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Aliases for COMMD3 Gene

Aliases for COMMD3 Gene

  • COMM Domain Containing 3 2 3 5
  • Protein Bup 3 4
  • C10orf8 3 4
  • BUP 3 4
  • Chromosome 10 Open Reading Frame 8 2
  • COMM Domain-Containing Protein 3 3
  • Protein PIL 4

External Ids for COMMD3 Gene

Previous HGNC Symbols for COMMD3 Gene

  • C10orf8

Previous GeneCards Identifiers for COMMD3 Gene

  • GC10P022610
  • GC10P022645
  • GC10P022604
  • GC10P022266

Summaries for COMMD3 Gene

GeneCards Summary for COMMD3 Gene

COMMD3 (COMM Domain Containing 3) is a Protein Coding gene. Diseases associated with COMMD3 include Tarsal Tunnel Syndrome and Tibial Neuropathy. Among its related pathways are Immune System.

UniProtKB/Swiss-Prot for COMMD3 Gene

  • May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMMD3 Gene

Genomics for COMMD3 Gene

Regulatory Elements for COMMD3 Gene

Enhancers for COMMD3 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
GH10F022228 1.7 FANTOM5 Ensembl ENCODE 11.7 -86.3 -86280 3.0 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 BMI1 COMMD3 DNAJC1 EBLN1 TRN-GTT2-3 LOC105376446
GH10F022433 1.6 FANTOM5 Ensembl ENCODE 11.5 +120.3 120327 5.8 PKNOX1 ATF1 SIN3A ZNF2 ZNF121 GLIS2 ZNF143 FOS ZNF202 ZNF263 BMI1 COMMD3 CASC10 MIR1915 HNRNPRP1 DNAJC1 GC10P022433 LOC100499489
GH10F022250 1.3 FANTOM5 ENCODE 12.2 -62.8 -62846 4.8 ZFP64 KLF17 PTRF BMI1 ZNF2 YY1 GLIS2 EGR1 ZNF366 CREM BMI1 ENSG00000261671 COMMD3 CASC10 MIR1915 DNAJC1 LOC100130992 ENSG00000279631
GH10F022245 1.2 Ensembl ENCODE 10.7 -69.0 -69018 2.2 ATF1 SIN3A FOS SP3 ZNF518A ZNF264 SREBF1 MEF2D PBX2 KDM1A COMMD3 BMI1 DNAJC1 LOC105376446 ENSG00000279631 LOC100130992
GH10F022596 1.8 FANTOM5 Ensembl ENCODE 4.9 +301.4 301404 42.3 CREB3L1 ZFP64 FEZF1 ZNF143 ZNF263 SP3 TBX21 MEF2D ZNF610 ZNF585B PIP4K2A RPL31P45 ENSG00000260205 ENSG00000261671 DNAJC1 OTUD1 BMI1 MSRB2 COMMD3 TRP-GGG1-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COMMD3 on UCSC Golden Path with GeneCards custom track

Promoters for COMMD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000351846 626 2801 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for COMMD3 Gene

Chromosome:
10
Start:
22,315,974 bp from pter
End:
22,320,317 bp from pter
Size:
4,344 bases
Orientation:
Plus strand

Genomic View for COMMD3 Gene

Genes around COMMD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMMD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMMD3 Gene

Proteins for COMMD3 Gene

  • Protein details for COMMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBI1-COMD3_HUMAN
    Recommended name:
    COMM domain-containing protein 3
    Protein Accession:
    Q9UBI1
    Secondary Accessions:
    • D3DRU7
    • Q5T8Y9

    Protein attributes for COMMD3 Gene

    Size:
    195 amino acids
    Molecular mass:
    22151 Da
    Quaternary structure:
    • Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with NFKB1/p105. Interacts with CCDC22, CCDC93, SCNN1B, CUL3, CUL4A, CUL4B, CUL5.

neXtProt entry for COMMD3 Gene

Post-translational modifications for COMMD3 Gene

  • Ubiquitination at Lys 9, Lys 52, Lys 60, Lys 108, and Lys 137
  • Modification sites at PhosphoSitePlus

Other Protein References for COMMD3 Gene

No data available for DME Specific Peptides for COMMD3 Gene

Domains & Families for COMMD3 Gene

Gene Families for COMMD3 Gene

Protein Domains for COMMD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBI1

UniProtKB/Swiss-Prot:

COMD3_HUMAN :
  • Contains 1 COMM domain.
Domain:
  • Contains 1 COMM domain.
genes like me logo Genes that share domains with COMMD3: view

Function for COMMD3 Gene

Molecular function for COMMD3 Gene

UniProtKB/Swiss-Prot Function:
May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203).

