CCD32_MOUSE
ID CCD32_MOUSE Reviewed; 179 AA.
AC Q8BS39; Q5U667; Q7TPZ0;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 91.
DE RecName: Full=Coiled-coil domain-containing protein 32;
GN Name=Ccdc32; Synonyms=Gm631;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Aorta, and Vein;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Mammary tumor;
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 [4]
RP FUNCTION.
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 (PubMed:32307552). Required for
CC proper cephalic and left/right axis development (By similarity).
CC {ECO:0000250|UniProtKB:X1WGV5, ECO:0000269|PubMed:32307552}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8BS39-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8BS39-2; Sequence=VSP_027488;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH23926.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK040670; BAC30662.1; -; mRNA.
DR EMBL; AL772264; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL845164; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC023926; AAH23926.2; ALT_INIT; mRNA.
DR CCDS; CCDS50671.1; -. [Q8BS39-1]
DR AlphaFoldDB; Q8BS39; -.
DR STRING; 10090.ENSMUSP00000038589; -.
DR PhosphoSitePlus; Q8BS39; -.
DR MaxQB; Q8BS39; -.
DR PaxDb; Q8BS39; -.
DR PRIDE; Q8BS39; -.
DR ProteomicsDB; 281417; -. [Q8BS39-1]
DR ProteomicsDB; 281418; -. [Q8BS39-2]
DR Antibodypedia; 52306; 37 antibodies from 10 providers.
DR Ensembl; ENSMUST00000110833; ENSMUSP00000106457; ENSMUSG00000039983. [Q8BS39-2]
DR Ensembl; ENSMUST00000110834; ENSMUSP00000106458; ENSMUSG00000039983. [Q8BS39-2]
DR UCSC; uc008lsy.1; mouse. [Q8BS39-1]
DR MGI; MGI:2685477; Ccdc32.
DR VEuPathDB; HostDB:ENSMUSG00000039983; -.
DR eggNOG; KOG4106; Eukaryota.
DR GeneTree; ENSGT00390000014780; -.
DR InParanoid; Q8BS39; -.
DR PhylomeDB; Q8BS39; -.
DR ChiTaRS; Ccdc32; mouse.
DR PRO; PR:Q8BS39; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q8BS39; protein.
DR Bgee; ENSMUSG00000039983; Expressed in CA1 field of hippocampus and 216 other tissues.
DR ExpressionAtlas; Q8BS39; baseline and differential.
DR GO; GO:0044782; P:cilium organization; IMP:UniProtKB.
DR GO; GO:0060322; P:head development; ISO:MGI.
DR InterPro; IPR028039; CCDC32.
DR PANTHER; PTHR31800; PTHR31800; 1.
DR Pfam; PF14989; CCDC32; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cilium biogenesis/degradation; Coiled coil;
KW Reference proteome.
FT CHAIN 1..179
FT /note="Coiled-coil domain-containing protein 32"
FT /id="PRO_0000298938"
FT REGION 36..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 158..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 75..98
FT /evidence="ECO:0000255"
FT VAR_SEQ 135..179
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_027488"
FT CONFLICT 134
FT /note="R -> S (in Ref. 3; AAH23926)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 179 AA; 19928 MW; 230BDF6B7772B151 CRC64;
MKMFESLDSS ATKSGRDLWA EICSCLPSPA QEDVSDNAFS DSFMDSHPAG ESHTAAADSA
VQPAGKPWAP LHDSEVYLAS LEKKLRRIKG LNEEVTSKDM LRTLAQAKKE CWDRFLQEKL
ASEFFVDGLD SDERTLEHFK RWLQPDKVAI STEEVQFLIP PESQAEKPEA GDKPAAAEQ
