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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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