COMD8_HUMAN
ID COMD8_HUMAN Reviewed; 183 AA.
AC Q9NX08; Q8WUR4; Q9HC15;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=COMM domain-containing protein 8;
GN Name=COMMD8; ORFNames=MDS022;
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 [MRNA], FUNCTION, INTERACTION WITH COMMD1; RELA; RELB
RP AND NFKB1, AND TISSUE SPECIFICITY.
RX PubMed=15799966; DOI=10.1074/jbc.m501928200;
RA Burstein E., Hoberg J.E., Wilkinson A.S., Rumble J.M., Csomos R.A.,
RA Komarck C.M., Maine G.N., Wilkinson J.C., Mayo M.W., Duckett C.S.;
RT "COMMD proteins, a novel family of structural and functional homologs of
RT MURR1.";
RL J. Biol. Chem. 280:22222-22232(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hematopoietic stem cell;
RA Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z.;
RT "Novel genes expressed in hematopoietic stem/progenitor cells from
RT myelodysplastic syndrome patients.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney, and Placenta;
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=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP FUNCTION, INTERACTION WITH CUL1; CUL2; CUL3; CUL4A; CUL4B AND CUL5, AND
RP SUBCELLULAR LOCATION.
RX PubMed=21778237; DOI=10.1074/jbc.m111.278408;
RA Mao X., Gluck N., Chen B., Starokadomskyy P., Li H., Maine G.N.,
RA Burstein E.;
RT "COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates
RT Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-
RT dissociated protein 1) binding.";
RL J. Biol. Chem. 286:32355-32365(2011).
RN [7]
RP INTERACTION WITH SCNN1B.
RX PubMed=23637203; DOI=10.1152/ajprenal.00158.2013;
RA Liu Y.F., Swart M., Ke Y., Ly K., McDonald F.J.;
RT "Functional interaction of COMMD3 and COMMD9 with the epithelial sodium
RT channel.";
RL Am. J. Physiol. 305:F80-F89(2013).
RN [8]
RP INTERACTION WITH CCDC22.
RX PubMed=23563313; DOI=10.1172/jci66466;
RA Starokadomskyy P., Gluck N., Li H., Chen B., Wallis M., Maine G.N., Mao X.,
RA Zaidi I.W., Hein M.Y., McDonald F.J., Lenzner S., Zecha A., Ropers H.H.,
RA Kuss A.W., McGaughran J., Gecz J., Burstein E.;
RT "CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB
RT signaling.";
RL J. Clin. Invest. 123:2244-2256(2013).
RN [9]
RP INTERACTION WITH CCDC93.
RX PubMed=25355947; DOI=10.1091/mbc.e14-06-1073;
RA Phillips-Krawczak C.A., Singla A., Starokadomskyy P., Deng Z.,
RA Osborne D.G., Li H., Dick C.J., Gomez T.S., Koenecke M., Zhang J.S.,
RA Dai H., Sifuentes-Dominguez L.F., Geng L.N., Kaufmann S.H., Hein M.Y.,
RA Wallis M., McGaughran J., Gecz J., van de Sluis B., Billadeau D.D.,
RA Burstein E.;
RT "COMMD1 is linked to the WASH complex and regulates endosomal trafficking
RT of the copper transporter ATP7A.";
RL Mol. Biol. Cell 26:91-103(2015).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [11]
RP INTERACTION WITH CCDC22.
RX PubMed=28892079; DOI=10.1038/ncb3610;
RA McNally K.E., Faulkner R., Steinberg F., Gallon M., Ghai R., Pim D.,
RA Langton P., Pearson N., Danson C.M., Naegele H., Morris L.L., Singla A.,
RA Overlee B.L., Heesom K.J., Sessions R., Banks L., Collins B.M., Berger I.,
RA Billadeau D.D., Burstein E., Cullen P.J.;
RT "Retriever is a multiprotein complex for retromer-independent endosomal
RT cargo recycling.";
RL Nat. Cell Biol. 19:1214-1225(2017).
CC -!- FUNCTION: May modulate activity of cullin-RING E3 ubiquitin ligase
CC (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-
CC kappa-B (PubMed:15799966). {ECO:0000269|PubMed:15799966,
CC ECO:0000305|PubMed:21778237}.
CC -!- SUBUNIT: Interacts (via COMM domain) with COMMD1 (via COMM domain)
CC (PubMed:15799966). Interacts with RELA, RELB, NFKB1/p105. Interacts
CC with CCDC22, CCDC93, SCNN1B, CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5
CC (PubMed:15799966, PubMed:21778237, PubMed:23563313, PubMed:23637203,
CC PubMed:25355947, PubMed:28892079). {ECO:0000269|PubMed:15799966,
CC ECO:0000269|PubMed:21778237, ECO:0000269|PubMed:23563313,
CC ECO:0000269|PubMed:23637203, ECO:0000269|PubMed:25355947,
CC ECO:0000269|PubMed:28892079}.
