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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables copper ion binding	IDA IDA: Inferred from direct assay	17309234	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15799966	GOA
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	18940794	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	18940794	GOA
enables phosphatidylinositol-3,4-bisphosphate binding	IDA IDA: Inferred from direct assay	18940794	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	18940794	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	18940794	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12968035	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15799966	GOA
enables sodium channel inhibitor activity	IDA IDA: Inferred from direct assay	14645214	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi to plasma membrane transport	IMP IMP: Inferred from mutant phenotype	25355947	GOA
involved in copper ion homeostasis	IDA IDA: Inferred from direct assay	14685266	GOA
acts upstream of or within negative regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	16573520	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	15799966	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	17183367	GOA
involved in negative regulation of protein localization to cell surface	IDA IDA: Inferred from direct assay	21741370	GOA
involved in negative regulation of sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	14645214	GOA
involved in negative regulation of sodium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	20237237	GOA
involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	23144634	GOA
involved in plasma membrane to endosome transport	IDA IDA: Inferred from direct assay	21741370	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17183367	GOA
involved in regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	17183367	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul2-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	17183367	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	14685266	GOA
located in early endosome	IDA IDA: Inferred from direct assay	25355947	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15799966	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	21741370	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

COMMD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Anti Bait CoIP	25355947
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Pull Down	25355947
Intra	COMMD1	Q8N668	CCDC93	Homo sapiens	Q567U6	Confocal	25355947
Intra	COMMD1	Q8N668	ATP7B	Homo sapiens	P35670	Pull Down	12968035
Intra	COMMD1	Q8N668	ATP7B	Homo sapiens	P35670	Confocal	17919502
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	TAP	23563313
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	TAP	15799966
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	GMS	37172566
Intra	COMMD1	Q8N668	COMMD4	Homo sapiens	Q9H0A8	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Y2H Array	25416956
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Y2H Array	32296183
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Validated Y2H	25416956
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	TAP	23563313
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Anti Bait CoIP	23563313
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	GMS	37172566
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Y2H Prey Pooling	25416956
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	TAP	15799966
Intra	COMMD1	Q8N668	COMMD6	Homo sapiens	Q7Z4G1	Y2H Prey Pooling	32296183
Intra	COMMD1	Q8N668	CCDC22	Homo sapiens	O60826	Anti Bait CoIP	23563313
Intra	COMMD1	Q8N668	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD2	Homo sapiens	Q86X83	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD5	Homo sapiens	Q9GZQ3	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD7	Homo sapiens	Q86VX2	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD7	Homo sapiens	Q86VX2	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	TCEAL8	Homo sapiens	Q8IYN2	Y2H Prey Pooling	32296183
Intra	COMMD1	Q8N668	TCEAL8	Homo sapiens	Q8IYN2	Y2H Array	32296183
Intra	COMMD1	Q8N668	SCNN1D	Homo sapiens	P51172	Pull Down	14645214
Intra	COMMD1	Q8N668	ELOC	Homo sapiens	Q15369	Pull Down	23563313
Intra	COMMD1	Q8N668	ELOC	Homo sapiens	Q15369	Pull Down	17183367
Intra	COMMD1	Q8N668	REL	Homo sapiens	Q04864	Anti Bait CoIP	15799966
Intra	COMMD1	Q8N668	REL	Homo sapiens	Q04864	Pull Down	15799966
Intra	COMMD1	Q8N668	NFKBIA	Homo sapiens	P25963	Anti Tag CoIP	14685242
Intra	COMMD1	Q8N668	RELB	Homo sapiens	Q01201	Pull Down	15799966
Intra	COMMD1	Q8N668	CUL2	Homo sapiens	Q13617	Pull Down	23563313
Intra	COMMD1	Q8N668	CUL2	Homo sapiens	Q13617	Pull Down	17183367
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	TAP	23563313
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	TAP	15799966
Intra	COMMD1	Q8N668	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	37172566
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	Pull Down	15799966
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	28514442
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	3D-EM	37172566
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	33961781
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	GMS	37172566
Intra	COMMD1	Q8N668	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	35271311
Intra	COMMD1	Q8N668	RELA	Homo sapiens	Q04206	Anti Bait CoIP	15799966
Intra	COMMD1	Q8N668	RELA	Homo sapiens	Q04206	Pull Down	15799966
Intra	COMMD1	Q8N668	UPRT	Homo sapiens	Q96BW1	Validated Y2H	32296183
Intra	COMMD1	Q8N668	SOCS1	Homo sapiens	O15524	Pull Down	17183367

Cross: Cross-species interaction Intra: Intraspecies interaction

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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