GATD3 (glutamine amidotransferase class 1 domain containing 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8209
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamine amidotransferase class 1 domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATD3
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf33, ES1, GATD3A, GATD3B, GT335, HES1, KNPH, KNPI
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez 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]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601659 1273 ENSG00000160221
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P0DPI2
Protein name Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial
Family and domains
Sequence 
MAAVRVLVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEI
HEASAILVHLSRGGAEVQIFAPDVPQMHVIDHTKGQPSEGESRNVLTESARIARGKITDL
ANLSAANHDAAIFPGGFGAAKNLSTFAVDGKDCKVNKEVERVLKEFHQAGKPIGLCCIAP
VLAAKVLRGVEVTVGHEQEEGGKWPYAGTAEAIKALGAKHCVKEVVEAHVDQKNKVVTTP
AFMCETALHYIHDGIGAMVRKVLELTGK
Sequence length 268
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS