CCD13_HUMAN
ID CCD13_HUMAN Reviewed; 715 AA.
AC Q8IYE1;
DT 15-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Coiled-coil domain-containing protein 13 {ECO:0000305};
GN Name=CCDC13 {ECO:0000312|HGNC:HGNC:26358};
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 GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-375.
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).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH PCM1; CEP290 AND PCNT.
RX PubMed=24816561; DOI=10.1242/jcs.147785;
RA Staples C.J., Myers K.N., Beveridge R.D., Patil A.A., Howard A.E.,
RA Barone G., Lee A.J., Swanton C., Howell M., Maslen S., Skehel J.M.,
RA Boulton S.J., Collis S.J.;
RT "Ccdc13 is a novel human centriolar satellite protein required for
RT ciliogenesis and genome stability.";
RL J. Cell Sci. 127:2910-2919(2014).
CC -!- FUNCTION: Required for primary cilia formation and promotes the
CC localization of the ciliopathy protein BBS4 to both centriolar
CC satellites and cilia. {ECO:0000269|PubMed:24816561}.
CC -!- SUBUNIT: Interacts with PCM1, CEP290 and PCNT.
CC {ECO:0000269|PubMed:24816561}.
CC -!- INTERACTION:
CC Q8IYE1; Q8WXK1: ASB15; NbExp=3; IntAct=EBI-10961312, EBI-12809012;
CC Q8IYE1; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-10961312, EBI-11530605;
CC Q8IYE1; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-10961312, EBI-744556;
CC Q8IYE1; Q8TD31-3: CCHCR1; NbExp=6; IntAct=EBI-10961312, EBI-10175300;
CC Q8IYE1; P30281: CCND3; NbExp=3; IntAct=EBI-10961312, EBI-375013;
CC Q8IYE1; Q01850: CDR2; NbExp=3; IntAct=EBI-10961312, EBI-1181367;
CC Q8IYE1; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-10961312, EBI-11988027;
CC Q8IYE1; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-10961312, EBI-2349927;
CC Q8IYE1; Q08426: EHHADH; NbExp=3; IntAct=EBI-10961312, EBI-2339219;
CC Q8IYE1; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-10961312, EBI-744099;
CC Q8IYE1; Q3B820: FAM161A; NbExp=3; IntAct=EBI-10961312, EBI-719941;
CC Q8IYE1; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-10961312, EBI-7225287;
CC Q8IYE1; A6H8Z2: FAM221B; NbExp=3; IntAct=EBI-10961312, EBI-12006844;
CC Q8IYE1; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-10961312, EBI-6658203;
CC Q8IYE1; A0A0C3SFZ9: FCHO1; NbExp=3; IntAct=EBI-10961312, EBI-11977403;
CC Q8IYE1; Q96IK5: GMCL1; NbExp=5; IntAct=EBI-10961312, EBI-2548508;
CC Q8IYE1; Q08379: GOLGA2; NbExp=3; IntAct=EBI-10961312, EBI-618309;
CC Q8IYE1; P54257: HAP1; NbExp=3; IntAct=EBI-10961312, EBI-712814;
CC Q8IYE1; O75031: HSF2BP; NbExp=3; IntAct=EBI-10961312, EBI-7116203;
CC Q8IYE1; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-10961312, EBI-3437878;
CC Q8IYE1; O76011: KRT34; NbExp=3; IntAct=EBI-10961312, EBI-1047093;
CC Q8IYE1; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-10961312, EBI-1216080;
CC Q8IYE1; Q96EZ8: MCRS1; NbExp=6; IntAct=EBI-10961312, EBI-348259;
CC Q8IYE1; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10961312, EBI-16439278;
CC Q8IYE1; P13349: MYF5; NbExp=3; IntAct=EBI-10961312, EBI-17491620;
CC Q8IYE1; P07196: NEFL; NbExp=3; IntAct=EBI-10961312, EBI-475646;
