COMMD1 - copper metabolism domain containing 1 Gene

Homo sapiens

Also known as MURR1; C2orf5

Gene ID: 150684 | Gene type: protein coding

About COMMD1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:61,888,391-62,136,058 (from NCBI)

This gene has 8 transcripts (splice variants) and 222 orthologues. Ubiquitous expression in heart (RPKM 5.7), testis (RPKM 5.6) and 25 other tissues.

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]

COMMD1 Products(4)

mRNA	Protein	Name
NM_001321781.3	NP_001308710.1	COMM domain-containing protein 1 isoform 2
NM_001321782.3	NP_001308711.1	COMM domain-containing protein 1 isoform 2
NM_001371765.2	NP_001358694.1	COMM domain-containing protein 1 isoform 2
NM_152516.4	NP_689729.1	COMM domain-containing protein 1 isoform 1

COMMD1 Protein Structure

COMM_domain

0
100
190 a.a.

Protein Preferred Names

Protein Names

COMM domain-containing protein 1

copper metabolism (Murr1) domain containing 1

Related Diseases

Diseases

Alias

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Nephrotic Syndrome, Type 20

NPHS20	Nephrotic Syndrome Type 20
Nephrotic Syndrome 20

Peroxisome Biogenesis Disorder 11a

PBD11A	Peroxisome Biogenesis Disorder Complementation Group 13
PBD-CG13	Cg13
Pbd-Cgh	Peroxisome Biogenesis Disorder Complementation Group H
Peroxisome Biogenesis Disorder, Type 11a	Peroxisome Biogenesis Disorder, Complementation Group 13

Retinitis Pigmentosa 28

RP28	Retinitis Pigmentosa, Type 28

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03009	COMMD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COMMD1	RGD	RGD:1311771
Bos taurus	COMMD1	VGNC	VGNC:27581
Canis familiaris	COMMD1	VGNC	VGNC:39491
Felis catus	COMMD1	VGNC	VGNC:61074
Mus musculus	COMMD1	MGD	MGI:109474
Macaca mulatta	COMMD1	VGNC	VGNC:82130

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