Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	150684
Gene name Gene Name - the full gene name approved by the HGNC.	Copper metabolism domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COMMD1
Synonyms (NCBI Gene) Gene synonyms aliases	C2orf5, MURR1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p15
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments
MIRT903314	hsa-miR-2681	CLIP-seq
MIRT903315	hsa-miR-3150a-3p	CLIP-seq
MIRT903316	hsa-miR-3175	CLIP-seq
MIRT903317	hsa-miR-374c	CLIP-seq
MIRT903318	hsa-miR-4728-5p	CLIP-seq
MIRT903319	hsa-miR-4737	CLIP-seq
MIRT903320	hsa-miR-4767	CLIP-seq
MIRT903321	hsa-miR-490-5p	CLIP-seq
MIRT903322	hsa-miR-491-5p	CLIP-seq
MIRT903323	hsa-miR-655	CLIP-seq
MIRT903324	hsa-miR-939	CLIP-seq
MIRT903317	hsa-miR-374c	CLIP-seq
MIRT903320	hsa-miR-4767	CLIP-seq
MIRT903323	hsa-miR-655	CLIP-seq

Show/Hide all(58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IDA	17309234
GO:0005515	Function	Protein binding	IPI	12968035, 14645214, 14685242, 14685266, 15799966, 17183367, 17919502, 18305112, 20237237, 21667063, 21778237, 23563313, 25355947, 25416956, 26496610, 28514442, 28604741, 28892079, 29778605, 30833792, 31694235, 32296183, 32867128, 33961781, 35271311, 37172566
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	18940794
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	18940794
GO:0005634	Component	Nucleus	IDA	15799966
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	14685266
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	25355947
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006289	Process	Nucleotide-excision repair	IMP	23144634
GO:0006893	Process	Golgi to plasma membrane transport	IMP	25355947
GO:0008289	Function	Lipid binding	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0019871	Function	Sodium channel inhibitor activity	IDA	14645214
GO:0031398	Process	Positive regulation of protein ubiquitination	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17183367, 21741370
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031462	Component	Cul2-RING ubiquitin ligase complex	IDA	17183367
GO:0031648	Process	Protein destabilization	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	16573520
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	15799966
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	17183367
GO:0032434	Process	Regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032434	Process	Regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	17183367
GO:0034383	Process	Low-density lipoprotein particle clearance	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	15799966
GO:0042803	Function	Protein homodimerization activity	IPI	15799966, 17309234
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	18940794
GO:0046872	Function	Metal ion binding	IEA
GO:0048227	Process	Plasma membrane to endosome transport	IDA	21741370
GO:0055037	Component	Recycling endosome	IDA	21741370
GO:0055037	Component	Recycling endosome	IEA
GO:0055070	Process	Copper ion homeostasis	IBA
GO:0055070	Process	Copper ion homeostasis	IDA	14685266
GO:0055070	Process	Copper ion homeostasis	IEA
GO:0070300	Function	Phosphatidic acid binding	IDA	18940794
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	18940794
GO:0097006	Process	Regulation of plasma lipoprotein particle levels	IEA
GO:1902072	Process	Negative regulation of hypoxia-inducible factor-1alpha signaling pathway	IEA
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IBA
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IDA	14645214
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IMP	20237237
GO:1904109	Process	Positive regulation of cholesterol import	IEA
GO:1905751	Process	Positive regulation of endosome to plasma membrane protein transport	IEA
GO:2000009	Process	Negative regulation of protein localization to cell surface	IBA
GO:2000009	Process	Negative regulation of protein localization to cell surface	IDA	21741370
GO:2000010	Process	Positive regulation of protein localization to cell surface	IEA

MIM	HGNC	e!Ensembl
607238	23024	ENSG00000173163

Protein

UniProt ID

Q8N668

Protein name

COMM domain-containing protein 1 (Protein Murr1)

Protein function

Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). Can modulate ac

PDB

2H2M , 8F2R , 8F2U , 8P0W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17221	COMMD1_N	6 → 107	COMMD1 N-terminal domain	Domain
PF07258	COMM_domain	117 → 187	COMM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highest expression in the liver, with lower expression in brain, lung, placenta, pancreas, small intestine, heart, skeletal muscle, kidney and placenta. Down-regulated in cancer tissues. {ECO:0000269|PubMed:11809725, ECO:00

Sequence

MAAGELEGGKPLSGLLNALAQDTFHGYPGITEELLRSQLYPEVPPEEFRPFLAKMRGILK
SIASADMDFNQLEAFLTAQTKKQGGITSDQAAVISKFWKSHKTKIRESLMNQSRWNSGLR
GLSWRVDGKSQSRHSAQIHTPVAIIELELGKYGQESEFLCLEFDEVKVNQILKTLSEVEE
SISTLISQPN

Sequence length

190

Interactions

View interactions

	Reactome
			Neddylation

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	14685242
Carcinogenesis	Associate	26586569
Carcinoma Hepatocellular	Associate	34493238, 40109870
Copper Toxicosis Idiopathic	Associate	12968035, 16543147, 20550661
Genetic Diseases Inborn	Associate	33494994
Hepatolenticular Degeneration	Associate	12968035, 17919502, 20550661
HIV Infections	Associate	14685242
Hypoxia	Associate	19802386
Infections	Associate	25520503
Inflammation	Associate	25520503
Inflammation	Inhibit	26586569
Lymphoma B Cell	Associate	26599546
Lymphoma Large B Cell Diffuse	Associate	24625556, 24832791
Neoplasms	Associate	18305112, 26586569, 34493238
Neoplastic Syndromes Hereditary	Associate	17919502
Ovarian Neoplasms	Associate	27788210
Prostatic Neoplasms	Associate	20068069
Squamous Cell Carcinoma of Head and Neck	Associate	26586569

COMMD1 (copper metabolism domain containing 1)