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GATD3 glutamine amidotransferase class 1 domain containing 3 [ Homo sapiens (human) ]

Gene ID: 8209, updated on 4-Jul-2021

Summary

Official Symbol
GATD3provided by HGNC
Official Full Name
glutamine amidotransferase class 1 domain containing 3provided by HGNC
Primary source
HGNC:HGNC:1273
See related
Ensembl:ENSG00000160221 MIM:601659
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ES1; HES1; KNPH; KNPI; GT335; GATD3A; C21orf33
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 72.1), heart (RPKM 46.8) and 25 other tissues See more
Orthologs
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Genomic context

See GATD3 in Genome Data Viewer
Location:
21q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44133665..44145711)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45553565..45565593)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 10 Neighboring gene H2A.Z histone pseudogene 1 Neighboring gene PWP2 small subunit processome component Neighboring gene long intergenic non-protein coding RNA 1678 Neighboring gene uncharacterized LOC105377139

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: CN120488 GeneReviews: Not available
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GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial
Names
ES1 protein homolog, mitochondrial
Keio novel protein I
glutamine amidotransferase class 1 domain containing 3A
glutamine amidotransferase like class 1 domain containing 3A
human HES1 protein, homolog to E.coli and zebrafish ES1 protein
testis secretory sperm-binding protein Li 237E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021281.3 RefSeqGene

    Range
    5071..17099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320383.2NP_001307312.1  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    BP283346, BQ011869, BQ647697
    Related
    ENSP00000374340.3, ENST00000389690.7
    Conserved Domains (2) summary
    COG0693
    Location:51173
    ThiJ; Putative intracellular protease/amidase [General function prediction only]
    cl00020
    Location:45174
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain
  2. NM_001320384.2NP_001307313.1  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AW292582, BI196781, BP283346, BQ011869
    Consensus CDS
    CCDS82680.1
    UniProtKB/TrEMBL
    F2Z2Q0
    Related
    ENSP00000396655.2, ENST00000427803.6
    Conserved Domains (2) summary
    COG0693
    Location:51183
    ThiJ; Putative intracellular protease/amidase [General function prediction only]
    cl00020
    Location:45174
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain
  3. NM_004649.8NP_004640.4  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AB001517, AP001055
    Consensus CDS
    CCDS33580.1
    UniProtKB/Swiss-Prot
    P30042
    UniProtKB/TrEMBL
    A0A140VKB0
    Related
    ENSP00000291577.6, ENST00000291577.11
    Conserved Domains (1) summary
    cd03133
    Location:45266
    GATase1_ES1; Type 1 glutamine amidotransferase (GATase1)-like domain found in zebrafish ES1
  4. NM_198155.5NP_937798.4  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AB001517, AP001055
    Consensus CDS
    CCDS33581.1
    UniProtKB/Swiss-Prot
    P30042
    Related
    ENSP00000344901.5, ENST00000348499.9
    Conserved Domains (1) summary
    cl00020
    Location:45235
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

RNA

  1. NR_135220.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB001517, AP001055

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    44133665..44145711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452133.1XP_024307901.1  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl00020
    Location:54218
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain
  2. XM_017028479.1XP_016883968.1  glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A096LNH5
    Related
    ENSP00000405713.1, ENST00000419699.1
    Conserved Domains (1) summary
    cl00020
    Location:1180
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain
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