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Aliases for COMMD1 Gene

Aliases for COMMD1 Gene

  • Copper Metabolism Domain Containing 1 2 3 5
  • Copper Metabolism (Murr1) Domain Containing 1 2 3
  • Copper Metabolism Gene MURR1 2 3
  • Protein Murr1 3 4
  • C2orf5 3 4
  • MURR1 3 4
  • Chromosome 2 Open Reading Frame 5 (MURR1) 2
  • COMM Domain-Containing Protein 1 3
  • COMM Domain Containing 1 2

External Ids for COMMD1 Gene

Previous HGNC Symbols for COMMD1 Gene

  • C2orf5

Previous GeneCards Identifiers for COMMD1 Gene

  • GC02P062108
  • GC02P062044
  • GC02P061986
  • GC02P062115

Summaries for COMMD1 Gene

Entrez Gene Summary for COMMD1 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]

GeneCards Summary for COMMD1 Gene

COMMD1 (Copper Metabolism Domain Containing 1) is a Protein Coding gene. Diseases associated with COMMD1 include Wilson Disease. Among its related pathways are Copper homeostasis and HIF Repressor Pathways. GO annotations related to this gene include protein homodimerization activity and copper ion binding.

UniProtKB/Swiss-Prot for COMMD1 Gene

  • Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074). Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370). Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833). Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). Can bind one copper ion per monomer (PubMed:17309234). May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141).

Gene Wiki entry for COMMD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMMD1 Gene

Genomics for COMMD1 Gene

Regulatory Elements for COMMD1 Gene

Enhancers for COMMD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G062409 1.2 Ensembl ENCODE 10.9 +522.5 522485 3.2 HDGF PKNOX1 WRNIP1 FEZF1 ZNF2 ZNF48 FOS ZNF263 SP5 REST COMMD1 CCT4 TMEM17 GC02M062385 ENSG00000228541
GH02G061424 1.3 FANTOM5 Ensembl ENCODE 9.7 -462.9 -462901 2.3 CTCF SAP130 ARID4B ZNF384 ZNF48 RAD21 CHAMP1 GATAD1 ZNF143 ZNF207 AHSA2 LOC339803 USP34 COMMD1 CCT4 SNORA70B
GH02G061949 1.1 Ensembl ENCODE 11.2 +61.6 61577 1.0 HDAC1 PKNOX1 TCF12 GATA2 SMARCA5 CEBPB ZNF592 SMARCA4 GLIS1 HMBOX1 COMMD1 CCT4 ENSG00000278523 GC02P062000
GH02G062038 1.2 Ensembl ENCODE 10.1 +151.0 150997 1.7 HDAC1 TBL1XR1 WRNIP1 BMI1 RAD21 ZNF766 CBX5 ZNF143 ZNF207 RELB B3GNT2 COMMD1 CCT4 GC02P062003 RPSAP26
GH02G062473 1.3 Ensembl ENCODE 9.3 +587.5 587451 5.4 HDGF FOXA2 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 TMEM17 RPL37P13 ENSG00000226622 EHBP1 COMMD1 CCT4 ENSG00000228541 GC02P062494
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COMMD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COMMD1 Gene

Chromosome:
2
Start:
61,888,724 bp from pter
End:
62,147,247 bp from pter
Size:
258,524 bases
Orientation:
Plus strand

Genomic View for COMMD1 Gene

Genes around COMMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD1 Gene

Proteins for COMMD1 Gene

  • Protein details for COMMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N668-COMD1_HUMAN
    Recommended name:
    COMM domain-containing protein 1
    Protein Accession:
    Q8N668
    Secondary Accessions:
    • B4DFQ4
    • Q96GS0

