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Aliases for COMMD1 Gene

Aliases for COMMD1 Gene

  • Copper Metabolism (Murr1) Domain Containing 1 2 3
  • MURR1 3 4 6
  • Copper Metabolism Gene MURR1 2 3
  • Protein Murr1 3 4
  • C2orf5 3 4
  • Chromosome 2 Open Reading Frame 5 (MURR1) 2
  • COMM Domain-Containing Protein 1 3

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 (Murr1) Domain Containing 1) is a Protein Coding gene. Diseases associated with COMMD1 include wilson disease. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and TNF-alpha/NF-kB Signaling Pathway. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMMD1 Gene

Genomics for COMMD1 Gene

Regulatory Elements for COMMD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COMMD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

    Three dimensional structures from OCA and Proteopedia for COMMD1 Gene

    Alternative splice isoforms for COMMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMMD1 Gene

Proteomics data for COMMD1 Gene at MOPED

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

Other Protein References for COMMD1 Gene

Antibody Products

No data available for DME Specific Peptides for COMMD1 Gene

Domains 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

Q8N668

UniProtKB/Swiss-Prot:

COMD1_HUMAN :
  • Q8N668
Domain:
  • Contains 1 COMM domain.
genes like me logo Genes that share domains with COMMD1: view

No data available for Gene Families 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:0042802 identical protein binding IPI 15799966
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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COMMD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for COMMD1 Gene COMPARTMENTS Subcellular localization image for COMMD1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
endosome 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for COMMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15799966
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IDA 25355947
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with COMMD1: view

Pathways for COMMD1 Gene

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

Gene Ontology (GO) - Biological Process for COMMD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006893 Golgi to plasma membrane transport IMP 25355947
GO:0015031 protein transport IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 17183367
GO:0032088 negative regulation of NF-kappaB transcription factor activity IMP 17183367
genes like me logo Genes that share ontologies with COMMD1: view

Compounds for COMMD1 Gene

(1) HMDB Compounds for COMMD1 Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8

(1) Novoseek inferred chemical compound relationships for COMMD1 Gene

Compound -log(P) Hits PubMed IDs
copper 71.4 33
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COMMD1

Primer Products

Flow Cytometry 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 for COMMD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COMMD1 Gene

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.
genes like me logo Genes that share expressions with COMMD1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.3 (n)
  • 98.95 (a)
COMMD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COMMD1 35
  • 88.53 (n)
  • 88.17 (a)
COMMD1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COMMD1 35
  • 88.71 (n)
  • 88.71 (a)
COMMD1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Commd1 35
  • 85.87 (n)
  • 86.41 (a)
Commd1 16
Commd1 36
  • 85 (a)
OneToMany
RP23-242C19.7 36
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia COMMD1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Commd1 35
  • 83.88 (n)
  • 85.87 (a)
chicken
(Gallus gallus)
Aves COMMD1 35
  • 72.61 (n)
  • 71.35 (a)
COMMD1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COMMD1 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10925 35
tropical clawed frog
(Silurana tropicalis)
Amphibia commd1 35
  • 65.93 (n)
  • 59.89 (a)
Str.20197 35
zebrafish
(Danio rerio)
Actinopterygii commd1 35
  • 57.92 (n)
  • 50.82 (a)
commd1 36
  • 49 (a)
OneToOne
Species with no ortholog for COMMD1:
  • 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

Selected 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 MAF
rs8828 -- 62,136,029(-) AATGC(A/G)GGCAC utr-variant-3-prime
rs9096 -- 62,135,860(-) ACCTC(A/G)TCAAA synonymous-codon, reference
rs1375851 -- 62,073,417(-) gctta(A/G)gtgaa intron-variant
rs1375852 -- 62,073,306(-) taaag(G/T)catca intron-variant
rs1449945 -- 62,044,309(-) TGTTA(C/T)GAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv874229 CNV Gain 21882294
esv34000 CNV Loss 18971310
nsv458074 CNV Gain 19166990
nsv470467 CNV Gain 18288195
esv267460 CNV Insertion 20981092
nsv874231 CNV Gain 21882294
nsv519398 CNV Loss 19592680
esv2670023 CNV Deletion 23128226
esv2665284 CNV Deletion 23128226

Relevant External Links for COMMD1 Gene

HapMap Linkage Disequilibrium report
COMMD1
Human Gene Mutation Database (HGMD)
COMMD1

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

Disorders for COMMD1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for COMMD1 Gene including...

Search for COMMD1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for COMMD1 Gene

(2) Novoseek inferred disease relationships for COMMD1 Gene

Disease -log(P) Hits PubMed IDs
wilson disease 83.9 14
cirrhosis 25.7 1

Relevant External Links for COMMD1

Genetic Association Database (GAD)
COMMD1
Human Genome Epidemiology (HuGE) Navigator
COMMD1
genes like me logo Genes that share disorders with COMMD1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. (PMID: 12547404) Mueller T. … Wijmenga C. (J. Hepatol. 2003) 3 4 23
  3. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. (PMID: 12968035) Tao T.Y. … Gitlin J.D. (J. Biol. Chem. 2003) 3 4 23
  4. 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 23
  5. 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 23 48

Products for COMMD1 Gene

Sources for COMMD1 Gene

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