CC -!- INTERACTION:
CC Q9NX08; O60826: CCDC22; NbExp=6; IntAct=EBI-725694, EBI-3943153;
CC Q9NX08; Q567U6: CCDC93; NbExp=3; IntAct=EBI-725694, EBI-1104769;
CC Q9NX08; Q8N668: COMMD1; NbExp=3; IntAct=EBI-725694, EBI-1550112;
CC Q9NX08; Q9UBI1: COMMD3; NbExp=3; IntAct=EBI-725694, EBI-714979;
CC Q9NX08; Q9H0A8: COMMD4; NbExp=9; IntAct=EBI-725694, EBI-1550064;
CC Q9NX08; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-725694, EBI-17269964;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21778237}. Nucleus
CC {ECO:0000269|PubMed:21778237}.
CC -!- TISSUE SPECIFICITY: Widely expressed with highest expression in
CC thyroid. {ECO:0000269|PubMed:15799966}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG14957.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY542163; AAS22245.1; -; mRNA.
DR EMBL; AF182421; AAG14957.1; ALT_FRAME; mRNA.
DR EMBL; AK000509; BAA91216.1; -; mRNA.
DR EMBL; BC015145; AAH15145.1; -; mRNA.
DR EMBL; BC008371; AAH08371.1; -; mRNA.
DR EMBL; BC019826; AAH19826.1; -; mRNA.
DR CCDS; CCDS3475.1; -.
DR RefSeq; NP_001316597.1; NM_001329668.1.
DR RefSeq; NP_060315.1; NM_017845.4.
DR AlphaFoldDB; Q9NX08; -.
DR SMR; Q9NX08; -.
DR BioGRID; 120289; 61.
DR CORUM; Q9NX08; -.
DR IntAct; Q9NX08; 47.
DR MINT; Q9NX08; -.
DR STRING; 9606.ENSP00000370984; -.
DR iPTMnet; Q9NX08; -.
DR MetOSite; Q9NX08; -.
DR PhosphoSitePlus; Q9NX08; -.
DR BioMuta; COMMD8; -.
DR DMDM; 51316105; -.
DR EPD; Q9NX08; -.
DR jPOST; Q9NX08; -.
DR MassIVE; Q9NX08; -.
DR MaxQB; Q9NX08; -.
DR PaxDb; Q9NX08; -.
DR PeptideAtlas; Q9NX08; -.
DR PRIDE; Q9NX08; -.
DR ProteomicsDB; 83019; -.
DR TopDownProteomics; Q9NX08; -.
DR Antibodypedia; 23755; 91 antibodies from 17 providers.
DR DNASU; 54951; -.
DR Ensembl; ENST00000381571.6; ENSP00000370984.4; ENSG00000169019.11.
DR GeneID; 54951; -.
DR KEGG; hsa:54951; -.
DR MANE-Select; ENST00000381571.6; ENSP00000370984.4; NM_017845.5; NP_060315.1.
DR UCSC; uc003gxi.4; human.
DR CTD; 54951; -.
DR DisGeNET; 54951; -.
DR GeneCards; COMMD8; -.
DR HGNC; HGNC:26036; COMMD8.
DR HPA; ENSG00000169019; Low tissue specificity.
DR MIM; 616656; gene.
DR neXtProt; NX_Q9NX08; -.
DR OpenTargets; ENSG00000169019; -.
DR PharmGKB; PA134876825; -.
DR VEuPathDB; HostDB:ENSG00000169019; -.
DR eggNOG; ENOG502S00F; Eukaryota.
DR GeneTree; ENSGT00390000018121; -.
DR HOGENOM; CLU_116006_0_0_1; -.
DR InParanoid; Q9NX08; -.
DR OMA; KLCHRVV; -.
DR OrthoDB; 1555523at2759; -.
DR PhylomeDB; Q9NX08; -.
DR TreeFam; TF328403; -.
DR PathwayCommons; Q9NX08; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR SignaLink; Q9NX08; -.
DR BioGRID-ORCS; 54951; 46 hits in 1042 CRISPR screens.
DR ChiTaRS; COMMD8; human.
DR GenomeRNAi; 54951; -.
DR Pharos; Q9NX08; Tdark.
DR PRO; PR:Q9NX08; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NX08; protein.
DR Bgee; ENSG00000169019; Expressed in choroid plexus epithelium and 196 other tissues.
DR Genevisible; Q9NX08; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR InterPro; IPR017920; COMM.
DR Pfam; PF07258; COMM_domain; 1.
DR PROSITE; PS51269; COMM; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..183
FT /note="COMM domain-containing protein 8"
FT /id="PRO_0000077401"
FT DOMAIN 116..183
FT /note="COMM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00602"
FT VARIANT 17
FT /note="A -> P (in dbSNP:rs35444219)"
FT /id="VAR_048814"
FT CONFLICT 127
FT /note="A -> L (in Ref. 4; AAH19826)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 183 AA; 21090 MW; 59B48D6D7CECCCC7 CRC64;
MEPEEGTPLW RLQKLPAELG PQLLHKIIDG ICGRAYPVYQ DYHTVWESEE WMHVLEDIAK
FFKAIVGKNL PDEEIFQQLN QLNSLHQETI MKCVKSRKDE IKQALSREIV AISSAQLQDF
DWQVKLALSS DKIAALRMPL LSLHLDVKEN GEVKPYSIEM SREELQNLIQ SLEAANKVVL
QLK