    Protein attributes for COMMD1 Gene

    Size:
    190 amino acids
    Molecular mass:
    21178 Da
    Quaternary structure:
    • Monomer, homodimer. Can form heterodimers with other COMM domain-containing proteins but only certain combinations may exist in vivo (PubMed:23563313). Interacts (via COMM domain) with COMMD2, COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8 and COMMD10 (via COMM domain). Identified in a complex with an E3 ubiquitin ligase complex composed of TCEB1/elongin C, CUL2, SOCS1 and RBX1; in the complex interacts directly with SOCS1 and CUL2. Interacts directly with ATP7B (via the N-terminal region). Interacts with CCS, CDKN2A, RELA, REL, RELB, NFKB1/p105, NFKB2/p100, NFKBIB, SCNN1D, SCNN1B, CFTR, CLU, SGK1, AKT1, CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5, CUL7, HIF1A. Identified in a complex with NF-kappa-B. Interacts directly with SLC12A2. Interacts with CCDC22, CCDC93 and C16orf62; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22, CCDC93 and C16orf62 (PubMed:25355947). Interacts with ATP7A (PubMed:21667063).

    Three dimensional structures from OCA and Proteopedia for COMMD1 Gene

    Alternative splice isoforms for COMMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMMD1 Gene

Post-translational modifications for COMMD1 Gene

  • Acetylated by EP300 ina stimuli-specific manner; protecting it from XIAP-mediated proteasomal degradation and required for interaction with RElA in response to stress.
  • Ubiquitinated; undergoes both Lys-63- and Lys-48-linked polyubiquitination. Ubiquitinated by XIAP, leading to its proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COMMD1 Gene

Domains & Families for COMMD1 Gene

Gene Families for COMMD1 Gene

Protein Domains for COMMD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COMMD1: view

No data available for UniProtKB/Swiss-Prot for COMMD1 Gene

Function for COMMD1 Gene

Molecular function for COMMD1 Gene

UniProtKB/Swiss-Prot Function:
Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074). Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370). Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833). Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). Can bind one copper ion per monomer (PubMed:17309234). May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141).

Gene Ontology (GO) - Molecular Function for COMMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IDA 17309234
GO:0005515 protein binding IPI 14645214
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 18940794
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 18940794
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with COMMD1: view
genes like me logo Genes that share phenotypes with COMMD1: view

Animal Models for COMMD1 Gene

MGI Knock Outs for COMMD1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for COMMD1 Gene

Localization for COMMD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD1 Gene

Nucleus. Cytoplasm. Endosome membrane. Cytoplasmic vesicle. Early endosome. Recycling endosome. Note=Shuttles between nucleus and cytosol. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COMMD1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endosome 5
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COMMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15799966
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IDA,IEA 14685266
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 25355947
genes like me logo Genes that share ontologies with COMMD1: view

Pathways & Interactions for COMMD1 Gene

genes like me logo Genes that share pathways with COMMD1: view

Pathways by source for COMMD1 Gene

Gene Ontology (GO) - Biological Process for COMMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0006893 Golgi to plasma membrane transport IMP 25355947
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COMMD1: view

No data available for SIGNOR curated interactions for COMMD1 Gene

Drugs & Compounds for COMMD1 Gene

(1) Drugs for COMMD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 181
genes like me logo Genes that share compounds with COMMD1: view

Transcripts for COMMD1 Gene

Unigene Clusters for COMMD1 Gene

Copper metabolism (Murr1) domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for COMMD1 Gene

GeneLoc Exon Structure for
COMMD1
ECgene alternative splicing isoforms for
COMMD1

Expression for COMMD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COMMD1 Gene

Protein differential expression in normal tissues from HIPED for COMMD1 Gene

This gene is overexpressed in Monocytes (12.9) and Heart (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMMD1 Gene



Protein tissue co-expression partners for COMMD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COMMD1 Gene:

COMMD1

SOURCE GeneReport for Unigene cluster for COMMD1 Gene:

Hs.468702

mRNA Expression by UniProt/SwissProt for COMMD1 Gene:

Q8N668-COMD1_HUMAN
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.