Gene Ontology (GO) - Molecular Function for COMMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15799966
genes like me logo Genes that share ontologies with COMMD3: view
genes like me logo Genes that share phenotypes with COMMD3: view

Animal Model Products

miRNA for COMMD3 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COMMD3 Gene

Localization for COMMD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMMD3 Gene

Cytoplasm. Nucleus.

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 COMMD3 gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 1

Gene Ontology (GO) - Cellular Components for COMMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with COMMD3: view

Pathways & Interactions for COMMD3 Gene

SuperPathways for COMMD3 Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with COMMD3: view

Pathways by source for COMMD3 Gene

2 Reactome pathways for COMMD3 Gene

Gene Ontology (GO) - Biological Process for COMMD3 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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with COMMD3: view

No data available for SIGNOR curated interactions for COMMD3 Gene

Transcripts for COMMD3 Gene

Unigene Clusters for COMMD3 Gene

COMM domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COMMD3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: -

Relevant External Links for COMMD3 Gene

GeneLoc Exon Structure for
COMMD3
ECgene alternative splicing isoforms for
COMMD3

Expression for COMMD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COMMD3 Gene

Protein differential expression in normal tissues from HIPED for COMMD3 Gene

This gene is overexpressed in Bone (12.0) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COMMD3 Gene



Protein tissue co-expression partners for COMMD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COMMD3 Gene:

COMMD3

SOURCE GeneReport for Unigene cluster for COMMD3 Gene:

Hs.534398

mRNA Expression by UniProt/SwissProt for COMMD3 Gene:

Q9UBI1-COMD3_HUMAN
Tissue specificity: Widely expressed with highest expression in thymus.
genes like me logo Genes that share expression patterns with COMMD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COMMD3 Gene

Orthologs for COMMD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COMMD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMMD3 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia COMMD3 34 35
  • 94.7 (n)
cow
(Bos Taurus)
Mammalia COMMD3 34 35
  • 94.19 (n)
mouse
(Mus musculus)
Mammalia Commd3 34 16 35
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Commd3 34
  • 91.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD3 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COMMD3 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD3 34 35
  • 64.17 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD3 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd3 34
  • 69.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia xbmi-1 34
zebrafish
(Danio rerio)
Actinopterygii commd3 34 35
  • 59.51 (n)
bmi1 34
Species where no ortholog for COMMD3 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 COMMD3 Gene

ENSEMBL:
Gene Tree for COMMD3 (if available)
TreeFam:
Gene Tree for COMMD3 (if available)

Paralogs for COMMD3 Gene

(7) SIMAP similar genes for COMMD3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with COMMD3: view

No data available for Paralogs for COMMD3 Gene

Variants for COMMD3 Gene

Sequence variations from dbSNP and Humsavar for COMMD3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10146 -- 22,320,008(-) GTTAA(A/C)TTCCC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs10828303 -- 22,314,652(+) AAATT(C/G)ACAAC upstream-variant-2KB
rs11012944 -- 22,316,241(+) TGGGA(C/G)GCCGT upstream-variant-2KB
rs11012945 -- 22,318,900(+) ATTTA(C/T)AATTT intron-variant
rs111274918 -- 22,316,011(+) GCGAG(A/G)AGCGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for COMMD3 Gene

Variant ID Type Subtype PubMed ID
dgv1002n54 CNV loss 21841781
dgv1003n54 CNV loss 21841781
dgv136n67 CNV gain 20364138
dgv137n67 CNV gain 20364138
esv27808 CNV gain 19812545
nsv550207 CNV loss 21841781

Variation tolerance for COMMD3 Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMMD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMMD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMMD3 Gene

Disorders for COMMD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COMMD3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tarsal tunnel syndrome
  • neuropathy of the posterior tibial nerve and its branches
tibial neuropathy
  • posterior tibial neuropathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COMMD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD3
genes like me logo Genes that share disorders with COMMD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COMMD3 Gene

Publications for COMMD3 Gene

  1. COMMD proteins, a novel family of structural and functional homologs of MURR1. (PMID: 15799966) Burstein E. … Duckett C.S. (J. Biol. Chem. 2005) 2 3 4 64
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  3. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak C.A. … Burstein E. (Mol. Biol. Cell 2015) 3 4 64
  4. CCDC22 deficiency in humans blunts activation of proinflammatory NF-I_B signaling. (PMID: 23563313) Starokadomskyy P. … Burstein E. (J. Clin. Invest. 2013) 3 4 64
  5. COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding. (PMID: 21778237) Mao X. … Burstein E. (J. Biol. Chem. 2011) 3 4 64

Products for COMMD3 Gene

Sources for COMMD3 Gene

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