Commd1 COMM domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Commd1provided by MGI
Official Full Name: COMM domain containing 1provided by MGI
Primary source: MGI:MGI:109474
See related: Ensembl:ENSMUSG00000051355 AllianceGenome:MGI:109474
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Murr1; U2/Mu
Summary: Predicted to enable several functions, including low-density lipoprotein particle receptor binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and phospholipid binding activity. Acts upstream of or within several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of protein localization. Located in endosome. Is expressed in several structures, including central nervous system; extraembryonic component; future brain; limb bud; and otocyst. Orthologous to human COMMD1 (copper metabolism domain containing 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis adult (RPKM 10.4), CNS E11.5 (RPKM 10.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A3.2; 11 14.22 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (22849728..22934539, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (22899728..22984539, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of COMMD1 accelerates diabetic atherosclerosis by promoting glycolysis.
Title: Disruption of COMMD1 accelerates diabetic atherosclerosis by promoting glycolysis.
Cardiomyocyte-Specific COMMD1 Deletion Suppresses Ischemia-Induced Myocardial Apoptosis.
Title: Cardiomyocyte-Specific COMMD1 Deletion Suppresses Ischemia-Induced Myocardial Apoptosis.
COMMD1 upregulation is involved in copper efflux from ischemic hearts.
Title: COMMD1 upregulation is involved in copper efflux from ischemic hearts.
Behavioral Effects of Neuronal, Parent-specific Commd1 Knockout in Mice.
Title: Behavioral Effects of Neuronal, Parent-specific Commd1 Knockout in Mice.
The efflux of copper from the ischemic heart results at least in part from the upregulation of copper metabolism MURR domain 1 (COMMD1) in the heart upon ischemic insult.
Title: The loss of copper is associated with the increase in copper metabolism MURR domain 1 in ischemic hearts of mice.
Results indicate that Commed1 transcribed through the DMR in the growing oocyte and that its predominant maternal expression is likely caused by transcriptional interference by paternal Zrsr1 expression.
Title: Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR.
this study shows COMMD1 suppresses bone loss in inflammatory arthritis and osteolysis models of rheumatoid arthritis
Title: Hypoxia-Sensitive COMMD1 Integrates Signaling and Cellular Metabolism in Human Macrophages and Suppresses Osteoclastogenesis.
Liver specific Commd1 knockout results in elevated plasma LDL cholesterol.
Title: CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Alteration of COMMD1 concentration influences copper and zinc homeostasis as well as ProSAP/Shank protein levels.
Title: Loss of COMMD1 and copper overload disrupt zinc homeostasis and influence an autism-associated pathway at glutamatergic synapses.
Copper metabolism domain-containing 1 represses genes that promote inflammation and protects mice from colitis and colitis-associated cancer.
Title: Copper metabolism domain-containing 1 represses genes that promote inflammation and protects mice from colitis and colitis-associated cancer.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Murr1 (e-PCR), detects polymorphism
- UniSTS:143935

Murr1 (e-PCR), detects polymorphism
- UniSTS:143936

Zrsr1 (e-PCR), detects polymorphism
- UniSTS:479299

U2af1-rs1 (e-PCR), detects polymorphism
- UniSTS:144716

PMC303337P1 (e-PCR)
- UniSTS:272493

PMC303337P2 (e-PCR)
- UniSTS:272494

PMC303337P4 (e-PCR)
- UniSTS:272496

Zrsr1 (e-PCR), detects polymorphism
- UniSTS:277884

RH137461 (e-PCR)
- UniSTS:219549

RH136105 (e-PCR)
- UniSTS:210100

PMC87265P1 (e-PCR)
- UniSTS:273589

PMC87265P2 (e-PCR)
- UniSTS:273590

Zrsr1 (e-PCR), detects polymorphism
- UniSTS:532163

Commd1 (e-PCR), detects polymorphism
- UniSTS:548089

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables copper ion binding	ISO Inferred from Sequence Orthology more info
enables copper ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sodium channel inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within copper ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in copper ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within low-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of hypoxia-inducible factor-1alpha signaling pathway	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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane to endosome transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cholesterol import	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of endosome to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype 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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein destabilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of plasma lipoprotein particle levels	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
part_of Cul2-RING ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: COMM domain-containing protein 1

Names: U2af1-rs1 region 1; copper metabolism domain containing 1; 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_001361661.1 → NP_001348590.1 COMM domain-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL772364, BB053099, BU582903, CX567872

UniProtKB/TrEMBL

Q3UGT3

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_144514.2 → NP_653097.2 COMM domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_653097.2

Status: VALIDATED

Source sequence(s)

AK133507, BB053099, BY337798

Consensus CDS

CCDS24472.1

UniProtKB/Swiss-Prot

Q3V012, Q80WG2, Q80Z41, Q8BNL9, Q8K2S9, Q8K4M5

UniProtKB/TrEMBL

A2RSF1

Related

ENSMUSP00000124719.2, ENSMUST00000159081.8

Conserved Domains (1) summary

cd04749
Location:11 → 184

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

22849728..22934539 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514563.4 → XP_006514626.1 COMM domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

F7BZY0

Related

ENSMUSP00000090958.6, ENSMUST00000093270.6

Conserved Domains (1) summary

cd04749
Location:11 → 156

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_017314316.3 → XP_017169805.1 COMM domain-containing protein 1 isoform X2

UniProtKB/TrEMBL

Q8VI86

Related

ENSMUSP00000053606.6, ENSMUST00000057843.12

Conserved Domains (1) summary

cd04749
Location:140 → 266

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 ...