Seroatlas · Human Serome Atlas

GATD3

Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial

Also known as: C21orf33, D21S2048E, ES1, GAL3A_HUMAN, GATD3A, GT335, HES1, KNP-I, KNP-Ia, KNPH, KNPI

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P0DPI2
Gene: GATD3
Ensembl: ENSG00000160221
Chromosome: 21
Canonical length: 268 aa
Protein class: Predicted intracellular proteins
Subcellular location: Centrosome,Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

268 residues, UniProt reviewed canonical sequence.

>P0DPI2|GATD3
     1  MAAVRVLVAS RLAAASAFTS LSPGGRTPSQ RAALHLSVPR PAARVALVLS GCGVYDGTEI
    61  HEASAILVHL SRGGAEVQIF APDVPQMHVI DHTKGQPSEG ESRNVLTESA RIARGKITDL
   121  ANLSAANHDA AIFPGGFGAA KNLSTFAVDG KDCKVNKEVE RVLKEFHQAG KPIGLCCIAP
   181  VLAAKVLRGV EVTVGHEQEE GGKWPYAGTA EAIKALGAKH CVKEVVEAHV DQKNKVVTTP
   241  AFMCETALHY IHDGIGAMVR KVLELTGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 357 nTPM

Expression across tissuesHPA

Tissue

tongue: 357 nTPM
skeletal muscle: 252 nTPM
heart muscle: 187 nTPM
kidney: 156 nTPM
liver: 156 nTPM
choroid plexus: 92 nTPM

Single-cell type

breast lactating cells: 36 nCPM
enteric transient amplifying cells: 35 nCPM
enteric stem cells: 35 nCPM
epididymal efferent duct absorptive cells: 29 nCPM
kupffer cells: 29 nCPM
colonocytes: 26 nCPM

Immune cell

total PBMC: 218 nTPM
non-classical monocyte: 214 nTPM
naive B-cell: 204 nTPM
memory B-cell: 186 nTPM
T-reg: 172 nTPM
NK-cell: 161 nTPM

Brain region

pons: 109 nTPM
thalamus: 108 nTPM
medulla oblongata: 104 nTPM
cerebellum: 104 nTPM
midbrain: 103 nTPM
hypothalamus: 100 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.38
gnomAD pLI: 0
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

Class I glutamine amidotransferase-like

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GATD3 as an antibody target. Whether an autoantibody or antibody against GATD3 could matter depends on whether native GATD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GATD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GATD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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