CCD83_HUMAN
ID CCD83_HUMAN Reviewed; 413 AA.
AC Q8IWF9; B2RA49; Q6X7T2; Q6ZVT5; Q8N9Y1;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Coiled-coil domain-containing protein 83;
GN Name=CCDC83; ORFNames=HSD9;
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).
RC TISSUE=Testis;
RA Hu T.H., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 [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=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 -!- INTERACTION:
CC Q8IWF9; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-19036308, EBI-7225287;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IWF9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IWF9-2; Sequence=VSP_025810;
CC Name=3;
CC IsoId=Q8IWF9-3; Sequence=VSP_025808, VSP_025809, VSP_025811;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04154.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY251167; AAP20064.1; -; mRNA.
DR EMBL; AK093405; BAC04154.1; ALT_SEQ; mRNA.
DR EMBL; AK124113; BAC85776.1; -; mRNA.
DR EMBL; AK314036; BAG36746.1; -; mRNA.
DR EMBL; CH471076; EAW75114.1; -; Genomic_DNA.
DR EMBL; BC040280; AAH40280.1; -; mRNA.
DR CCDS; CCDS66196.1; -. [Q8IWF9-1]
DR CCDS; CCDS8271.1; -. [Q8IWF9-2]
DR RefSeq; NP_001273088.1; NM_001286159.1. [Q8IWF9-1]
DR RefSeq; NP_775827.2; NM_173556.4. [Q8IWF9-2]
DR RefSeq; XP_011543141.1; XM_011544839.2. [Q8IWF9-2]
DR RefSeq; XP_011543142.1; XM_011544840.2. [Q8IWF9-2]
DR RefSeq; XP_011543143.1; XM_011544841.1. [Q8IWF9-2]
DR AlphaFoldDB; Q8IWF9; -.
DR SMR; Q8IWF9; -.
DR BioGRID; 128621; 10.
DR IntAct; Q8IWF9; 8.
DR STRING; 9606.ENSP00000280245; -.
DR iPTMnet; Q8IWF9; -.
DR PhosphoSitePlus; Q8IWF9; -.
DR BioMuta; CCDC83; -.
DR DMDM; 148841313; -.
DR MassIVE; Q8IWF9; -.
DR MaxQB; Q8IWF9; -.
DR PeptideAtlas; Q8IWF9; -.
DR PRIDE; Q8IWF9; -.
DR Antibodypedia; 31411; 155 antibodies from 22 providers.
DR DNASU; 220047; -.
DR Ensembl; ENST00000280245.8; ENSP00000280245.4; ENSG00000150676.13. [Q8IWF9-2]
DR Ensembl; ENST00000342404.8; ENSP00000344512.3; ENSG00000150676.13. [Q8IWF9-1]
DR GeneID; 220047; -.
DR KEGG; hsa:220047; -.
DR MANE-Select; ENST00000342404.8; ENSP00000344512.3; NM_001286159.2; NP_001273088.1.
DR UCSC; uc001pbg.3; human. [Q8IWF9-1]
DR CTD; 220047; -.
DR DisGeNET; 220047; -.
DR GeneCards; CCDC83; -.
DR HGNC; HGNC:28535; CCDC83.
DR HPA; ENSG00000150676; Tissue enriched (testis).
DR neXtProt; NX_Q8IWF9; -.
DR OpenTargets; ENSG00000150676; -.
DR PharmGKB; PA144596450; -.
DR VEuPathDB; HostDB:ENSG00000150676; -.
DR eggNOG; ENOG502QS0V; Eukaryota.
DR GeneTree; ENSGT00390000013087; -.
DR HOGENOM; CLU_049886_0_0_1; -.
DR InParanoid; Q8IWF9; -.
DR OMA; GKKMPIH; -.
DR OrthoDB; 987774at2759; -.
DR PhylomeDB; Q8IWF9; -.
DR TreeFam; TF329512; -.
DR PathwayCommons; Q8IWF9; -.
DR SignaLink; Q8IWF9; -.
DR BioGRID-ORCS; 220047; 9 hits in 1063 CRISPR screens.
DR ChiTaRS; CCDC83; human.
DR GenomeRNAi; 220047; -.
DR Pharos; Q8IWF9; Tdark.
DR PRO; PR:Q8IWF9; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8IWF9; protein.
DR Bgee; ENSG00000150676; Expressed in sperm and 38 other tissues.
DR ExpressionAtlas; Q8IWF9; baseline and differential.
DR Genevisible; Q8IWF9; HS.
DR InterPro; IPR026702; CCDC83.
DR PANTHER; PTHR21468; PTHR21468; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..413
FT /note="Coiled-coil domain-containing protein 83"
FT /id="PRO_0000288881"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 37..184
FT /evidence="ECO:0000255"
FT COILED 216..256
FT /evidence="ECO:0000255"
FT COMPBIAS 1..20
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..43
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_025808"
FT VAR_SEQ 115..170
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_025809"
FT VAR_SEQ 265
FT /note="R -> RYPVLHSCPTSNPRHLLLLPLESCLISARRCW (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025810"
FT VAR_SEQ 292
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_025811"
FT VARIANT 49
FT /note="T -> A (in dbSNP:rs12362209)"
FT /id="VAR_032525"
FT CONFLICT 227
FT /note="I -> T (in Ref. 4; AAH40280)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 413 AA; 48851 MW; FBC395573B5C64DD CRC64;
MENSGKANKK DTHDGPPKEI KLPTSEALLD YQCQIKEDAV EQFMFQIKTL RKKNQKYHER
NSRLKEEQIW HIRHLLKELS EEKAEGLPVV TREDVEEAMK EKWKFERDQE KNLRDMRMQI
SNAEKLFLEK LSEKEYWEEY KNVGSERHAK LITSLQNDIN TVKENAEKMS EHYKITLEDT
RKKIIKETLL QLDQKKEWAT QNAVKLIDKG SYLEIWENDW LKKEVAIHRK EVEELKNAIH
ELEAENLVLI DQLSNCRLVD LKIPRRLYLT QAAGLEVPPE EMSLELPETH IEEKSELQPT
EVESRDLMSS SDESTILHLS HENSIEDLQY VKIDKEENSG TEFGDTDMKY LLYEDEKDFK
DYVNLGPLGV KLMSVESKKM PIHFQEKEIP VKLYKDVRSP ESHITYKMMK SFL
