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

Gene ID: 150684, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 5.7), testis (RPKM 5.6) and 25 other tissues See more
Orthologs
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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 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

  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