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Protein

Glial fibrillary acidic protein

Gene

GFAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

GO - Molecular functioni

  • glycoprotein binding Source: Ensembl
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131095-MONOMER.
ReactomeiR-HSA-1251985. Nuclear signaling by ERBB4.
SIGNORiP14136.

Names & Taxonomyi

Protein namesi
Recommended name:
Glial fibrillary acidic protein
Short name:
GFAP
Gene namesi
Name:GFAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:4235. GFAP.

Subcellular locationi

GO - Cellular componenti

  • astrocyte end-foot Source: Ensembl
  • cell body Source: Ensembl
  • cytoplasm Source: MGI
  • cytoplasmic side of lysosomal membrane Source: Ensembl
  • cytosol Source: Reactome
  • intermediate filament Source: ProtInc
  • intermediate filament cytoskeleton Source: HPA
  • myelin sheath Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament

Pathology & Biotechi

Involvement in diseasei

Alexander disease (ALXDRD)23 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.
See also OMIM:203450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07151763K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant rs60095124dbSNPEnsembl.1
Natural variantiVAR_07151866R → Q in ALXDRD. 1 Publication1
Natural variantiVAR_07151970R → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607510dbSNPEnsembl.1
Natural variantiVAR_07152070R → W in ALXDRD. 1 PublicationCorresponds to variant rs60343255dbSNPEnsembl.1
Natural variantiVAR_07152172E → K in ALXDRD. 1 PublicationCorresponds to variant rs267607523dbSNPEnsembl.1
Natural variantiVAR_07152273M → K in ALXDRD. 1 PublicationCorresponds to variant rs61060395dbSNPEnsembl.1
Natural variantiVAR_07152373M → R in ALXDRD. 1 PublicationCorresponds to variant rs61060395dbSNPEnsembl.1
Natural variantiVAR_07152473M → T in ALXDRD. 1 Publication1
Natural variantiVAR_07152574M → T in ALXDRD. 1 PublicationCorresponds to variant rs267607504dbSNPEnsembl.1
Natural variantiVAR_01746576L → F in ALXDRD. 3 PublicationsCorresponds to variant rs57120761dbSNPEnsembl.1
Natural variantiVAR_07152676L → V in ALXDRD. 1 PublicationCorresponds to variant rs57120761dbSNPEnsembl.1
Natural variantiVAR_07152777N → K in ALXDRD. 1 Publication1
Natural variantiVAR_07152877N → S in ALXDRD. 2 PublicationsCorresponds to variant rs57590980dbSNPEnsembl.1
Natural variantiVAR_01746677N → Y in ALXDRD. 1 PublicationCorresponds to variant rs58732244dbSNPEnsembl.1
Natural variantiVAR_01747778D → E in ALXDRD; adult form. 1 PublicationCorresponds to variant rs121909720dbSNPEnsembl.1
Natural variantiVAR_07152978D → N in ALXDRD. 1 Publication1
Natural variantiVAR_01746779R → C in ALXDRD. 5 PublicationsCorresponds to variant rs59793293dbSNPEnsembl.1
Natural variantiVAR_07153079R → G in ALXDRD. 1 PublicationCorresponds to variant rs59793293dbSNPEnsembl.1
Natural variantiVAR_01746879R → H in ALXDRD. 4 PublicationsCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153179R → L in ALXDRD. 2 PublicationsCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153279R → P in ALXDRD. 1 PublicationCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153383Y → H in ALXDRD. 1 PublicationCorresponds to variant rs267607506dbSNPEnsembl.1
Natural variantiVAR_07153486K → E in ALXDRD. 1 Publication1
Natural variantiVAR_01746988R → C in ALXDRD. 6 PublicationsCorresponds to variant rs61622935dbSNPEnsembl.1
Natural variantiVAR_01747088R → S in ALXDRD. 2 PublicationsCorresponds to variant rs61622935dbSNPEnsembl.1
Natural variantiVAR_07153590L → P in ALXDRD. 1 PublicationCorresponds to variant rs59661476dbSNPEnsembl.1
Natural variantiVAR_07153697L → P in ALXDRD. 1 PublicationCorresponds to variant rs59568967dbSNPEnsembl.1
Natural variantiVAR_071537101L → P in ALXDRD. 1 PublicationCorresponds to variant rs267607516dbSNPEnsembl.1
