Seroatlas · Human Serome Atlas

GDI1

Rab GDP dissociation inhibitor alpha

Also known as: FLJ41411, GDIA_HUMAN, GDIL, MRX41, MRX48, OPHN2, RABGDIA, XAP-4

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

Protein identityUniProt · HPA

UniProt accession
P31150
Gene
GDI1
Ensembl
ENSG00000203879
Chromosome
X
Canonical length
447 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>P31150|GDI1
     1  MDEEYDVIVL GTGLTECILS GIMSVNGKKV LHMDRNPYYG GESSSITPLE ELYKRFQLLE
    61  GPPESMGRGR DWNVDLIPKF LMANGQLVKM LLYTEVTRYL DFKVVEGSFV YKGGKIYKVP
   121  STETEALASN LMGMFEKRRF RKFLVFVANF DENDPKTFEG VDPQTTSMRD VYRKFDLGQD
   181  VIDFTGHALA LYRTDDYLDQ PCLETVNRIK LYSESLARYG KSPYLYPLYG LGELPQGFAR
   241  LSAIYGGTYM LNKPVDDIIM ENGKVVGVKS EGEVARCKQL ICDPSYIPDR VRKAGQVIRI
   301  ICILSHPIKN TNDANSCQII IPQNQVNRKS DIYVCMISYA HNVAAQGKYI AIASTTVETT
   361  DPEKEVEPAL ELLEPIDQKF VAISDLYEPI DDGCESQVFC SCSYDATTHF ETTCNDIKDI
   421  YKRMAGTAFD FENMKRKQND VFGEAEQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GDI1 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)
0.23
Highest tissue expression
502 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 502 nTPM
  • cerebellum: 426 nTPM
  • hippocampal formation: 375 nTPM
  • basal ganglia: 369 nTPM
  • hypothalamus: 368 nTPM
  • amygdala: 354 nTPM

Single-cell type

  • oocytes: 147 nCPM
  • platelets: 106 nCPM
  • esophageal apical cells: 88 nCPM
  • other brain neurons: 86 nCPM
  • tuft cells: 81 nCPM
  • brain excitatory neurons: 79 nCPM

Immune cell

  • neutrophil: 30 nTPM
  • eosinophil: 27 nTPM
  • basophil: 24 nTPM
  • non-classical monocyte: 21 nTPM
  • MAIT T-cell: 18 nTPM
  • T-reg: 16 nTPM

Brain region

  • cerebral cortex: 546 nTPM
  • basal ganglia: 524 nTPM
  • white matter: 484 nTPM
  • hypothalamus: 472 nTPM
  • pons: 464 nTPM
  • hippocampal formation: 459 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GDI1.

Disease | AllUniProt

Conditions GDI1 is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked 41 (XLID41) MIM:300849

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 250 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.19
gnomAD pLI
0.99
gnomAD missense Z
3.29
DepMap mean gene effect
0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GDI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GDI1 as an antibody target. Whether an autoantibody or antibody against GDI1 could matter depends on whether native GDI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GDI1 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 GDI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GDI1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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