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Aliases for GATD3A Gene

Aliases for GATD3A Gene

  • Glutamine Amidotransferase Like Class 1 Domain Containing 3A 2 3
  • Chromosome 21 Open Reading Frame 33 2 5
  • C21orf33 3 5
  • HES1 3 4
  • KNPI 3 4
  • Human HES1 Protein, Homolog To E.Coli And Zebrafish ES1 Protein 3
  • Testis Secretory Sperm-Binding Protein Li 237E 3
  • ES1 Protein Homolog, Mitochondrial 3
  • Keio Novel Protein I 3
  • ES1 Protein Homolog 2
  • Protein GT335 4
  • Protein KNP-I 4
  • GATD3 3
  • GT335 3
  • KNPH 3
  • ES1 3

External Ids for GATD3A Gene

Previous HGNC Symbols for GATD3A Gene

  • C21orf33

Summaries for GATD3A Gene

Entrez Gene Summary for GATD3A Gene

  • This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for GATD3A Gene

GATD3A (Glutamine Amidotransferase Like Class 1 Domain Containing 3A) is a Protein Coding gene. Diseases associated with GATD3A include Down Syndrome. Among its related pathways are Gastric Cancer Network 1. An important paralog of this gene is GATD3B.

Gene Wiki entry for GATD3A Gene

Additional gene information for GATD3A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATD3A Gene

Genomics for GATD3A Gene

GeneHancer (GH) Regulatory Elements for GATD3A Gene

Promoters and enhancers for GATD3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J044132 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.4 442 3.4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 GATD3A GC21M044132 PWP2 ENSG00000184441 RRP1B HSF2BP TRAPPC10 TRPM2 LINC02575 PIR40864
GH21J044080 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.5 -47.6 -47633 10.9 CLOCK MAX SIN3A ZNF507 RELA IRF9 CTBP1 GATA3 POLR2A EGR1 PWP2 TRAPPC10 GATD3A PFKL PIR47770 H2AFZP1
GH21J044205 Enhancer 1.4 Ensembl ENCODE dbSUPER 12 +73.5 73501 3.4 HDGF PKNOX1 ATF1 ZBTB7B IRF4 TCF12 ATF7 FOS RUNX3 ZNF592 LOC102725065 LOC105372832 GATD3A ICOSLG AIRE LOC105377139
GH21J044217 Enhancer 1 ENCODE dbSUPER 11.3 +85.0 84975 1.2 HDAC1 PKNOX1 ATF1 GLI4 ZNF766 ETV6 IKZF2 RUNX3 CREM SMARCA5 GATD3A PWP2 ICOSLG LOC105372832 PIR49071
GH21J044210 Enhancer 0.9 dbSUPER 12 +78.5 78473 2.5 HDGF PKNOX1 NEUROD1 YBX1 ZNF48 ZBTB7B ZNF207 ZFP91 ATF7 RUNX3 UBE2G2 ENSG00000184441 SIK1 GATD3A TRPM2 PWP2 RRP1B MTND5P1 ICOSLG AIRE
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATD3A on UCSC Golden Path with GeneCards custom track

Genomic Locations for GATD3A Gene

Genomic Locations for GATD3A Gene
chr21:44,133,605-44,210,114
(GRCh38/hg38)
Size:
76,510 bases
Orientation:
Plus strand
chr21:45,553,487-45,565,605
(GRCh37/hg19)
Size:
12,119 bases
Orientation:
Plus strand

Genomic View for GATD3A Gene

Genes around GATD3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATD3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATD3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATD3A Gene

Proteins for GATD3A Gene

  • Protein details for GATD3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30042-ES1_HUMAN
    Recommended name:
    ES1 protein homolog, mitochondrial
    Protein Accession:
    P30042
    Secondary Accessions:
    • A6NFJ6
    • A6NJY7
    • O00650
    • O00660
    • O15011
    • O15012
    • P55346
    • P78474
    • Q92505
    • Q92507

    Protein attributes for GATD3A Gene

    Size:
    268 amino acids
    Molecular mass:
    28170 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GATD3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATD3A Gene

Post-translational modifications for GATD3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GATD3A Gene

Domains & Families for GATD3A Gene

Gene Families for GATD3A Gene

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

Protein Domains for GATD3A Gene

Suggested Antigen Peptide Sequences for GATD3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30042

UniProtKB/Swiss-Prot:

ES1_HUMAN :
  • Belongs to the ES1 family.
Family:
  • Belongs to the ES1 family.
genes like me logo Genes that share domains with GATD3A: view

Function for GATD3A Gene

Phenotypes From GWAS Catalog for GATD3A Gene

genes like me logo Genes that share phenotypes with GATD3A: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GATD3A Gene

Localization for GATD3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATD3A Gene

Mitochondrion.