CC Q8IYE1; Q96CV9: OPTN; NbExp=3; IntAct=EBI-10961312, EBI-748974;
CC Q8IYE1; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-10961312, EBI-14066006;
CC Q8IYE1; Q15311: RALBP1; NbExp=3; IntAct=EBI-10961312, EBI-749285;
CC Q8IYE1; P08865: RPSA; NbExp=3; IntAct=EBI-10961312, EBI-354112;
CC Q8IYE1; Q9BT92: TCHP; NbExp=4; IntAct=EBI-10961312, EBI-740781;
CC Q8IYE1; P56279: TCL1A; NbExp=3; IntAct=EBI-10961312, EBI-749995;
CC Q8IYE1; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-10961312, EBI-1105213;
CC Q8IYE1; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-10961312, EBI-11952721;
CC Q8IYE1; Q13114: TRAF3; NbExp=3; IntAct=EBI-10961312, EBI-357631;
CC Q8IYE1; P36406: TRIM23; NbExp=3; IntAct=EBI-10961312, EBI-740098;
CC Q8IYE1; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-10961312, EBI-10241197;
CC Q8IYE1; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-10961312, EBI-6116822;
CC Q8IYE1; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-10961312, EBI-11975223;
CC Q8IYE1; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-10961312, EBI-2799833;
CC Q8IYE1; O96006: ZBED1; NbExp=3; IntAct=EBI-10961312, EBI-740037;
CC Q8IYE1; O15209: ZBTB22; NbExp=3; IntAct=EBI-10961312, EBI-723574;
CC Q8IYE1; O43298: ZBTB43; NbExp=3; IntAct=EBI-10961312, EBI-740718;
CC Q8IYE1; Q8N5A5-2: ZGPAT; NbExp=3; IntAct=EBI-10961312, EBI-10183064;
CC Q8IYE1; Q9BS34: ZNF670; NbExp=3; IntAct=EBI-10961312, EBI-745276;
CC Q8IYE1; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-10961312, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome, centriolar satellite {ECO:0000269|PubMed:24816561}.
CC Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:24816561}.
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DR EMBL; AC006059; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036050; AAH36050.1; -; mRNA.
DR CCDS; CCDS2705.1; -.
DR RefSeq; NP_653320.3; NM_144719.3.
DR AlphaFoldDB; Q8IYE1; -.
DR SMR; Q8IYE1; -.
DR BioGRID; 127436; 51.
DR IntAct; Q8IYE1; 63.
DR STRING; 9606.ENSP00000309836; -.
DR iPTMnet; Q8IYE1; -.
DR PhosphoSitePlus; Q8IYE1; -.
DR BioMuta; CCDC13; -.
DR DMDM; 229462823; -.
DR EPD; Q8IYE1; -.
DR jPOST; Q8IYE1; -.
DR MassIVE; Q8IYE1; -.
DR PaxDb; Q8IYE1; -.
DR PeptideAtlas; Q8IYE1; -.
DR PRIDE; Q8IYE1; -.
DR ProteomicsDB; 71164; -.
DR Antibodypedia; 48468; 73 antibodies from 16 providers.
DR DNASU; 152206; -.
DR Ensembl; ENST00000310232.11; ENSP00000309836.6; ENSG00000244607.7.
DR GeneID; 152206; -.
DR KEGG; hsa:152206; -.
DR MANE-Select; ENST00000310232.11; ENSP00000309836.6; NM_144719.4; NP_653320.3.
DR UCSC; uc003cly.5; human.
DR CTD; 152206; -.
DR DisGeNET; 152206; -.
DR GeneCards; CCDC13; -.
DR HGNC; HGNC:26358; CCDC13.
DR HPA; ENSG00000244607; Group enriched (brain, choroid plexus, fallopian tube, retina, testis).
DR neXtProt; NX_Q8IYE1; -.
DR OpenTargets; ENSG00000244607; -.
DR PharmGKB; PA134974073; -.
DR VEuPathDB; HostDB:ENSG00000244607; -.
DR eggNOG; ENOG502QSV1; Eukaryota.
DR GeneTree; ENSGT00390000000596; -.
DR HOGENOM; CLU_026686_0_0_1; -.
DR InParanoid; Q8IYE1; -.
DR OMA; NINTMND; -.
DR OrthoDB; 1533296at2759; -.
