CCD32_HUMAN
ID CCD32_HUMAN Reviewed; 185 AA.
AC Q9BV29; A8KAL4; Q86TC4; Q8N788; Q8NAR7;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Coiled-coil domain-containing protein 32;
GN Name=CCDC32 {ECO:0000312|HGNC:HGNC:28295};
GN Synonyms=C15orf57 {ECO:0000312|HGNC:HGNC:28295};
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] (ISOFORMS 2 AND 3), AND VARIANT
RP ILE-2.
RC TISSUE=Brain, and Uterus;
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 MRNA] (ISOFORM 1), AND VARIANT ILE-2.
RC TISSUE=Skeletal muscle;
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].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [6]
RP FUNCTION, AND INVOLVEMENT IN CFNDS.
RX PubMed=32307552; DOI=10.1093/hmg/ddaa073;
RA Harel T., Griffin J.N., Arbogast T., Monroe T.O., Palombo F.,
RA Martinelli M., Seri M., Pippucci T., Elpeleg O., Katsanis N.;
RT "Loss of function mutations in CCDC32 cause a congenital syndrome
RT characterized by craniofacial, cardiac and neurodevelopmental anomalies.";
RL Hum. Mol. Genet. 29:1489-1497(2020).
CC -!- FUNCTION: Has a role in ciliogenesis (By similarity). Required for
CC proper cephalic and left/right axis development (PubMed:32307552).
CC {ECO:0000250|UniProtKB:X1WGV5, ECO:0000269|PubMed:32307552}.
CC -!- INTERACTION:
CC Q9BV29; P23560-2: BDNF; NbExp=3; IntAct=EBI-2874058, EBI-12275524;
CC Q9BV29; Q969Y2: GTPBP3; NbExp=3; IntAct=EBI-2874058, EBI-740290;
CC Q9BV29; P07900: HSP90AA1; NbExp=3; IntAct=EBI-2874058, EBI-296047;
CC Q9BV29; Q9NUX5: POT1; NbExp=2; IntAct=EBI-2874058, EBI-752420;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BV29-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BV29-2; Sequence=VSP_027485;
CC Name=3;
CC IsoId=Q9BV29-3; Sequence=VSP_027486, VSP_027487;
CC -!- DISEASE: Cardiofacioneurodevelopmental syndrome (CFNDS) [MIM:619123]:
CC An autosomal recessive disorder characterized by global developmental
CC delay, feeding difficulties, microcephaly and dysmorphic features.
CC Additional features include cleft lip, cleft palate, variable cardiac
CC defects, and abdominal situs inversus with asplenia. Brain imaging
CC reveals cerebellar hypoplasia. {ECO:0000269|PubMed:32307552}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD89911.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK092214; BAC03831.1; -; mRNA.
DR EMBL; AK098781; BAC05411.1; -; mRNA.
DR EMBL; AK293079; BAF85768.1; -; mRNA.
DR EMBL; AL832032; CAD89911.1; ALT_INIT; mRNA.
DR EMBL; CH471125; EAW92421.1; -; Genomic_DNA.
DR EMBL; BC001673; AAH01673.2; -; mRNA.
DR CCDS; CCDS10060.1; -. [Q9BV29-1]
DR CCDS; CCDS42022.1; -. [Q9BV29-1]
DR CCDS; CCDS73706.1; -. [Q9BV29-3]
DR RefSeq; NP_001074260.1; NM_001080791.2. [Q9BV29-1]
DR RefSeq; NP_001074261.1; NM_001080792.2. [Q9BV29-1]
DR RefSeq; NP_001276061.1; NM_001289132.1. [Q9BV29-3]
DR RefSeq; NP_443081.1; NM_052849.3. [Q9BV29-1]
DR AlphaFoldDB; Q9BV29; -.
DR BioGRID; 124713; 19.
DR IntAct; Q9BV29; 10.
DR MINT; Q9BV29; -.
DR STRING; 9606.ENSP00000452773; -.
DR iPTMnet; Q9BV29; -.
DR PhosphoSitePlus; Q9BV29; -.
DR BioMuta; CCDC32; -.
DR DMDM; 74733283; -.
DR EPD; Q9BV29; -.
DR jPOST; Q9BV29; -.
DR MassIVE; Q9BV29; -.
DR MaxQB; Q9BV29; -.
DR PaxDb; Q9BV29; -.
DR PeptideAtlas; Q9BV29; -.
DR PRIDE; Q9BV29; -.
