GFAP glial fibrillary acidic protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: GFAPprovided by HGNC
Official Full Name: glial fibrillary acidic proteinprovided by HGNC
Primary source: HGNC:HGNC:4235
See related: Ensembl:ENSG00000131095 MIM:137780; AllianceGenome:HGNC:4235
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: ALXDRD
Summary: 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]
Expression: Restricted expression toward brain (RPKM 1208.4) See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (44903159..44915500, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (45757042..45769413, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (42980527..42992868, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
Title: Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in Psychomotor Development Dynamics in Patients with Congenital Heart Defects after Cardiovascular Surgery.
Title: Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in Psychomotor Development Dynamics in Patients with Congenital Heart Defects after Cardiovascular Surgery.
Serum glial fibrillary acidic protein and disability progression in progressive multiple sclerosis.
Title: Serum glial fibrillary acidic protein and disability progression in progressive multiple sclerosis.
The role of plasma neurofilament light chain and glial fibrillary acidic protein in subjective cognitive decline and mild cognitive impairment.
Title: The role of plasma neurofilament light chain and glial fibrillary acidic protein in subjective cognitive decline and mild cognitive impairment.
Plasma glial fibrillary acidic protein levels correlate with paramagnetic rim lesions in people with radiologically isolated syndrome.
Title: Plasma glial fibrillary acidic protein levels correlate with paramagnetic rim lesions in people with radiologically isolated syndrome.
Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
Title: Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
Astrocyte biomarkers GFAP and YKL-40 mediate early Alzheimer's disease progression.
Title: Astrocyte biomarkers GFAP and YKL-40 mediate early Alzheimer's disease progression.
Serum NfL and GFAP are associated with incident dementia and dementia mortality in older adults: The cardiovascular health study.
Title: Serum NfL and GFAP are associated with incident dementia and dementia mortality in older adults: The cardiovascular health study.
Alexander disease genetics: Beyond GFAP exon sequencing?
Title: Alexander disease genetics: Beyond GFAP exon sequencing?
Neurofilament Light Chain and Glial Fibrillary Acidic Protein as early prognostic biomarkers after out-of-hospital cardiac arrest.
Title: Neurofilament Light Chain and Glial Fibrillary Acidic Protein as early prognostic biomarkers after out-of-hospital cardiac arrest.

Submit: New GeneRIF Correction See all GeneRIFs (261)

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
Alexander disease MedGen: C0270726 OMIM: 203450 GeneReviews: Alexander Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Ascorbate supplementation prevents the deleterious upregulation of iNOS and associated neuronal (MAP2) and astrocytic (GFAP) protein expression and structural changes caused by gp120 in human brain cell cultures	PubMed
	env	The phosphorylation of the two major cytoskeletal proteins, vimentin and GFAP, which is normally stimulated by isoproterenol, is partially prevented by HIV-1 gp120 in astrocytes	PubMed
	env	Treatment of human brain tissue with HIV-1 gp120 causes astrocyte alterations and/or death observed by decreases in the expression of glial fibrillary acidic protein (GFAP), as well as the diminution of a major protein of 66 kDa	PubMed
Nef	nef	HIV-1 Nef downregulates the expression of GFAP to a great extent in astrocytes than the hyperglycemia	PubMed
	nef	HIV-1 Nef co-localizes with the astrocyte-specific cytoskeleton protein GFAP in persistently nef-expressing human astrocytes, suggesting an interaction between Nef and GFAP may contribute to changes in morphology and activation state of astrocytes	PubMed
	nef	Nef upregulates the levels of glial fibrillary acidic protein (GFAP) expression in human astrocytes	PubMed
Tat	tat	HIV-1 clade B and C Tat upregulate the expression of GFAP in primary glia	PubMed
	tat	HIV-1 Tat expression in astrocytes results in a significant increase in glial fibrillary acidic protein (GFAP) expression	PubMed
	tat	HIV-1 Tat-induced upregulation and phosphorylation of STAT3 expression results in increased GFAP, Egr-1, and p300 transcription and protein expression in both Tat-expressing astrocytes, and HIV-infected astrocytes	PubMed
	tat	HIV-1 Tat-mediated upregulation of adenovirus E1a-associated 300 kDa protein p300 regulates increased GFAP expression in astrocytes	PubMed
Vpr	vpr	HIV-1 Vpr upregulates expression of CCL5 and causes CCL5 co-localization with GFAP in the cytoplasm of astrocytes	PubMed
retropepsin	gag-pol	HIV-1 protease cleaves the intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein in vitro	PubMed