Natural variantiVAR_071540207E → K in ALXDRD. 1 PublicationCorresponds to variant rs267607500dbSNPEnsembl.1
Natural variantiVAR_071541207E → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607500dbSNPEnsembl.1
Natural variantiVAR_071542210E → K in ALXDRD; affects intermediate filaments formation. 1 PublicationCorresponds to variant rs57661783dbSNPEnsembl.1
Natural variantiVAR_071543235L → P in ALXDRD. 1 PublicationCorresponds to variant rs60269890dbSNPEnsembl.1
Natural variantiVAR_071544236K → T in ALXDRD. 1 PublicationCorresponds to variant rs267607525dbSNPEnsembl.1
Natural variantiVAR_017471239R → C in ALXDRD. 5 PublicationsCorresponds to variant rs58064122dbSNPEnsembl.1
Natural variantiVAR_017472239R → H in ALXDRD. 5 PublicationsCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071545239R → L in ALXDRD. 1 PublicationCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071546239R → P in ALXDRD. 2 PublicationsCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071547242Y → D in ALXDRD. 1 PublicationCorresponds to variant rs60551555dbSNPEnsembl.1
Natural variantiVAR_017473244A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 PublicationsCorresponds to variant rs61497286dbSNPEnsembl.1
Natural variantiVAR_071548253A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant rs61726470dbSNPEnsembl.1
Natural variantiVAR_071549257Y → C in ALXDRD; impairs filaments formation. 1 PublicationCorresponds to variant rs267607505dbSNPEnsembl.1
Natural variantiVAR_017474258R → P in ALXDRD. 1 PublicationCorresponds to variant rs61726468dbSNPEnsembl.1
Natural variantiVAR_071550267A → P in ALXDRD. 1 Publication1
Natural variantiVAR_071551276R → L in ALXDRD. 1 PublicationCorresponds to variant rs121909719dbSNPEnsembl.1
Natural variantiVAR_071552279K → E in ALXDRD. 1 PublicationCorresponds to variant rs58536923dbSNPEnsembl.1
Natural variantiVAR_071553330R → G in ALXDRD; associated with Lys-332. 1 PublicationCorresponds to variant rs267607513dbSNPEnsembl.1
Natural variantiVAR_071554332E → K in ALXDRD; associated with Gly-330. 1 PublicationCorresponds to variant rs267607514dbSNPEnsembl.1
Natural variantiVAR_071555352L → P in ALXDRD. 1 PublicationCorresponds to variant rs28932769dbSNPEnsembl.1
Natural variantiVAR_071556359L → P in ALXDRD. 1 PublicationCorresponds to variant rs267607511dbSNPEnsembl.1
Natural variantiVAR_071557359L → V in ALXDRD. 1 PublicationCorresponds to variant rs60825166dbSNPEnsembl.1
Natural variantiVAR_017475362E → D in ALXDRD. 1 PublicationCorresponds to variant rs28932768dbSNPEnsembl.1
Natural variantiVAR_071558364A → P in ALXDRD. 1 PublicationCorresponds to variant rs58645997dbSNPEnsembl.1
Natural variantiVAR_071559366Y → H in ALXDRD. 1 PublicationCorresponds to variant rs58008462dbSNPEnsembl.1
Natural variantiVAR_071560371E → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607526dbSNPEnsembl.1
Natural variantiVAR_071561371E → V in ALXDRD. 1 PublicationCorresponds to variant rs57815192dbSNPEnsembl.1
Natural variantiVAR_071562373E → D in ALXDRD. 1 Publication1
Natural variantiVAR_071563373E → K in ALXDRD. 2 PublicationsCorresponds to variant rs58075601dbSNPEnsembl.1
Natural variantiVAR_071564373E → Q in ALXDRD. 1 PublicationCorresponds to variant rs58075601dbSNPEnsembl.1
Natural variantiVAR_071565374E → G in ALXDRD. 1 PublicationCorresponds to variant rs59628143dbSNPEnsembl.1
Natural variantiVAR_071566374E → Q in ALXDRD. 1 Publication1
Natural variantiVAR_071567376R → G in ALXDRD. 1 PublicationCorresponds to variant rs267607512dbSNPEnsembl.1
Natural variantiVAR_071568385S → F in ALXDRD. 1 Publication1
Natural variantiVAR_017476416R → W in ALXDRD. 5 PublicationsCorresponds to variant rs121909717dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi2670.
MalaCardsiGFAP.
MIMi203450. phenotype.
OpenTargetsiENSG00000131095.
Orphaneti363717. Alexander disease type I.
363722. Alexander disease type II.
PharmGKBiPA28647.