DR ProteomicsDB; 79155; -. [Q9BV29-1]
DR ProteomicsDB; 79156; -. [Q9BV29-2]
DR ProteomicsDB; 79157; -. [Q9BV29-3]
DR Antibodypedia; 52306; 37 antibodies from 10 providers.
DR DNASU; 90416; -.
DR Ensembl; ENST00000358005.7; ENSP00000350695.3; ENSG00000128891.16. [Q9BV29-1]
DR Ensembl; ENST00000416810.7; ENSP00000397515.2; ENSG00000128891.16. [Q9BV29-1]
DR Ensembl; ENST00000558750.5; ENSP00000452773.1; ENSG00000128891.16. [Q9BV29-2]
DR Ensembl; ENST00000558871.1; ENSP00000452657.1; ENSG00000128891.16. [Q9BV29-3]
DR Ensembl; ENST00000559153.5; ENSP00000453607.1; ENSG00000128891.16. [Q9BV29-1]
DR Ensembl; ENST00000559291.5; ENSP00000453226.1; ENSG00000128891.16. [Q9BV29-1]
DR Ensembl; ENST00000561011.5; ENSP00000454049.1; ENSG00000128891.16. [Q9BV29-3]
DR GeneID; 90416; -.
DR KEGG; hsa:90416; -.
DR MANE-Select; ENST00000416810.7; ENSP00000397515.2; NM_001080792.4; NP_001074261.1.
DR UCSC; uc001zma.3; human. [Q9BV29-1]
DR CTD; 90416; -.
DR GeneCards; CCDC32; -.
DR HGNC; HGNC:28295; CCDC32.
DR HPA; ENSG00000128891; Low tissue specificity.
DR MalaCards; CCDC32; -.
DR MIM; 618941; gene.
DR MIM; 619123; phenotype.
DR neXtProt; NX_Q9BV29; -.
DR OpenTargets; ENSG00000128891; -.
DR Orphanet; 528084; Non-specific syndromic intellectual disability.
DR PharmGKB; PA162378234; -.
DR VEuPathDB; HostDB:ENSG00000128891; -.
DR eggNOG; KOG4106; Eukaryota.
DR GeneTree; ENSGT00390000014780; -.
DR InParanoid; Q9BV29; -.
DR OMA; ALKPWAP; -.
DR OrthoDB; 1421909at2759; -.
DR PhylomeDB; Q9BV29; -.
DR TreeFam; TF332102; -.
DR PathwayCommons; Q9BV29; -.
DR SignaLink; Q9BV29; -.
DR BioGRID-ORCS; 90416; 30 hits in 1063 CRISPR screens.
DR ChiTaRS; C15orf57; human.
DR GenomeRNAi; 90416; -.
DR Pharos; Q9BV29; Tdark.
DR PRO; PR:Q9BV29; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9BV29; protein.
DR Bgee; ENSG00000128891; Expressed in islet of Langerhans and 160 other tissues.
DR ExpressionAtlas; Q9BV29; baseline and differential.
DR Genevisible; Q9BV29; HS.
DR GO; GO:0044782; P:cilium organization; ISS:UniProtKB.
DR GO; GO:0060322; P:head development; IMP:UniProtKB.
DR InterPro; IPR028039; CCDC32.
DR PANTHER; PTHR31800; PTHR31800; 1.
DR Pfam; PF14989; CCDC32; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Ciliopathy; Cilium biogenesis/degradation;
KW Coiled coil; Reference proteome.
FT CHAIN 1..185
FT /note="Coiled-coil domain-containing protein 32"
FT /id="PRO_0000298937"
FT REGION 159..185
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 78..98
FT /evidence="ECO:0000255"
FT COMPBIAS 166..185
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MRGSGLRFQM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027485"
FT VAR_SEQ 134
FT /note="S -> R (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027486"
FT VAR_SEQ 135..185
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027487"
FT VARIANT 2
FT /note="K -> I (in dbSNP:rs10152546)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_034743"
SQ SEQUENCE 185 AA; 20656 MW; 3965B8A4FBC06651 CRC64;
MKMFESADST ATRSGQDLWA EICSCLPNPE QEDGANNAFS DSFVDSCPEG EGQREVADFA
VQPAVKPWAP LQDSEVYLAS LEKKLRRIKG LNQEVTSKDM LRTLAQAKKE CWDRFLQEKL
ASEFFVDGLD SDESTLEHFK RWLQPDKVAV STEEVQYLIP PESQVEKPVA EDEPAAGDKP
AAAEQ
