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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	150684
Gene name	Copper metabolism domain containing 1
Gene symbol	COMMD1
Synonyms (NCBI Gene)	C2orf5MURR1
Chromosome	2
Chromosome location	2p15
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]

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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COPPER-OVERLOAD CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOG DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	24625556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28723554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25007851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25007851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26586569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34493238, 40109870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27788210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24727021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Copper-Overload Cirrhosis	Copper-Overload Cirrhosis	CTD_human_DG	22879914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23892095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24625556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	17919502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	12968035, 17919502, 20550661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	15099406, 15205742, 16610028, 16649058, 16868807, 17919502, 20550661, 22130675, 22879914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	15205742, 17919502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19802386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24727021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30719501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	17919502		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27788210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20068069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20458141, 24727021, 27788210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	21667063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26586569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28604741		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27788210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27788210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	GWASCAT_DG	30487263		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	20068069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20068069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28965583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28723554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28723554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26586569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26586569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24727021		★★★★★ ★☆☆☆☆ Found in Text Mining only

COMMD1 (copper metabolism domain containing 1)