Polymorphism and mutation databases

BioMutaiGFAP.
DMDMi121135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000638051 – 432Glial fibrillary acidic proteinAdd BLAST432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei7Phosphothreonine; by AURKB and ROCK12 Publications1
Modified residuei12Omega-N-methylarginineBy similarity1
Modified residuei13Phosphoserine; by AURKB and ROCK12 Publications1
Modified residuei30Citrulline1 Publication1
Modified residuei36Citrulline1 Publication1
Modified residuei38Phosphoserine; by AURKB and ROCK12 Publications1
Modified residuei82PhosphoserineBy similarity1
Modified residuei110PhosphothreonineBy similarity1
Modified residuei150PhosphothreonineBy similarity1
Modified residuei270Citrulline1 Publication1
Modified residuei323PhosphoserineBy similarity1
Modified residuei383PhosphothreonineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei406Citrulline1 Publication1
Modified residuei416Citrulline1 Publication1

Post-translational modificationi

Phosphorylated by PKN1.3 Publications

Keywords - PTMi

Citrullination, Methylation, Phosphoprotein

Proteomic databases

MaxQBiP14136.
PaxDbiP14136.
PeptideAtlasiP14136.
PRIDEiP14136.

2D gel databases

REPRODUCTION-2DPAGEP14136.
UCD-2DPAGEP14136.

PTM databases

iPTMnetiP14136.
PhosphoSitePlusiP14136.
SwissPalmiP14136.

Miscellaneous databases

PMAP-CutDBP14136.

Expressioni

Tissue specificityi

Expressed in cells lacking fibronectin.1 Publication

Gene expression databases

BgeeiENSG00000131095.
ExpressionAtlasiP14136. baseline and differential.
GenevisibleiP14136. HS.

Organism-specific databases

HPAiCAB000039.
HPA056030.
HPA063513.

Interactioni

Subunit structurei

Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-744302,EBI-744302
AESQ081173EBI-744302,EBI-717810
BIRC2Q134903EBI-744302,EBI-514538
C6orf165Q8IYR03EBI-744302,EBI-749051
DESP176614EBI-744302,EBI-1055572
FAM50BQ9Y2473EBI-744302,EBI-742802
GOLGA2Q083793EBI-744302,EBI-618309
KRT13A1A4E94EBI-744302,EBI-10171552
KRT15P190123EBI-744302,EBI-739566
LGALS14Q8TCE95EBI-744302,EBI-10274069
LMO2P257913EBI-744302,EBI-739696
MOSP005403EBI-744302,EBI-1757866
NXF1Q9UBU93EBI-744302,EBI-398874
PIAS2O759283EBI-744302,EBI-348555
PIH1D2Q8WWB53EBI-744302,EBI-10232538
RORAP353983EBI-744302,EBI-748689
SH3YL1Q96HL84EBI-744302,EBI-722667
TRIM27P143733EBI-744302,EBI-719493
VIMP086703EBI-744302,EBI-353844
ZC2HC1CQ53FD03EBI-744302,EBI-740767

Protein-protein interaction databases

BioGridi108938. 77 interactors.
IntActiP14136. 69 interactors.
MINTiMINT-1450103.
STRINGi9606.ENSP00000253408.

