Aliases for COMMD3 Gene

Aliases for COMMD3 Gene

  • COMM Domain Containing 3 2 3 5
  • COMM Domain-Containing Protein 3 3 4
  • Protein Bup 3 4
  • C10orf8 3 4
  • BUP 3 4
  • Chromosome 10 Open Reading Frame 8 2
  • 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 Summary 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 , Rfam classification and piRNA Summary for COMMD3 Gene

Genomics for COMMD3 Gene

GeneHancer (GH) Regulatory Elements for COMMD3 Gene

Promoters and enhancers for COMMD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COMMD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COMMD3 gene promoter:
  • FOXC1
  • HNF-1
  • HNF-1A
  • POU2F1
  • POU2F1a
  • YY1
  • Zic1

Genomic Locations for COMMD3 Gene

Genomic Locations for COMMD3 Gene
chr10:22,316,383-22,320,317
(GRCh38/hg38)
Size:
3,935 bases
Orientation:
Plus strand
chr10:22,604,903-22,609,246
(GRCh37/hg19)
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 Lys9, Lys52, Lys60, 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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COMMD3 Gene

GenScript: Design optimal peptide antigens:
  • Protein PIL (COMD3_HUMAN)
  • COMM domain containing 3 (Q5T8Y7_HUMAN)
  • COMM domain containing 3 (Q5T8Y8_HUMAN)
  • COMMD3 protein (Q6IB93_HUMAN)
genes like me logo Genes that share domains with COMMD3: view

No data available for Graphical View of Domain Structure and 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).

Phenotypes From GWAS Catalog for COMMD3 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COMMD3

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 3
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

PathCards logo

SuperPathways 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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0043312 neutrophil degranulation TAS --
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

mRNA/cDNA for COMMD3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COMMD3

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, 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

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 32
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COMMD3 33 32
  • 94.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COMMD3 33 32
  • 94.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Commd3 17 33 32
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Commd3 32
  • 91.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COMMD3 33
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COMMD3 33
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMMD3 33 32
  • 64.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COMMD3 33
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia commd3 32
  • 69.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia xbmi-1 32
zebrafish
(Danio rerio)
Actinopterygii commd3 33 32
  • 59.51 (n)
OneToOne
bmi1 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for COMMD3: view image

Paralogs for COMMD3 Gene

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

  • COMD3_HUMAN
  • H0Y4E5_HUMAN
  • H0Y4W0_HUMAN
  • H0Y6Z9_HUMAN
  • Q6IB93_HUMAN
  • R4GN06_HUMAN
  • R4GNF2_HUMAN
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 Variation AA Info Type
rs1000809035 -- 22,316,383(+) G/T upstream_transcript_variant
rs1000814650 -- 22,319,566(+) T/A/C intron_variant
rs1001331160 -- 22,315,745(+) A/G upstream_transcript_variant
rs1001679281 -- 22,316,064(+) C/T upstream_transcript_variant
rs1002276831 -- 22,314,658(+) C/T upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 56
  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 56
  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 56
  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 56
  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 56

Products for COMMD3 Gene

Sources for COMMD3 Gene