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 GATD3A gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GATD3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with GATD3A: view

Pathways & Interactions for GATD3A Gene

SuperPathways for GATD3A Gene

SuperPathway Contained pathways
1 Gastric Cancer Network 1
genes like me logo Genes that share pathways with GATD3A: view

Pathways by source for GATD3A Gene

1 BioSystems pathway for GATD3A Gene

Interacting Proteins for GATD3A Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000291577%0d%0a9606.ENSP00000356988%0d%0a9606.ENSP00000295908%0d%0a9606.ENSP00000370377%0d%0a9606.ENSP00000362987%0d%0a9606.ENSP00000225698%0d%0a
Selected Interacting proteins: P30042-ES1_HUMAN ENSP00000291577 for GATD3A Gene via IID STRING

Gene Ontology (GO) - Biological Process for GATD3A Gene

None

No data available for SIGNOR curated interactions for GATD3A Gene

Drugs & Compounds for GATD3A Gene

(1) Drugs for GATD3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GATD3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATD3A: view

Transcripts for GATD3A Gene

mRNA/cDNA for GATD3A Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GATD3A Gene

No ASD Table

Relevant External Links for GATD3A Gene

GeneLoc Exon Structure for
GATD3A
ECgene alternative splicing isoforms for
GATD3A

Expression for GATD3A Gene

NURSA nuclear receptor signaling pathways regulating expression of GATD3A Gene:

GATD3A

mRNA Expression by UniProt/SwissProt for GATD3A Gene:

P30042-ES1_HUMAN
Tissue specificity: Ubiquitous, but strongly expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for GATD3A Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Liver(4.3)
  • Skin(2.7)
  • Muscle(2.6)
  • Heart(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GATD3A Gene

Orthologs for GATD3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for GATD3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf33 33
  • 99.25 (n)
C21orf33 34
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf33 33
  • 84.4 (n)
mouse
(Mus musculus)
Mammalia D10Jhu81e 34 33
  • 83.08 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1303003 33
  • 82.83 (n)
cow
(Bos Taurus)
Mammalia C1H21orf33 33
  • 82.12 (n)
ES1 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf33 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C21orf33 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H21ORF33 34 33
  • 73.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C21orf33 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf33 33
  • 69.66 (n)
Str.15323 33
zebrafish
(Danio rerio)
Actinopterygii C9H21orf33 34
  • 74 (a)
OneToOne
zgc:112056 33
  • 73.14 (n)
Dr.11237 33
Species where no ortholog for GATD3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 GATD3A Gene

ENSEMBL:
Gene Tree for GATD3A (if available)
TreeFam:
Gene Tree for GATD3A (if available)

Paralogs for GATD3A Gene

Paralogs for GATD3A Gene

Pseudogenes.org Pseudogenes for GATD3A Gene

genes like me logo Genes that share paralogs with GATD3A: view

Variants for GATD3A Gene

Sequence variations from dbSNP and Humsavar for GATD3A Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000154936 -- 44,146,111(+) A/G downstream_transcript_variant
rs1000691184 -- 44,133,742(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1001011303 -- 44,142,496(+) G/A genic_downstream_transcript_variant, intron_variant
rs1001294632 -- 44,132,038(+) G/T upstream_transcript_variant
rs1001325828 -- 44,131,751(+) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GATD3A Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV loss 17666407
esv3647118 CNV loss 21293372
nsv587721 CNV loss 21841781
nsv587722 CNV loss 21841781
nsv953644 CNV deletion 24416366

Variation tolerance for GATD3A Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GATD3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATD3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATD3A Gene

Disorders for GATD3A Gene

MalaCards: The human disease database

(1) MalaCards diseases for GATD3A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GATD3A

genes like me logo Genes that share disorders with GATD3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GATD3A Gene

Publications for GATD3A Gene

  1. Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. (PMID: 9150728) Scott HS … Antonarakis SE (Human genetics 1997) 2 3 4 22 58
  2. Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. (PMID: 8975701) Lafrenière RG … Rouleau GA (Genomics 1996) 2 3 4 58
  3. ES1 is a mitochondrial enlarging factor contributing to form mega-mitochondria in zebrafish cones. (PMID: 26926452) Masuda T … Kawamura S (Scientific reports 2016) 2 3 58
  4. Proteomics of bovine mitochondrial RNA-binding proteins: HES1/KNP-I is a new mitochondrial resident protein. (PMID: 15707356) Ponamarev MV … Robinson BH (Journal of proteome research 2005) 2 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GATD3A Gene

Sources for GATD3A Gene

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