CPSSAVNSDR SKGNGKSNHR TQSAHISPVT STYCLSPRQK ELQKQLEEKR EKLKREEERR
KIEEEKEKKR ENDIVFKAWL QKKREQVLEM RRIQRAKEIE DMNSRQENRD PQQAFRLWLK
KKHEEQMKER QTEELRKQEE CLFFLKGTEG RERAFKQWLR RKRMEKMAEQ QAVRERTRQL
RLEAKRSKQL QHHLYMSEAK PFRFTDHYN
