LOCUS       NM_152516                695 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens copper metabolism domain containing 1 (COMMD1),
            transcript variant 1, mRNA.
ACCESSION   NM_152516
VERSION     NM_152516.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 695)
  AUTHORS   Carpio Alvarez,M., Cintado Benitez,A., Diaz Argudin,T., Nodarse
            Cuni,H., Dominguez Horta,M.D.C. and Fernandez Masso,J.R.
  TITLE     Association between COMMD1 gene polymorphism rs11125908 and
            rheumatoid arthritis in the Cuban population
  JOURNAL   Reumatismo 76 (2) (2024)
   PUBMED   38916163
  REMARK    GeneRIF: Association between COMMD1 gene polymorphism rs11125908
            and rheumatoid arthritis in the Cuban population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 695)
  AUTHORS   Healy,M.D., McNally,K.E., Butkovic,R., Chilton,M., Kato,K.,
            Sacharz,J., McConville,C., Moody,E.R.R., Shaw,S.,
            Planelles-Herrero,V.J., Yadav,S.K.N., Ross,J., Borucu,U.,
            Palmer,C.S., Chen,K.E., Croll,T.I., Hall,R.J., Caruana,N.J.,
            Ghai,R., Nguyen,T.H.D., Heesom,K.J., Saitoh,S., Berger,I.,
            Schaffitzel,C., Williams,T.A., Stroud,D.A., Derivery,E.,
            Collins,B.M. and Cullen,P.J.
  TITLE     Structure of the endosomal Commander complex linked to
            Ritscher-Schinzel syndrome
  JOURNAL   Cell 186 (10), 2219-2237 (2023)
   PUBMED   37172566
REFERENCE   3  (bases 1 to 695)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 695)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 695)
  AUTHORS   Weiskirchen,R. and Penning,L.C.
  TITLE     COMMD1, a multi-potent intracellular protein involved in copper
            homeostasis, protein trafficking, inflammation, and cancer
  JOURNAL   J Trace Elem Med Biol 65, 126712 (2021)
   PUBMED   33482423
  REMARK    GeneRIF: COMMD1, a multi-potent intracellular protein involved in
            copper homeostasis, protein trafficking, inflammation, and cancer.
            Review article
REFERENCE   6  (bases 1 to 695)
  AUTHORS   Tao,T.Y., Liu,F., Klomp,L., Wijmenga,C. and Gitlin,J.D.
  TITLE     The copper toxicosis gene product Murr1 directly interacts with the
            Wilson disease protein
  JOURNAL   J Biol Chem 278 (43), 41593-41596 (2003)
   PUBMED   12968035
  REMARK    GeneRIF: findings reveal involvement of Murr1 in the defined
            pathway of hepatic biliary copper excretion, suggest a mechanism
            for Murr1 function in this process, and provide evidence in support
            of the proposed role of the MURR1 gene in hepatic copper toxicosis
REFERENCE   7  (bases 1 to 695)
  AUTHORS   Muller,T., van de Sluis,B., Zhernakova,A., van Binsbergen,E.,
            Janecke,A.R., Bavdekar,A., Pandit,A., Weirich-Schwaiger,H.,
            Witt,H., Ellemunter,H., Deutsch,J., Denk,H., Muller,W.,
            Sternlieb,I., Tanner,M.S. and Wijmenga,C.
  TITLE     The canine copper toxicosis gene MURR1 does not cause non-Wilsonian
            hepatic copper toxicosis
  JOURNAL   J Hepatol 38 (2), 164-168 (2003)
   PUBMED   12547404
  REMARK    GeneRIF: No mutations in the MURR1 gene, including the intron-exon
            boundaries, were identified in a total of 23 patients with
            non-Wilsonian hepatic copper toxicosis
REFERENCE   8  (bases 1 to 695)
  AUTHORS   van De Sluis,B., Rothuizen,J., Pearson,P.L., van Oost,B.A. and
            Wijmenga,C.