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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

GFAP_102 (e-PCR)
- UniSTS:277278

RH66365 (e-PCR)
- UniSTS:49186

IB801 (e-PCR)
- UniSTS:66900

G10623 (e-PCR)
- UniSTS:79499

G60263 (e-PCR)
- UniSTS:137369

Gfap (e-PCR), detects polymorphism
- UniSTS:275866

Vim (e-PCR), detects polymorphism
- UniSTS:507308

SGC30523 (e-PCR)
- UniSTS:12976

D17S1334 (e-PCR)
- UniSTS:150219

RH78023 (e-PCR)
- UniSTS:58064

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Bergmann glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in D-aspartate import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in Schwann cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in neuron projection regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Schwann cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of chaperone-mediated autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of chaperone-mediated autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of chaperone-mediated autophagy	TAS Traceable Author Statement more info	PubMed
involved_in regulation of neurotransmitter uptake	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in astrocyte end-foot	IEA Inferred from Electronic Annotation more info
located_in cell body	IEA Inferred from Electronic Annotation more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
colocalizes_with lysosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: glial fibrillary acidic protein

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

NG_008401.2 RefSeqGene

Range

5000..17341

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001131019.3 → NP_001124491.1 glial fibrillary acidic protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 2, also known as isoform epsilon) with a shorter and distinct C-terminus when compared to isoform 1.

Source sequence(s)

AJ306447, AK128790, BF526347, DA254392

Consensus CDS

CCDS45708.1

UniProtKB/TrEMBL

B4DJW0

Related

ENSP00000403962.1, ENST00000435360.8

Conserved Domains (2) summary

pfam00038
Location:68 → 376

Filament; Intermediate filament protein

pfam04732
Location:4 → 66

Filament_head; Intermediate filament head (DNA binding) region
NM_001242376.3 → NP_001229305.1 glial fibrillary acidic protein isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs at the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 3, also known as isoform kappa) with a shorter and distinct C-terminus when compared to isoform 1.

Source sequence(s)

BC062609, BF526347, BM687259, DA254392, DA315956, DQ979832

Consensus CDS

CCDS59296.1

UniProtKB/TrEMBL

B4DJW0

Related

ENSP00000491088.1, ENST00000638281.1

Conserved Domains (2) summary

pfam00038
Location:68 → 376

Filament; Intermediate filament protein

pfam04732
Location:3 → 66

Filament_head; Intermediate filament head (DNA binding) region
NM_001363846.2 → NP_001350775.1 glial fibrillary acidic protein isoform 4

Status: REVIEWED

Source sequence(s)

AC015936

Consensus CDS

CCDS86602.1

UniProtKB/TrEMBL

A0A1X7SBR3, B4DJW0

Related

ENSP00000253408.5, ENST00000253408.11

Conserved Domains (2) summary

pfam00038
Location:68 → 376

Filament; Intermediate filament protein

pfam04732
Location:4 → 66

Filament_head; Intermediate filament head (DNA binding) region
NM_002055.5 → NP_002046.1 glial fibrillary acidic protein isoform 1

See identical proteins and their annotated locations for NP_002046.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes a predominant isoform (1, also known as alpha).

Source sequence(s)

AC015936, BC013596, BF341765, DA254392, J04569

Consensus CDS

CCDS11491.1

UniProtKB/Swiss-Prot

A7REI1, B2RD44, D3DX59, E9PAX3, P14136, Q53H98, Q5D055, Q6ZQS3, Q7Z5J6, Q7Z5J7, Q96KS4, Q96P18, Q9UFD0

UniProtKB/TrEMBL

B4DJW0

Related

ENSP00000466598.2, ENST00000588735.3

Conserved Domains (2) summary

pfam00038
Location:68 → 376

Filament; Intermediate filament protein

pfam04732
Location:4 → 66

Filament_head; Intermediate filament head (DNA binding) region