Structurei

3D structure databases

ProteinModelPortaliP14136.
SMRiP14136.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 72HeadAdd BLAST72
Regioni73 – 377RodAdd BLAST305
Regioni73 – 104Coil 1AAdd BLAST32
Regioni105 – 115Linker 1Add BLAST11
Regioni116 – 214Coil 1BAdd BLAST99
Regioni215 – 230Linker 12Add BLAST16
Regioni231 – 252Coil 2AAdd BLAST22
Regioni253 – 256Linker 24
Regioni257 – 377Coil 2BAdd BLAST121
Regioni378 – 432TailAdd BLAST55

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJXF. Eukaryota.
ENOG410Y9QE. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP14136.
KOiK05640.
OMAiHLQEYQE.
OrthoDBiEOG091G12MK.
PhylomeDBiP14136.
TreeFamiTF330122.

Family and domain databases

InterProiIPR027701. GFAP.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF41. PTHR23239:SF41. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Isoforms differ in the C-terminal region which is encoded by alternative exons.
Isoform 1 (identifier: P14136-1) [UniParc]FASTAAdd to basket
Also known as: GFAP alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV
60 70 80 90 100
DFSLAGALNA GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE
110 120 130 140 150
LNQLRAKEPT KLADVYQAEL RELRLRLDQL TANSARLEVE RDNLAQDLAT
160 170 180 190 200
VRQKLQDETN LRLEAENNLA AYRQEADEAT LARLDLERKI ESLEEEIRFL
210 220 230 240 250
RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT QYEAMASSNM
260 270 280 290 300
HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR
310 320 330 340 350
GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ
360 370 380 390 400
DLLNVKLALD IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS
410 420 430
EGHLKRNIVV KTVEMRDGEV IKESKQEHKD VM
Length:432
Mass (Da):49,880
Last modified:January 1, 1990 - v1
Checksum:iE6C3B3454C3F1250
GO
Isoform 2 (identifier: P14136-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-432: ETSLDTKSVS...ESKQEHKDVM → GQYSRASWEG...LGAFVTLQRS

Note: No experimental confirmation available.
Show »
Length:438
Mass (Da):50,289
Checksum:i05F98D5333D60FE4
GO
Isoform 3 (identifier: P14136-3) [UniParc]FASTAAdd to basket
Also known as: GFAP epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     391-432: ETSLDTKSVS...ESKQEHKDVM → GGKSTKDGEN...IVNGTPPARG

Show »
Length:431
Mass (Da):49,508
Checksum:i5D716D21A95240D6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti121R → P in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti146Q → H (PubMed:1847665).Curated1
Sequence conflicti151V → L (PubMed:1847665).Curated1
Sequence conflicti155Missing in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti158E → G in AAL16662 (Ref. 6) Curated1
Sequence conflicti160N → K (PubMed:1847665).Curated1
Sequence conflicti166E → D (PubMed:1847665).Curated1
Sequence conflicti174Q → QQ in CAB61354 (PubMed:17974005).Curated1
Sequence conflicti258R → H (PubMed:1847665).Curated1
Sequence conflicti326E → V in BAD96403 (Ref. 8) Curated1
Sequence conflicti334E → D (PubMed:1847665).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01746447P → L.2 PublicationsCorresponds to variant rs57474185dbSNPEnsembl.1
Natural variantiVAR_07151763K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant rs60095124dbSNPEnsembl.1
Natural variantiVAR_07151866R → Q in ALXDRD. 1 Publication1
Natural variantiVAR_07151970R → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607510dbSNPEnsembl.1
Natural variantiVAR_07152070R → W in ALXDRD. 1 PublicationCorresponds to variant rs60343255dbSNPEnsembl.1
Natural variantiVAR_07152172E → K in ALXDRD. 1 PublicationCorresponds to variant rs267607523dbSNPEnsembl.1
Natural variantiVAR_07152273M → K in ALXDRD. 1 PublicationCorresponds to variant rs61060395dbSNPEnsembl.1
Natural variantiVAR_07152373M → R in ALXDRD. 1 PublicationCorresponds to variant rs61060395dbSNPEnsembl.1
Natural variantiVAR_07152473M → T in ALXDRD. 1 Publication1
Natural variantiVAR_07152574M → T in ALXDRD. 1 PublicationCorresponds to variant rs267607504dbSNPEnsembl.1
Natural variantiVAR_01746576L → F in ALXDRD. 3 PublicationsCorresponds to variant rs57120761dbSNPEnsembl.1
Natural variantiVAR_07152676L → V in ALXDRD. 1 PublicationCorresponds to variant rs57120761dbSNPEnsembl.1
Natural variantiVAR_07152777N → K in ALXDRD. 1 Publication1
Natural variantiVAR_07152877N → S in ALXDRD. 2 PublicationsCorresponds to variant rs57590980dbSNPEnsembl.1
Natural variantiVAR_01746677N → Y in ALXDRD. 1 PublicationCorresponds to variant rs58732244dbSNPEnsembl.1
Natural variantiVAR_01747778D → E in ALXDRD; adult form. 1 PublicationCorresponds to variant rs121909720dbSNPEnsembl.1
Natural variantiVAR_07152978D → N in ALXDRD. 1 Publication1
Natural variantiVAR_01746779R → C in ALXDRD. 5 PublicationsCorresponds to variant rs59793293dbSNPEnsembl.1
Natural variantiVAR_07153079R → G in ALXDRD. 1 PublicationCorresponds to variant rs59793293dbSNPEnsembl.1
Natural variantiVAR_01746879R → H in ALXDRD. 4 PublicationsCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153179R → L in ALXDRD. 2 PublicationsCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153279R → P in ALXDRD. 1 PublicationCorresponds to variant rs59285727dbSNPEnsembl.1
Natural variantiVAR_07153383Y → H in ALXDRD. 1 PublicationCorresponds to variant rs267607506dbSNPEnsembl.1
Natural variantiVAR_07153486K → E in ALXDRD. 1 Publication1
Natural variantiVAR_01746988R → C in ALXDRD. 6 PublicationsCorresponds to variant rs61622935dbSNPEnsembl.1
Natural variantiVAR_01747088R → S in ALXDRD. 2 PublicationsCorresponds to variant rs61622935dbSNPEnsembl.1
Natural variantiVAR_07153590L → P in ALXDRD. 1 PublicationCorresponds to variant rs59661476dbSNPEnsembl.1
Natural variantiVAR_07153697L → P in ALXDRD. 1 PublicationCorresponds to variant rs59568967dbSNPEnsembl.1
Natural variantiVAR_071537101L → P in ALXDRD. 1 PublicationCorresponds to variant rs267607516dbSNPEnsembl.1
Natural variantiVAR_071538115V → I.1 PublicationCorresponds to variant rs56746197dbSNPEnsembl.1
Natural variantiVAR_071539157D → N.1 PublicationCorresponds to variant rs59291670dbSNPEnsembl.1
Natural variantiVAR_071540207E → K in ALXDRD. 1 PublicationCorresponds to variant rs267607500dbSNPEnsembl.1
