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

    Gene ID: 150684, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:23024
    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
    Enables several functions, including phosphatidylinositol-3,4-bisphosphate binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including Golgi to plasma membrane transport; negative regulation of protein localization to cell surface; and regulation of protein metabolic process. Acts upstream of or within negative regulation of NF-kappaB transcription factor activity. Located in cytosol; endosome; and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 5.7), testis (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COMMD1 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61888391..62136058)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61894549..62142285)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62115526..62363193)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene serine and arginine repetitive matrix 1 pseudogene Neighboring gene uncharacterized LOC124907773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:62114819-62115380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:62115381-62115940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:62116501-62117060 Neighboring gene chaperonin containing TCP1 subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:62144288-62144788 Neighboring gene uncharacterized LOC124906012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15846 Neighboring gene MPRA-validated peak3724 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15849 Neighboring gene ribosomal protein SA pseudogene 26 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 1

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC27155

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in copper ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein localization to cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of protein localization to cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane to endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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_001321781.3NP_001308710.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018462, AC107081, AC116652
      Related
      ENST00000472729.1
      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_001321782.3NP_001308711.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018462, AC107081, AC116652
      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_001371765.2NP_001358694.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018462, AC107081, AC116652
      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 ...
    4. NM_152516.4NP_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)
      AC018462, AC107081, AC116652
      Consensus CDS
      CCDS1869.1
      UniProtKB/Swiss-Prot
      B4DFQ4, Q8N668, Q96GS0
      UniProtKB/TrEMBL
      Q53EN2
      Related
      ENSP00000308236.5, ENST00000311832.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      61888391..62136058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532558.3XP_011530860.1  COMM domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q53EN2
      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_017003412.2XP_016858901.1  COMM domain-containing protein 1 isoform X3

      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_011532559.3XP_011530861.1  COMM domain-containing protein 1 isoform X2

      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      61894549..62142285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340659.1XP_054196634.1  COMM domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q53EN2
    2. XM_054340661.1XP_054196636.1  COMM domain-containing protein 1 isoform X3

    3. XM_054340660.1XP_054196635.1  COMM domain-containing protein 1 isoform X2