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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. Among its related pathways are Innate 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).

Additional gene information for COMMD3 Gene

No data available for Entrez Gene Summary , CIViC 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
GH10H022228 1.7 FANTOM5 Ensembl ENCODE 11.7 -86.3 -86280 3 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZFP41 MEF2D ZNF610 ZNF585B MLLT10 BMI1 COMMD3 DNAJC1 EBLN1 TRN-GTT2-3 LOC105376446
GH10H022433 1.6 FANTOM5 Ensembl ENCODE 11.5 +120.3 120251 5 HDGF ATF1 SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 FOS ATF7 MLLT10 BMI1 COMMD3 CASC10 MIR1915 HNRNPRP1 DNAJC1 LOC100499489 GC10P022433
GH10H022250 1.5 FANTOM5 ENCODE dbSUPER 12.2 -62.8 -62846 4 ZFP64 ZNF2 ZBTB7B YY1 GLIS2 RUNX3 ZNF202 YY2 ZC3H11A ZNF623 MLLT10 BMI1 ENSG00000261671 COMMD3 HNRNPRP1 CASC10 MIR1915 DNAJC1 LOC100130992 ENSG00000279631
GH10H022245 1.5 Ensembl ENCODE dbSUPER 10.7 -69.0 -69018 2 ATF1 SIN3A FOS SP3 ZNF518A ZNF592 MEF2D SREBF1 MAFF NR2C1 ENSG00000261671 COMMD3 BMI1 LOC105376446 LOC100130992 ENSG00000279631
GH10H022815 1.3 Ensembl ENCODE 10.2 +501.0 500981 2 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF121 ZNF766 ELK1 FOS ATF7 RPL31P45 RNU6-413P ENSG00000260205 COMMD3 GC10P022788 LOC105376451
- 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
ENSR00000025448 626 2001 HDGF PKNOX1 FOXA2 ARNT 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 posLast=99, posLast=5252, posLast=6060, Lys108, and Lys137
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for COMMD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD3 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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

CRISPR Products

miRNA for COMMD3 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COMMD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0005576 extracellular region TAS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:1904813 ficolin-1-rich granule lumen TAS --
genes like me logo Genes that share ontologies with COMMD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COMMD3 Gene

Pathways & Interactions for COMMD3 Gene

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

Pathways by source for COMMD3 Gene

3 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

Drugs & Compounds for COMMD3 Gene

No Compound Related Data Available

Transcripts for COMMD3 Gene

Unigene Clusters for COMMD3 Gene

COMM domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COMMD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for COMMD3 Gene

  • Blood(4.4)
  • Lymph node(4.3)
  • Muscle(4.3)
  • Spleen(4.3)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with COMMD3: 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 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 33 34
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia COMMD3 33 34
  • 94.7 (n)
cow
(Bos Taurus)
Mammalia COMMD3 33 34
  • 94.19 (n)
mouse
(Mus musculus)
Mammalia Commd3 33 16 34
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Commd3 33
  • 91.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD3 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COMMD3 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD3 33 34
  • 64.17 (n)
lizard
(Anolis carolinensis)
Reptilia COMMD3 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd3 33
  • 69.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia xbmi-1 33
zebrafish
(Danio rerio)
Actinopterygii commd3 33 34
  • 59.51 (n)
bmi1 33
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
rs1000809035 -- 22,316,383(+) GTCAC(G/T)TGGTG utr-variant-5-prime
rs1000814650 -- 22,319,566(+) TGAAA(A/C/T)TGAAT intron-variant, upstream-variant-2KB
rs1001331160 -- 22,315,745(+) AGTGC(A/G)GTGCA upstream-variant-2KB
rs1001679281 -- 22,316,064(+) CCGTC(C/T)GCAGT upstream-variant-2KB
rs1002276831 -- 22,314,658(+) ACAAC(C/T)ACTTG 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

Relevant External Links for COMMD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMMD3

No disorders were found for COMMD3 Gene.

No data available for MalaCards , 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 CS (The Journal of biological chemistry 2005) 2 3 4 60
  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 QH … Chen Z (Genome research 2000) 2 3 4 60
  3. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 3 4 60
  4. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (PMID: 23563313) Starokadomskyy P … Burstein E (The Journal of clinical investigation 2013) 3 4 60
  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 (The Journal of biological chemistry 2011) 3 4 60

Products for COMMD3 Gene

Sources for COMMD3 Gene

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