ID COMD1_HUMAN STANDARD; PRT; 190 AA. AC Q8N668; Q96GS0; DT 25-OCT-2004 (Rel. 45, Created) DT 25-OCT-2004 (Rel. 45, Last sequence update) DT 01-MAY-2005 (Rel. 47, Last annotation update) DE COMM domain containing protein 1 (Murr1 protein). GN Name=COMMD1; Synonyms=C2orf5, MURR1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE. RX PubMed=12547404; DOI=10.1016/S0168-8278(02)00356-2; RA Mueller T., van de Sluis B.A.J., Zhernakova A., van Binsbergen E., RA Janecke A.R., Bavdekar A., Pandit A., Weirich-Schwaiger H., Witt H., RA Ellemunter H., Deutsch J., Denk H., Mueller W., Sternlieb I., RA Tanner M.S., Wijmenga C.; RT "The canine copper toxicosis gene MURR1 does not cause non-Wilsonian RT hepatic copper toxicosis."; RL J. Hepatol. 38:164-168(2003). RN [2] RP NUCLEOTIDE SEQUENCE. RX PubMed=15205742; DOI=10.1007/s00109-004-0557-9; RA Stuehler B., Reichert J., Stremmel W., Schaefer M.; RT "Analysis of the human homologue of the canine copper toxicosis gene RT MURR1 in Wilson disease patients."; RL J. Mol. Med. 82:629-634(2004). RN [3] RP NUCLEOTIDE SEQUENCE. RC TISSUE=Kidney; RA Zhang Z., Yatsuki H., Wang Y., Joh K., Nabetani A., Hatada I., RA Soejima H., Iwasaka T., Mukai T.; RT "Comparative analyses of gene imprinting and CpG island methylation RT around mouse Murr1 and human syntenic region identify the 5'-portion RT of U2af1-rs1 CpG island as an imprinting control region."; RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Ovary, and Skin; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [5] RP TISSUE SPECIFICITY. RX PubMed=11809725; DOI=10.1093/hmg/11.2.165; RA van De Sluis B.A.J., Rothuizen J., Pearson P.L., van Oost B.A., RA Wijmenga C.; RT "Identification of a new copper metabolism gene by positional cloning RT in a purebred dog population."; RL Hum. Mol. Genet. 11:165-173(2002). RN [6] RP INTERACTION WITH ATP7B. RX PubMed=12968035; DOI=10.1074/jbc.C300391200; RA Tao T.Y., Liu F., Klomp L., Wijmenga C., Gitlin J.D.; RT "The copper toxicosis gene product Murr1 directly interacts with the RT Wilson disease protein."; RL J. Biol. Chem. 278:41593-41596(2003). CC -!- FUNCTION: May function to facilitate biliary copper excretion CC within hepatocytes. CC -!- SUBUNIT: Interacts with the N-terminal region of ATP7B. CC -!- TISSUE SPECIFICITY: Highest expression in the liver, with lower CC expression in heart, skeletal muscle, kidney and placenta. CC -!- SIMILARITY: Contains 1 COMM domain. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB178811; BAD18972.1; -. DR EMBL; BC009266; AAH09266.2; -. DR EMBL; BC022046; AAH22046.1; -. DR Ensembl; ENSG00000173163; Homo sapiens. DR Genew; HGNC:23024; COMMD1. DR MIM; 607238; -. SQ SEQUENCE 190 AA; 21178 MW; 9C810AECA67011DC CRC64; MAAGELEGGK PLSGLLNALA QDTFHGYPGI TEELLRSQLY PEVPPEEFRP FLAKMRGILK SIASADMDFN QLEAFLTAQT KKQGGITSDQ AAVISKFWKS HKTKIRESLM NQSRWNSGLR GLSWRVDGKS QSRHSAQIHT PVAIIELELG KYGQESEFLC LEFDEVKVNQ ILKTLSEVEE SISTLISQPN //