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GATD1 glutamine amidotransferase class 1 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 347862, updated on 27-Nov-2024

Summary

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Official Symbol
GATD1provided by HGNC
Official Full Name
glutamine amidotransferase class 1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26616
See related
Ensembl:ENSG00000177225 AllianceGenome:HGNC:26616
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Fy-5; PDDC1; FERRY5
Summary
Predicted to enable glyoxalase III activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 7.5), brain (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See GATD1 in Genome Data Viewer
Location:
11p15.5
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (767222..777487, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (818734..828922, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (767222..777487, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:742971-743670 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:743671-744369 Neighboring gene hESC enhancers GRCh37_chr11:746448-747096 and GRCh37_chr11:747097-747745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3025 Neighboring gene transaldolase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:765339-765752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3027 Neighboring gene uncharacterized LOC124900301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3028 Neighboring gene GATD1 divergent transcript Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783107-783794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:783795-784482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3029 Neighboring gene cell cycle exit and neuronal differentiation 1

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. The Rab5 effector FERRY links early endosomes with mRNA localization. Schuhmacher JS, et al. Mol Cell, 2023 Jun 1. PMID 37267905
  2. Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. Lou LQ, et al. J Mol Med (Berl), 2023 Mar. PMID 36629882
  3. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
  4. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661
  5. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Smits DJ, et al. Hum Genet, 2023 Mar. PMID 36538041, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34283, FLJ35497, MGC131881, MGC138350

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glyoxalase III activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in lactate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
glutamine amidotransferase-like class 1 domain-containing protein 1
Names
Parkinson disease 7 domain containing 1
ferry endosomal RAB5 effector complex subunit 5
glutamine amidotransferase like class 1 domain containing 1
parkinson disease 7 domain-containing protein 1

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.

mRNA and Protein(s)

  1. NM_001318818.2 → NP_001305747.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK293559, AP006621, BU625376
    UniProtKB/TrEMBL
    B7Z1J9
    Conserved Domains (2) summary
    cd03141
    Location:8 → 166
    GATase1_Hsp31_like; Type 1 glutamine amidotransferase (GATase1)-like domain found in proteins similar to Escherichia coli Hsp31 protein
    COG0693
    Location:31 → 154
    ThiJ; Putative intracellular protease/amidase [General function prediction only]

  2. NM_001318820.2 → NP_001305749.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) lacks an alternate internal segment and is shorter at the C-terminus compared to variant 1.
    Source sequence(s)
    AK293559, AP006621, BC143416, BU625376, DC364167
    UniProtKB/TrEMBL
    B7ZKW3
    Conserved Domains (1) summary
    cl00020
    Location:12 → 180
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

  3. NM_001318821.2 → NP_001305750.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 4 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the C-terminus compared to isoform 1.
    Source sequence(s)
    AP006621, BC143418, BU625376, DC364167
    UniProtKB/TrEMBL
    B7ZKW4
    Conserved Domains (2) summary
    cd03141
    Location:12 → 216
    GATase1_Hsp31_like; Type 1 glutamine amidotransferase (GATase1)-like domain found in proteins similar to Escherichia coli Hsp31 protein
    COG0693
    Location:21 → 204
    ThiJ; Putative intracellular protease/amidase [General function prediction only]

  4. NM_001318822.2 → NP_001305751.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N- and C-termini and lacks an alternate in-frame segment compared to isoform 1.
    Source sequence(s)
    AP006621, BC143415, BU625376, DC364167
    Conserved Domains (1) summary
    cl00020
    Location:14 → 130
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

  5. NM_001318823.2 → NP_001305752.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) is shorter at the N- and C-termini compared to isoform 1.
    Source sequence(s)
    AP006621, BC143422, BU625376, DC364167
    Conserved Domains (2) summary
    cd03141
    Location:8 → 166
    GATase1_Hsp31_like; Type 1 glutamine amidotransferase (GATase1)-like domain found in proteins similar to Escherichia coli Hsp31 protein
    COG0693
    Location:31 → 154
    ThiJ; Putative intracellular protease/amidase [General function prediction only]

  6. NM_001318824.2 → NP_001305753.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (7) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AP006621, BC143420, BU625376, DC364167
    Consensus CDS
    CCDS81530.1
    UniProtKB/Swiss-Prot
    Q8NB37
    Related
    ENSP00000431183.1, ENST00000524550.5
    Conserved Domains (1) summary
    cl00020
    Location:12 → 180
    GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

  7. NM_001410955.1 → NP_001397884.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 8 precursor

    Status: VALIDATED

    Source sequence(s)
    AP006621
    Consensus CDS
    CCDS91400.1
    UniProtKB/TrEMBL
    E9PLI5
    Related
    ENSP00000433322.1, ENST00000526325.5

  8. NM_182612.4 → NP_872418.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_872418.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK293559, AP006621, BU625376, DC364167
    Consensus CDS
    CCDS7713.1
    UniProtKB/Swiss-Prot
    B7ZKW5, Q2NL76, Q6ZQY0, Q8NAE0, Q8NB37
    Related
    ENSP00000321691.8, ENST00000319863.13
    Conserved Domains (2) summary
    cd03141
    Location:12 → 216
    GATase1_Hsp31_like; Type 1 glutamine amidotransferase (GATase1)-like domain found in proteins similar to Escherichia coli Hsp31 protein
    COG0693
    Location:21 → 204
    ThiJ; Putative intracellular protease/amidase [General function prediction only]

RNA

  1. NR_134867.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006621, BC143423, BU625376, DC364167

  2. NR_134868.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006621, BC143421, BU625376, DC364167

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    767222..777487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017668.2 → XP_016873157.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X3

  2. XM_047426880.1 → XP_047282836.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X2

  3. XM_011520064.3 → XP_011518366.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    cd03141
    Location:12 → 184
    GATase1_Hsp31_like; Type 1 glutamine amidotransferase (GATase1)-like domain found in proteins similar to Escherichia coli Hsp31 protein
    COG0693
    Location:13 → 187
    ThiJ; Putative intracellular protease/amidase [General function prediction only]

  4. XM_017017662.2 → XP_016873151.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X4

RNA

  1. XR_242802.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    818734..828922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368660.1 → XP_054224635.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X3

  2. XM_054368659.1 → XP_054224634.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X2

  3. XM_054368658.1 → XP_054224633.1  glutamine amidotransferase-like class 1 domain-containing protein 1 isoform X1

RNA

  1. XR_008488393.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NB37.1 GenPept UniProtKB/Swiss-Prot:Q8NB37

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