  TITLE     Identification of a new copper metabolism gene by positional
            cloning in a purebred dog population
  JOURNAL   Hum Mol Genet 11 (2), 165-173 (2002)
   PUBMED   11809725
REFERENCE   9  (bases 1 to 695)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (bases 1 to 695)
  AUTHORS   Nabetani,A., Hatada,I., Morisaki,H., Oshimura,M. and Mukai,T.
  TITLE     Mouse U2af1-rs1 is a neomorphic imprinted gene
  JOURNAL   Mol Cell Biol 17 (2), 789-798 (1997)
   PUBMED   9001233
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107081.5, AC116652.4 and AC018462.4.
            
            On Feb 5, 2021 this sequence version replaced NM_152516.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB178811.1, BC009266.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311832.6/ ENSP00000308236.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-185               AC107081.5         83794-83978
            186-467             AC116652.4         15620-15901
            468-695             AC018462.4         84362-84589         c
FEATURES             Location/Qualifiers
     source          1..695
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..695
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /note="copper metabolism domain containing 1"
                     /db_xref="GeneID:150684"
                     /db_xref="HGNC:HGNC:23024"
                     /db_xref="MIM:607238"
     exon            1..185
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             6..578
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /note="isoform 1 is encoded by transcript variant 1; COMM
                     domain-containing protein 1; copper metabolism gene MURR1;
                     protein Murr1; copper metabolism (Murr1) domain containing
                     1"
                     /codon_start=1
                     /product="COMM domain-containing protein 1 isoform 1"
                     /protein_id="NP_689729.1"
                     /db_xref="CCDS:CCDS1869.1"
                     /db_xref="GeneID:150684"
                     /db_xref="HGNC:HGNC:23024"
                     /db_xref="MIM:607238"
                     /translation="MAAGELEGGKPLSGLLNALAQDTFHGYPGITEELLRSQLYPEVP
                     PEEFRPFLAKMRGILKSIASADMDFNQLEAFLTAQTKKQGGITSDQAAVISKFWKSHK
                     TKIRESLMNQSRWNSGLRGLSWRVDGKSQSRHSAQIHTPVAIIELELGKYGQESEFLC
                     LEFDEVKVNQILKTLSEVEESISTLISQPN"
     exon            186..467
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /inference="alignment:Splign:2.1.0"
     exon            468..695
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      675..680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /note="hexamer: ATTAAA"
     polyA_site      695
                     /gene="COMMD1"
                     /gene_synonym="C2orf5; MURR1"
                     /note="major polyA site"
ORIGIN      
        1 agagcatggc ggcgggcgag cttgagggtg gcaaacccct gagcgggctg ctgaatgcgc
       61 tggcccagga cactttccac gggtaccccg gcatcacaga ggagctgcta cggagccagc
      121 tatatccaga ggtgccaccc gaggagttcc gcccctttct ggcaaagatg agggggattc
      181 ttaagtctat tgcgtctgca gacatggatt tcaaccagct ggaggcattc ttgactgctc
      241 aaaccaaaaa gcaaggtggg atcacatctg accaagctgc tgtcatttcc aaattctgga
      301 agagccacaa gacaaaaatc cgtgagagcc tcatgaacca gagccgctgg aatagcgggc
      361 ttcggggcct gagctggaga gttgatggca agtctcagtc aaggcactca gctcaaatac
      421 acacacctgt tgccattata gagctggaat taggcaaata tggacaggaa tctgaatttc
      481 tgtgtttgga atttgatgag gtcaaagtca accaaattct gaagacgctg tcagaggtag
      541 aagaaagtat cagcacactg atcagccagc ctaactgaag atgatgtatg aaggagttgg
      601 agttgttgaa accaaggtgt ccatgatccc tccccactga ccttttctaa gaaaattctt
      661 gtgcccgcat tggtattaaa tcctcgcatt cagtc
//