DR PhylomeDB; Q8IYE1; -.
DR TreeFam; TF328506; -.
DR PathwayCommons; Q8IYE1; -.
DR SignaLink; Q8IYE1; -.
DR BioGRID-ORCS; 152206; 10 hits in 1066 CRISPR screens.
DR ChiTaRS; CCDC13; human.
DR GenomeRNAi; 152206; -.
DR Pharos; Q8IYE1; Tbio.
DR PRO; PR:Q8IYE1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IYE1; protein.
DR Bgee; ENSG00000244607; Expressed in right uterine tube and 104 other tissues.
DR Genevisible; Q8IYE1; HS.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0034451; C:centriolar satellite; IDA:SYSCILIA_CCNET.
DR GO; GO:0005813; C:centrosome; IDA:SYSCILIA_CCNET.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IMP:SYSCILIA_CCNET.
DR GO; GO:0031122; P:cytoplasmic microtubule organization; IMP:SYSCILIA_CCNET.
DR GO; GO:1905515; P:non-motile cilium assembly; IDA:SYSCILIA_CCNET.
DR InterPro; IPR038929; CCDC13.
DR PANTHER; PTHR31935; PTHR31935; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium biogenesis/degradation; Coiled coil; Cytoplasm;
KW Cytoskeleton; Phosphoprotein; Reference proteome.
FT CHAIN 1..715
FT /note="Coiled-coil domain-containing protein 13"
FT /id="PRO_0000089409"
FT REGION 20..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 482..541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 607..645
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 16..105
FT /evidence="ECO:0000255"
FT COILED 134..458
FT /evidence="ECO:0000255"
FT COILED 554..608
FT /evidence="ECO:0000255"
FT COILED 653..683
FT /evidence="ECO:0000255"
FT COMPBIAS 20..50
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 501..541
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 617..634
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 258
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3YV10"
FT MOD_RES 469
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3YV10"
FT MOD_RES 536
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3YV10"
FT VARIANT 25
FT /note="R -> W (in dbSNP:rs17238798)"
FT /id="VAR_055093"
FT VARIANT 375
FT /note="E -> V (in dbSNP:rs17853515)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055094"
FT VARIANT 547
FT /note="S -> T (in dbSNP:rs12495805)"
FT /id="VAR_033664"
SQ SEQUENCE 715 AA; 80884 MW; 066B05A9D5EDECF3 CRC64;
MAADESSQNT LRLQFKAMQE MQHKRLQKQM EKKREKELSL KSRADDQEEP LEVSDGLSLL
HAGEPNSKNS FEKRVLEDEI EHLRNELRET VDENGRLYKL LKERDFEIKH LKKKIEEDRF
AFTGTAGVAG DVVATKIVEL SKKNRLLMAE SEGAKTRVKQ LTNRIQELER ELQTALTRLS
AKGATDAGAK PPRAQMGDRA LLETPEVKAL QDRLVATNLK MSDLRNQIQS VKQELRMAQK
VLAREVGEDI NVQQLLSSPG TWRGRAQQIL VLQSKVQELE KQLGQARSQS AGTASDELSV
YPDPRKLSAQ EKNLLRIRSL EREKQEGLEK LASERDVLQR ELEELKKKFE GMRSRNKLLS
SEMKTLKSQM GTLVEKGRHD DELIDALMDQ LKQLQEILGS LSLQEEKTRV SQHHLDQQLN
SEAQRSNSLV AQLQAMVAER EAKVRQLEME IGQLNVHYLR NKGVGEGSSG REVSPAYTQF
LEDPGLTKSP ASAGDHVGRL GSSRSVTSLG HTLVESALTR PSLPSPHRTS PRFSDSPEQK
GWQAQVSEIK ALWQAAEVER DRLTEFVTVL QKRVEESNSK LLESERKLQE ERHRTVVLEQ
HLEKIRLEPG KASASQRAAP RTKTGLPTSN NRHNPTGSEK KDPSFAQLSD VPVESQMEEL
TTRLAIQVEE NEMLKAALGS ALRGKEEDFR MYHEILGQVK SVFLQALRQQ KTGKQ