Evidence on tissue expression from TISSUES for COMMD1 Gene

  • Nervous system(4.4)
  • Kidney(4.3)
  • Skin(4.3)
  • Liver(2.7)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with COMMD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COMMD1 Gene

Orthologs for COMMD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COMMD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD1 34 35
  • 99.3 (n)
mouse
(Mus musculus)
Mammalia RP23-242C19.7 35
  • 89 (a)
OneToMany
Commd1 34 16 35
  • 85.87 (n)
dog
(Canis familiaris)
Mammalia COMMD1 34 35
  • 88.71 (n)
cow
(Bos Taurus)
Mammalia COMMD1 34 35
  • 88.53 (n)
rat
(Rattus norvegicus)
Mammalia Commd1 34
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia COMMD1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD1 34 35
  • 72.61 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd1 34
  • 65.93 (n)
Str.20197 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10925 34
zebrafish
(Danio rerio)
Actinopterygii commd1 34 35
  • 57.92 (n)
Species where no ortholog for COMMD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COMMD1 Gene

ENSEMBL:
Gene Tree for COMMD1 (if available)
TreeFam:
Gene Tree for COMMD1 (if available)

Paralogs for COMMD1 Gene

(2) SIMAP similar genes for COMMD1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with COMMD1: view

No data available for Paralogs for COMMD1 Gene

Variants for COMMD1 Gene

Sequence variations from dbSNP and Humsavar for COMMD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000001739 -- 62,038,605(+) TACAG(C/T)GGCAC intron-variant
rs1000009246 -- 62,129,930(+) CAGCA(C/T)TTTGG intron-variant
rs1000060279 -- 62,036,925(+) TGTAG(A/G)TGAGT intron-variant
rs1000067766 -- 62,046,800(+) CTCTC(C/T)GCAAT intron-variant
rs1000080777 -- 61,913,573(+) TAAAA(A/G)TTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COMMD1 Gene

Variant ID Type Subtype PubMed ID
esv2665284 CNV deletion 23128226
esv2670023 CNV deletion 23128226
esv2763188 CNV loss 21179565
esv3343157 CNV duplication 20981092
esv3385104 CNV insertion 20981092
esv34000 CNV loss 18971310
esv3583850 CNV loss 25503493
esv3591029 CNV loss 21293372
esv3591031 CNV loss 21293372
esv3591032 CNV gain 21293372
esv3591033 CNV loss 21293372
esv3591034 CNV loss 21293372
nsv1003647 CNV gain 25217958
nsv1003959 CNV loss 25217958
nsv1009446 CNV gain 25217958
nsv1010519 CNV loss 25217958
nsv1109257 CNV deletion 24896259
nsv1134867 CNV deletion 24896259
nsv458074 CNV gain 19166990
nsv470467 CNV gain 18288195
nsv519398 CNV loss 19592680
nsv582118 CNV gain 21841781
nsv582122 CNV gain 21841781
nsv582123 CNV gain 21841781
nsv582124 CNV loss 21841781
nsv582125 CNV loss 21841781
nsv7313 OTHER inversion 18451855
nsv961410 CNV duplication 23825009

Variation tolerance for COMMD1 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMMD1 Gene

Human Gene Mutation Database (HGMD)
COMMD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD1 Gene

Disorders for COMMD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COMMD1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • cerebral pseudosclerosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COMMD1

Genetic Association Database (GAD)
COMMD1
Human Genome Epidemiology (HuGE) Navigator
COMMD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD1
genes like me logo Genes that share disorders with COMMD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COMMD1 Gene

Publications for COMMD1 Gene

  1. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. (PMID: 11809725) van De Sluis B.A.J. … Wijmenga C. (Hum. Mol. Genet. 2002) 2 3 4 22 64
  2. Characterization and copper binding properties of human COMMD1 (MURR1). (PMID: 17309234) Narindrasorasak S. … Sarkar B. (Biochemistry 2007) 3 4 22 64
  3. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. (PMID: 17919502) de Bie P. … Klomp L.W. (Gastroenterology 2007) 3 4 22 64
  4. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. (PMID: 16649058) Wu Z.Y. … Yu L. (J. Mol. Med. 2006) 3 22 46 64
  5. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. (PMID: 15205742) Stuehler B. … Schaefer M. (J. Mol. Med. 2004) 3 4 22 64

Products for COMMD1 Gene

Sources for COMMD1 Gene

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