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    COMMD1 copper metabolism domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 150684, updated on 17-Jun-2019

    Summary

    Official Symbol
    COMMD1provided by HGNC
    Official Full Name
    copper metabolism domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23024
    See related
    Ensembl:ENSG00000173163 MIM:607238
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MURR1; C2orf5
    Summary
    COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
    Expression
    Ubiquitous expression in heart (RPKM 5.7), testis (RPKM 5.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See COMMD1 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (61888723..62136070)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62115904..62363205)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene serine and arginine repetitive matrix 1 pseudogene Neighboring gene chaperonin containing TCP1 subunit 4 Neighboring gene uncharacterized LOC107985768 Neighboring gene ribosomal protein SA pseudogene 26 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 Neighboring gene microRNA 5192

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Copper homeostasis, organism-specific biosystem (from WikiPathways)
      Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC27155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi to plasma membrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein localization to cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of protein localization to cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    plasma membrane to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    COMM domain-containing protein 1
    Names
    copper metabolism (Murr1) domain containing 1
    copper metabolism gene MURR1
    protein Murr1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321781.1NP_001308710.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BG182961, DT217730, HY039942
      Conserved Domains (1) summary
      cl06336
      Location:1119
      Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
    2. NM_001321782.1NP_001308711.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BG182961, DT217730, HY039942
      Conserved Domains (1) summary
      cl06336
      Location:1119
      Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
    3. NM_152516.3NP_689729.1  COMM domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689729.1

      Status: VALIDATED

      Source sequence(s)
      AB178811, BG182961, HY001060
      Consensus CDS
      CCDS1869.1
      UniProtKB/Swiss-Prot
      Q8N668
      Related
      ENSP00000308236.5, ENST00000311832.5
      Conserved Domains (1) summary
      cd04749
      Location:12185
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      61888723..62136070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532558.2XP_011530860.1  COMM domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      cd04749
      Location:12154
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...
    2. XM_017003412.1XP_016858901.1  COMM domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      cl06336
      Location:1119
      Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
    3. XM_011532559.2XP_011530861.1  COMM domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      cd04749
      Location:2126
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...
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