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] See more...

Aliases for GATD3A Gene

Aliases for GATD3A Gene

  • Glutamine Amidotransferase Like Class 1 Domain Containing 3A 2 3 5
  • Glutamine Amidotransferase-Like Class 1 Domain-Containing Protein 3A, Mitochondrial 3 4
  • C21orf33 3 4
  • GT335 2 3
  • HES1 2 3
  • KNPH 2 3
  • KNPI 2 3
  • ES1 2 3
  • Human HES1 Protein, Homolog To E.Coli And Zebrafish ES1 Protein 3
  • Testis Secretory Sperm-Binding Protein Li 237E 3
  • Chromosome 21 Open Reading Frame 33 2
  • ES1 Protein Homolog, Mitochondrial 3
  • Keio Novel Protein I 3
  • ES1 Protein Homolog 2
  • D21S2048E 2
  • GATD3A 5
  • KNP-Ia 2
  • GATD3 3
  • KNP-I 2

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 Colobomatous Microphthalmia and 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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATD3A Gene

Genomics for GATD3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GATD3A 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 GATD3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATD3A

Genomic Locations for GATD3A Gene

Genomic Locations for GATD3A Gene
76,505 bases
Plus strand
12,119 bases
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:
    Recommended name:
    Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A6NFJ6
    • A6NJY7
    • O00650
    • O00660
    • O15011
    • O15012
    • P30042
    • P55346
    • P78474
    • Q92505
    • Q92507

    Protein attributes for GATD3A Gene

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

    Alternative splice isoforms for GATD3A Gene


neXtProt entry for GATD3A Gene

Post-translational modifications for GATD3A Gene

No Post-translational modifications

No data available for DME Specific Peptides for GATD3A Gene

Domains & Families for GATD3A Gene

Gene Families for GATD3A Gene

Protein Domains for GATD3A Gene


Suggested Antigen Peptide Sequences for GATD3A Gene

GenScript: Design optimal peptide antigens:
  • Protein KNP-I (ES1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GATD3 family.
  • Belongs to the GATD3 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

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

Localization for GATD3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATD3A Gene


Subcellular locations from

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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 IEA --
genes like me logo Genes that share ontologies with GATD3A: view

Pathways & Interactions for GATD3A Gene

PathCards logo

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

Gene Ontology (GO) - Biological Process for GATD3A Gene


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

10 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for GATD3A Gene

GeneLoc Exon Structure for

Expression for GATD3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATD3A

Evidence on tissue expression from TISSUES for GATD3A Gene

  • Nervous system(4)
  • Skin(3.5)
  • Lung(3)
  • Muscle(2.8)
  • Heart(2.5)
  • Kidney(2.5)
  • Liver(2.4)
  • Blood(2.2)
  • Intestine(2)
  • Eye(2)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia C21H21orf33 30
  • 99.25 (n)
C21orf33 31
  • 65 (a)
(Canis familiaris)
Mammalia C31H21orf33 30
  • 84.4 (n)
(Mus musculus)
Mammalia D10Jhu81e 30 31
  • 83.08 (n)
(Rattus norvegicus)
Mammalia RGD1303003 30
  • 82.83 (n)
(Bos Taurus)
Mammalia C1H21orf33 30
  • 82.12 (n)
ES1 31
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia C21orf33 31
  • 74 (a)
(Monodelphis domestica)
Mammalia C21orf33 31
  • 73 (a)
(Gallus gallus)
Aves C1H21ORF33 30 31
  • 73.86 (n)
(Anolis carolinensis)
Reptilia C21orf33 31
  • 76 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c21orf33 30
  • 69.66 (n)
Str.15323 30
(Danio rerio)
Actinopterygii C9H21orf33 31
  • 74 (a)
zgc:112056 30
  • 73.14 (n)
Dr.11237 30
Species where no ortholog for GATD3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for GATD3A (if available)
Gene Tree for GATD3A (if available)

Paralogs for GATD3A Gene

Paralogs for GATD3A Gene Pseudogenes for GATD3A Gene

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

Variants for GATD3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATD3A Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
769136 Benign: not provided 44,133,714(+) T/. NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION
775444 Benign: not provided 44,137,261(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs17264865 - p.Val148Met
rs2838497 - p.Leu248Val

Additional dbSNP identifiers (rs#s) for GATD3A Gene

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

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

Disorders for GATD3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
colobomatous microphthalmia
  • microphthalmia with colobomatous cyst
down syndrome
  • trisomy 21
granulomatous orchitis
  • non-specific granulomatous orchitis
coffin-siris syndrome 1
  • css1
endometrial stromal tumor
  • endometrial stromal neoplasm
- elite association - COSMIC cancer census association via MalaCards
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 23
  2. 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
  3. 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
  4. Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain. (PMID: 15082224) Shin JH … Lubec G (Neurochemistry international 2004) 3 23
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4

Products for GATD3A Gene

  • Signalway Proteins for GATD3A

Sources for GATD3A Gene