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

Gene ID: 8209, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:1273
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

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See GATD3 in Genome Data Viewer
Location:
21q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44133683..44145711)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42486669..42501326)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 18562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45487136-45487678 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45526826-45527342 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45530994-45531196 Neighboring gene Sharpr-MPRA regulatory region 9823 Neighboring gene PWP2 small subunit processome component Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553065-45553592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553593-45554120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45554121-45554648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13210 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45561103-45561261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45566085-45566744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18265 Neighboring gene uncharacterized LOC124905035 Neighboring gene long intergenic non-protein coding RNA 1678

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Cleavage-site motifs in mitochondrial targeting peptides. Gavel Y, et al. Protein Eng, 1990 Oct. PMID 2290832
  2. Proteomics of bovine mitochondrial RNA-binding proteins: HES1/KNP-I is a new mitochondrial resident protein. Ponamarev MV, et al. J Proteome Res, 2005 Jan-Feb. PMID 15707356
  3. Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3. Kudoh J, et al. DNA Res, 1997 Feb 28. PMID 9179495
  4. Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. Scott HS, et al. Hum Genet, 1997 May. PMID 9150728
  5. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. Nagamine K, et al. Genomics, 1997 Jun 15. PMID 9205129

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. ES1 protein expression was two-fold elevated (P < 0.01) in fetal Down syndrome brain compared to controls and may be a candidate protein involved in the pathogenesis of the brain deficit in DS.
    Title: Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: C5680330 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
glutamine amidotransferase-like class 1 domain-containing protein 3, 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
glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial
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_001320383.2 → NP_001307312.1  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    BP283346, BQ011869, BQ647697
    UniProtKB/TrEMBL
    A0A096LP12, H7BYH1
    Related
    ENSP00000374340.3, ENST00000389690.7
    Conserved Domains (2) summary
    COG0693
    Location:51 → 173
    ThiJ; Putative intracellular protease/amidase [General function prediction only]
    cl00020
    Location:45 → 174
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

  2. NM_001320384.2 → NP_001307313.1  glutamine amidotransferase-like class 1 domain-containing protein 3, 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:51 → 183
    ThiJ; Putative intracellular protease/amidase [General function prediction only]
    cl00020
    Location:45 → 174
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

  3. NM_004649.8 → NP_004640.4  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AB001517, AP001055
    Consensus CDS
    CCDS33580.1
    UniProtKB/Swiss-Prot
    A6NFJ6, A6NJY7, O00650, O00660, O15011, O15012, P0DPI2, P30042, P55346, P78474, Q92505, Q92507
    UniProtKB/TrEMBL
    A0A140VKB0
    Related
    ENSP00000291577.6, ENST00000291577.11
    Conserved Domains (1) summary
    cd03133
    Location:45 → 266
    GATase1_ES1; Type 1 glutamine amidotransferase (GATase1)-like domain found in zebrafish ES1

  4. NM_198155.5 → NP_937798.4  glutamine amidotransferase-like class 1 domain-containing protein 3, 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:45 → 235
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44133683..44145711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028479.2 → XP_016883968.1  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H7C2G3
    Related
    ENSP00000405713.1, ENST00000419699.1
    Conserved Domains (1) summary
    cl00020
    Location:1 → 180
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42486669..42501326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324879.1 → XP_054180854.1  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform X2

  2. XM_054324877.1 → XP_054180852.1  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform X1

  3. XM_054324878.1 → XP_054180853.1  glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DPI2.1 GenPept UniProtKB/Swiss-Prot:P0DPI2

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