Seroatlas · Human Serome Atlas

GFAP

Glial fibrillary acidic protein

Also known as: FLJ45472, GFAP_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P14136
Gene
GFAP
Ensembl
ENSG00000131095
Chromosome
17
Canonical length
432 aa
Protein class
Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Intermediate filaments

OverviewNCBI Gene

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

432 residues, UniProt reviewed canonical sequence.

>P14136|GFAP
     1  MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV DFSLAGALNA
    61  GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE LNQLRAKEPT KLADVYQAEL
   121  RELRLRLDQL TANSARLEVE RDNLAQDLAT VRQKLQDETN LRLEAENNLA AYRQEADEAT
   181  LARLDLERKI ESLEEEIRFL RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT
   241  QYEAMASSNM HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR
   301  GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ DLLNVKLALD
   361  IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS EGHLKRNIVV KTVEMRDGEV
   421  IKESKQEHKD VM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GFAP 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)
0.53
Highest tissue expression
15,929 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 15,929 nTPM
  • midbrain: 7,624 nTPM
  • hypothalamus: 5,882 nTPM
  • hippocampal formation: 4,235 nTPM
  • amygdala: 3,620 nTPM
  • basal ganglia: 3,079 nTPM

Single-cell type

  • astrocytes: 782 nCPM
  • ependymal cells: 193 nCPM
  • bergmann glia: 76 nCPM
  • müller glia: 61 nCPM
  • oligodendrocyte progenitor cells: 21 nCPM
  • microglia: 19 nCPM

Immune cell

  • neutrophil: 6.1 nTPM
  • NK-cell: 1.7 nTPM
  • basophil: 1.5 nTPM
  • classical monocyte: 0.8 nTPM
  • intermediate monocyte: 0.6 nTPM
  • naive B-cell: 0.5 nTPM

Brain region

  • medulla oblongata: 25,263 nTPM
  • white matter: 18,912 nTPM
  • spinal cord: 18,634 nTPM
  • hypothalamus: 18,037 nTPM
  • midbrain: 16,301 nTPM
  • thalamus: 14,782 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GFAP.

Disease | AllUniProt

Conditions GFAP is implicated in, by any mechanism.

Disease | GeneticClinVar

74 pathogenic / likely-pathogenic of 592 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on GFAP was assayed in.

Disease | AutoantibodyPubMed

Conditions in which antibodies against GFAP are reported. Each links to that disease's full target list.

Showing 7 of 13 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for GFAP from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

156 publications

Show 20 more of 156 total

Reference: B cellIEDB

1 publication

Reference: T cellIEDB

2 publications

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
1.03
gnomAD pLI
0
gnomAD missense Z
0.93
DepMap mean gene effect
0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 GFAP 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 GFAP as an antibody target. Whether an autoantibody or antibody against GFAP could matter depends on whether native GFAP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

Canonical record: https://seroatlas.com/gene/GFAP. 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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