CCD42_HUMAN
ID CCD42_HUMAN Reviewed; 316 AA.
AC Q96M95; Q8N6Q0;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Coiled-coil domain-containing protein 42 {ECO:0000305};
GN Name=CCDC42 {ECO:0000312|HGNC:HGNC:26528};
GN Synonyms=CCDC42A {ECO:0000312|HGNC:HGNC:26528};
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 1).
RC TISSUE=Testis;
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 2).
RC TISSUE=Brain;
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: Required for sperm development.
CC {ECO:0000250|UniProtKB:Q5SV66}.
CC -!- INTERACTION:
CC Q96M95; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-747041, EBI-10172526;
CC Q96M95; Q9UBB9: TFIP11; NbExp=5; IntAct=EBI-747041, EBI-1105213;
CC Q96M95-2; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-11750401, EBI-10172526;
CC Q96M95-2; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-11750401, EBI-739895;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96M95-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96M95-2; Sequence=VSP_055651;
CC -!- SIMILARITY: Belongs to the CFAP73 family. {ECO:0000305}.
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DR EMBL; AK057296; BAB71414.1; -; mRNA.
DR EMBL; BC029224; AAH29224.1; -; mRNA.
DR CCDS; CCDS11145.1; -. [Q96M95-1]
DR CCDS; CCDS54088.1; -. [Q96M95-2]
DR RefSeq; NP_001151733.1; NM_001158261.1. [Q96M95-2]
DR RefSeq; NP_653282.2; NM_144681.2. [Q96M95-1]
DR AlphaFoldDB; Q96M95; -.
DR SMR; Q96M95; -.
DR BioGRID; 127015; 9.
DR IntAct; Q96M95; 6.
DR STRING; 9606.ENSP00000293845; -.
DR iPTMnet; Q96M95; -.
DR PhosphoSitePlus; Q96M95; -.
DR BioMuta; CCDC42; -.
DR DMDM; 97045403; -.
DR EPD; Q96M95; -.
DR MassIVE; Q96M95; -.
DR PaxDb; Q96M95; -.
DR PeptideAtlas; Q96M95; -.
DR PRIDE; Q96M95; -.
DR Antibodypedia; 12628; 140 antibodies from 18 providers.
DR DNASU; 146849; -.
DR Ensembl; ENST00000293845.8; ENSP00000293845.3; ENSG00000161973.11. [Q96M95-1]
DR Ensembl; ENST00000539522.2; ENSP00000444359.2; ENSG00000161973.11. [Q96M95-2]
DR GeneID; 146849; -.
DR KEGG; hsa:146849; -.
DR MANE-Select; ENST00000293845.8; ENSP00000293845.3; NM_144681.3; NP_653282.2.
DR UCSC; uc002gln.4; human. [Q96M95-1]
DR CTD; 146849; -.
DR DisGeNET; 146849; -.
DR GeneCards; CCDC42; -.
DR HGNC; HGNC:26528; CCDC42.
DR HPA; ENSG00000161973; Tissue enriched (testis).
DR neXtProt; NX_Q96M95; -.
DR OpenTargets; ENSG00000161973; -.
DR PharmGKB; PA142672159; -.
DR VEuPathDB; HostDB:ENSG00000161973; -.
DR eggNOG; ENOG502QRZS; Eukaryota.
DR GeneTree; ENSGT00940000153110; -.
DR HOGENOM; CLU_061472_1_0_1; -.
DR InParanoid; Q96M95; -.
DR OMA; QYYKFIQ; -.
DR OrthoDB; 1528754at2759; -.
DR PhylomeDB; Q96M95; -.
DR TreeFam; TF327270; -.
DR PathwayCommons; Q96M95; -.
DR SignaLink; Q96M95; -.
DR BioGRID-ORCS; 146849; 7 hits in 1068 CRISPR screens.
DR ChiTaRS; CCDC42; human.
DR GenomeRNAi; 146849; -.
DR Pharos; Q96M95; Tdark.
DR PRO; PR:Q96M95; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96M95; protein.
DR Bgee; ENSG00000161973; Expressed in left testis and 60 other tissues.
DR ExpressionAtlas; Q96M95; baseline and differential.
DR Genevisible; Q96M95; HS.
DR GO; GO:0007286; P:spermatid development; ISS:UniProtKB.
DR InterPro; IPR025252; DUF4200.
DR Pfam; PF13863; DUF4200; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..316
FT /note="Coiled-coil domain-containing protein 42"
FT /id="PRO_0000234498"
FT COILED 39..146
FT /evidence="ECO:0000255"
FT COILED 178..232
FT /evidence="ECO:0000255"
FT VAR_SEQ 165..238
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055651"
FT VARIANT 51
FT /note="T -> P (in dbSNP:rs12952995)"
FT /id="VAR_057786"
FT VARIANT 75
FT /note="R -> C (in dbSNP:rs9893451)"
FT /id="VAR_057787"
FT VARIANT 144
FT /note="A -> T (in dbSNP:rs2288156)"
FT /id="VAR_026282"
FT CONFLICT 40
FT /note="P -> L (in Ref. 1; BAB71414)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 316 AA; 38019 MW; 6644F815765ACB89 CRC64;
MSLGIMEEED LAEYFRLQYG ERLLQMLQKL PNVEGASESP SIWLLEKKKE TEIMHQTMVQ
KKKMFQRRME TLNLRWEELG VKEAQLKAHI QKSEQFIQEN DQKRIRAMKK ANKERELKCQ
HMQELTKRKQ EMVALRLEHQ RLSAKLKDYY IFNKYLEKVV ENSEFEEIHE VIARYKTLVS
MRHDLMQSAQ EGQEKIERAK ARLARYMEEK DDEILQQNNE LARLQMRFDR ARSNVIFWES
RWAHIQNTAA KKTLLLGTIK MATLNLFQIV SKHLKEVTEV ALEDTHKQLD MIQQFIQDRS
DIWAEVKKKE QQRVRI
