COMMD1 copper metabolism (Murr1) domain containing 1 [Homo sapiens] - Gene

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Summary

Official Symbol: COMMD1provided by HGNC
Official Full Name: copper metabolism (Murr1) domain containing 1provided by HGNC
Primary source: HGNC:23024
See related: Ensembl:ENSG00000173163; HPRD:06253; MIM:607238; Vega:OTTHUMG00000129445
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; MGC27155
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]

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Genomic context

Location :: 2p15

Sequence :: Chromosome: 2; NC_000002.11 (62132803..62363205)

See COMMD1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
Title: Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding.
Title: COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding.
These results suggest that COMMD1 downregulates deltaENaC activity by reducing deltaENaC surface expression through promoting internalization of surface deltaENaC to an intracellular recycling pool, possibly via enhanced ubiquitination.
Title: COMMD1 regulates the delta epithelial sodium channel (δENaC) through trafficking and ubiquitination.
Data show that COMMD1 interacts with CFTR. This interaction promotes CFTR cell surface expression as assessed by biotinylation experiments in heterologously expressing cells through regulation of CFTR ubiquitination.
Title: COMMD1-mediated ubiquitination regulates CFTR trafficking.
We argue that COMMD1 participates in the normal disposition of copper within the hepatocyte and we speculate about that role.
Title: The puzzle posed by COMMD1, a newly discovered protein binding Cu(II).
COMMD1 as a novel protein regulating SOD1 activation and associate COMMD1 function with the production of free radicals.
Title: Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1.
report a single novel, putative mutation in COMMD1 in one Wilson disease (WD) patient with atypical features; absence of any other prospective mutations among 108 patients suggests that COMMD1 variants are not major contributors towards WD phenotypes
Title: A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Elevated levels of sCLU promote prostate cancer cell survival by facilitating degradation of COMMD1 and I-kappaB, thereby activating the canonical NF-kappaB pathway.
Title: Clusterin facilitates COMMD1 and I-kappaB degradation to enhance NF-kappaB activity in prostate cancer cells.
COMMD1 has a role in conjunction with HSP90beta/HSP70 in the ubiquitin and O(2)-independent regulation of HIF-1alpha
Title: COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.

Submit: New GeneRIF Correction See all (31)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_689729.1	NP_003583.2	CUL1	BIND	PubMed	Murr1 interacts with Cul1 a component of the Cul1-Rbx1-Skp1-F Box Scf Ubiquitin Ligase complex.
NP_689729.1	NP_065390.1	NFKBIA	BIND	PubMed	Murr1 interacts with I-kappaB-alpha
Q8N668	Q8N668	COMMD1	HPRD	PubMed
Q8N668	Q9Y6G5	COMMD10	HPRD	PubMed
Q8N668	Q86X83	COMMD2	HPRD	PubMed
Q8N668	Q9UBI1	COMMD3	HPRD	PubMed
Q8N668	Q9H0A8	COMMD4	HPRD	PubMed
Q8N668	Q9GZQ3	COMMD5	HPRD	PubMed
Q8N668	Q7Z4G1	COMMD6	HPRD	PubMed
Q8N668	Q86VX2	COMMD7	HPRD	PubMed
Q8N668	Q9NX08	COMMD8	HPRD	PubMed
Q8N668	Q13616	CUL1	HPRD	PubMed
Q8N668	Q13617	CUL2	HPRD	PubMed
Q8N668	P25963	NFKBIA	HPRD	PubMed
Q8N668	Q04206	RELA	HPRD	PubMed
Q8N668	O15524	SOCS1	HPRD	PubMed
Q8N668	P98170	XIAP	HPRD	PubMed
BioGRID:127317	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:127317	BioGRID:107506	CFTR	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:127317	BioGRID:107603	CLU	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:127317	BioGRID:114032	CUL1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:127317	BioGRID:114031	CUL2	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:127317	BioGRID:114030	CUL3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:127317	BioGRID:114029	CUL4A	BioGRID	PubMed	Reconstituted Complex
BioGRID:127317	BioGRID:114028	CUL4B	BioGRID	PubMed	Reconstituted Complex
BioGRID:127317	BioGRID:113743	CUL5	BioGRID	PubMed	Reconstituted Complex
BioGRID:127317	BioGRID:115159	CUL7	BioGRID	PubMed	Reconstituted Complex
BioGRID:127317	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127317	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127317	BioGRID:108918	KAT2A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:127317	BioGRID:110859	NFKBIA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127317	BioGRID:111902	RELA	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:127317	BioGRID:112242	SCNN1B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127317	BioGRID:112243	SCNN1D	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:127317	BioGRID:112344	SGK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127317	BioGRID:114203	SOCS1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:127317	BioGRID:112783	TCEB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:127317	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:127317	BioGRID:106828	XIAP	BioGRID	PubMed	Reconstituted Complex

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
metal ion binding	IEA Inferred from Electronic Annotation more info
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
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
positive regulation of protein ubiquitination	IDA Inferred from Direct Assay 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
cell junction	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: COMM domain-containing protein 1

Names: COMM domain-containing protein 1; protein Murr1; copper metabolism gene MURR1

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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)

NM_152516.2 → NP_689729.1 COMM domain-containing protein 1

Status: VALIDATED

Source sequence(s)

AB178811, BC022046, BG182961, BG183486, BG215225

Consensus CDS

CCDS1869.1

UniProtKB/Swiss-Prot

Q8N668

Related

ENSP00000308236, OTTHUMP00000159817, ENST00000311832, OTTHUMT00000251607

Conserved Domains (1) summary

cd04749
Location:12 – 185
Blast Score: 698

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

62132803..62363205

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

61871871..62101672

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC018462.4	AAX93080.1
genomic	AC107081.5	AAY24141.1
genomic	AC116652.4	AAY24054.1
genomic	CH471053.2	EAW99981.1
mRNA	AB178811.1	BAD18972.1
mRNA	AK223607.1	BAD97327.1
mRNA	AK294203.1	BAG57515.1
mRNA	BC009266.2	AAH09266.2
mRNA	BC022046.1	AAH22046.1
mRNA	BG182961.1	None
mRNA	BG183486.1	None
mRNA	BG215225.1	None
mRNA	D85433.1	None
other-genetic	HQ447741.1	ADQ32226.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q53EN2	GenPept	UniProtKB/TrEMBL:Q53EN2
Q53Q75	GenPept	UniProtKB/TrEMBL:Q53Q75
Q53QP8	GenPept	UniProtKB/TrEMBL:Q53QP8
Q53SJ8	GenPept	UniProtKB/TrEMBL:Q53SJ8
Q8N668.1	GenPept	UniProtKB/Swiss-Prot:Q8N668