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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between COMMD1 gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population.
Title: Association between COMMD1 gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population.
COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer.
Title: COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer.
Long non-coding RNA SNHG5 suppresses the development of acute respiratory distress syndrome by targeting miR-205/COMMD1 axis.
Title: Long non-coding RNA SNHG5 suppresses the development of acute respiratory distress syndrome by targeting miR-205/COMMD1 axis.
Identification of the COMM-domain containing protein 1 as specific binding partner for the guanine-rich RNA sequence binding factor 1.
Title: Identification of the COMM-domain containing protein 1 as specific binding partner for the guanine-rich RNA sequence binding factor 1.
The screen identified copper metabolism MURR1 domaincontaining 1 (COMMD1) as a novel lamin A binding partner. Colocalization experiments using fluorescent confocal microscopy revealed that COMMD1 colocalized with lamin A in 293 cells.
Title: Identification of COMMD1 as a novel lamin A binding partner.
results suggest that COMMD1 regulates cell proliferation and cell cycle progression by modulating p21 Cip1 levels
Title: COMMD1 regulates cell proliferation and cell cycle progression by modulating p21 Cip1 levels.
Sp1 constitutively regulates the basal expression of the COMMD1 gene in human epithelial cell lines.
Title: Transcriptional regulation of HIV-1 host factor COMMD1 by the Sp family.
This study has thus revealed a novel nuclear complex of F-actin, DRR1 and COMMD1 that is involved in NF-kappaB degradation and cell cycle suppression in neuroblastoma cells.
Title: A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma.
these results identify COMMD1 and an E2F-metabolic pathway as key regulators of osteoclastogenic responses under pathological inflammatory conditions
Title: Hypoxia-Sensitive COMMD1 Integrates Signaling and Cellular Metabolism in Human Macrophages and Suppresses Osteoclastogenesis.
The COMMD1 downregulation by miR-205 promotes tumor development by modulating a positive feedback loop that amplifies inflammatory- and stemness-associated properties of cancer cells.
Title: Downregulation of COMMD1 by miR-205 promotes a positive feedback loop for amplifying inflammatory- and stemness-associated properties of cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16949 (e-PCR)
- UniSTS:11109

RH125633 (e-PCR)
- UniSTS:163231

D2S2165 (e-PCR), detects polymorphism
- UniSTS:80322

COMMD1 (e-PCR)
- UniSTS:505061

AFMB057ZC1 (e-PCR)
- UniSTS:38648

RH79649 (e-PCR)
- UniSTS:85753

RH70369 (e-PCR)
- UniSTS:27135

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

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

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Preferred Names: COMM domain-containing protein 1

Names: copper metabolism (Murr1) domain containing 1; copper metabolism gene MURR1; protein Murr1

NCBI Reference Sequences (RefSeq)

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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)

NM_001321781.3 → NP_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:1 → 119

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 ...
NM_001321782.3 → NP_001308711.1 COMM domain-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC018462, AC107081, AC116652

Conserved Domains (1) summary

cl06336
Location:1 → 119

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 ...
NM_001371765.2 → NP_001358694.1 COMM domain-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC018462, AC107081, AC116652

Conserved Domains (1) summary

cl06336
Location:1 → 119

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 ...
NM_152516.4 → NP_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:12 → 185

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

61888391..62136058

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q53EN2

Conserved Domains (1) summary

cd04749
Location:12 → 154

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 ...
XM_017003412.2 → XP_016858901.1 COMM domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cl06336
Location:1 → 119

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 ...
XM_011532559.3 → XP_011530861.1 COMM domain-containing protein 1 isoform X2

Conserved Domains (1) summary

cd04749
Location:2 → 126

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

61894549..62142285

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q53EN2
XM_054340661.1 → XP_054196636.1 COMM domain-containing protein 1 isoform X3
XM_054340660.1 → XP_054196635.1 COMM domain-containing protein 1 isoform X2