Natural variantiVAR_071541207E → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607500dbSNPEnsembl.1
Natural variantiVAR_071542210E → K in ALXDRD; affects intermediate filaments formation. 1 PublicationCorresponds to variant rs57661783dbSNPEnsembl.1
Natural variantiVAR_017478223E → Q.2 PublicationsCorresponds to variant rs56679084dbSNPEnsembl.1
Natural variantiVAR_071543235L → P in ALXDRD. 1 PublicationCorresponds to variant rs60269890dbSNPEnsembl.1
Natural variantiVAR_071544236K → T in ALXDRD. 1 PublicationCorresponds to variant rs267607525dbSNPEnsembl.1
Natural variantiVAR_017471239R → C in ALXDRD. 5 PublicationsCorresponds to variant rs58064122dbSNPEnsembl.1
Natural variantiVAR_017472239R → H in ALXDRD. 5 PublicationsCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071545239R → L in ALXDRD. 1 PublicationCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071546239R → P in ALXDRD. 2 PublicationsCorresponds to variant rs59565950dbSNPEnsembl.1
Natural variantiVAR_071547242Y → D in ALXDRD. 1 PublicationCorresponds to variant rs60551555dbSNPEnsembl.1
Natural variantiVAR_017473244A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 PublicationsCorresponds to variant rs61497286dbSNPEnsembl.1
Natural variantiVAR_071548253A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 PublicationCorresponds to variant rs61726470dbSNPEnsembl.1
Natural variantiVAR_071549257Y → C in ALXDRD; impairs filaments formation. 1 PublicationCorresponds to variant rs267607505dbSNPEnsembl.1
Natural variantiVAR_017474258R → P in ALXDRD. 1 PublicationCorresponds to variant rs61726468dbSNPEnsembl.1
Natural variantiVAR_071550267A → P in ALXDRD. 1 Publication1
Natural variantiVAR_071551276R → L in ALXDRD. 1 PublicationCorresponds to variant rs121909719dbSNPEnsembl.1
Natural variantiVAR_071552279K → E in ALXDRD. 1 PublicationCorresponds to variant rs58536923dbSNPEnsembl.1
Natural variantiVAR_017479295D → N.2 PublicationsCorresponds to variant rs1126642dbSNPEnsembl.1
Natural variantiVAR_071553330R → G in ALXDRD; associated with Lys-332. 1 PublicationCorresponds to variant rs267607513dbSNPEnsembl.1
Natural variantiVAR_071554332E → K in ALXDRD; associated with Gly-330. 1 PublicationCorresponds to variant rs267607514dbSNPEnsembl.1
Natural variantiVAR_071555352L → P in ALXDRD. 1 PublicationCorresponds to variant rs28932769dbSNPEnsembl.1
Natural variantiVAR_071556359L → P in ALXDRD. 1 PublicationCorresponds to variant rs267607511dbSNPEnsembl.1
Natural variantiVAR_071557359L → V in ALXDRD. 1 PublicationCorresponds to variant rs60825166dbSNPEnsembl.1
Natural variantiVAR_017475362E → D in ALXDRD. 1 PublicationCorresponds to variant rs28932768dbSNPEnsembl.1
Natural variantiVAR_071558364A → P in ALXDRD. 1 PublicationCorresponds to variant rs58645997dbSNPEnsembl.1
Natural variantiVAR_071559366Y → H in ALXDRD. 1 PublicationCorresponds to variant rs58008462dbSNPEnsembl.1
Natural variantiVAR_071560371E → Q in ALXDRD. 1 PublicationCorresponds to variant rs267607526dbSNPEnsembl.1
Natural variantiVAR_071561371E → V in ALXDRD. 1 PublicationCorresponds to variant rs57815192dbSNPEnsembl.1
Natural variantiVAR_071562373E → D in ALXDRD. 1 Publication1
Natural variantiVAR_071563373E → K in ALXDRD. 2 PublicationsCorresponds to variant rs58075601dbSNPEnsembl.1
Natural variantiVAR_071564373E → Q in ALXDRD. 1 PublicationCorresponds to variant rs58075601dbSNPEnsembl.1
Natural variantiVAR_071565374E → G in ALXDRD. 1 PublicationCorresponds to variant rs59628143dbSNPEnsembl.1
Natural variantiVAR_071566374E → Q in ALXDRD. 1 Publication1
Natural variantiVAR_071567376R → G in ALXDRD. 1 PublicationCorresponds to variant rs267607512dbSNPEnsembl.1
Natural variantiVAR_071568385S → F in ALXDRD. 1 Publication1
Natural variantiVAR_017476416R → W in ALXDRD. 5 PublicationsCorresponds to variant rs121909717dbSNPEnsembl.1
Isoform 3 (identifier: P14136-3)
Natural varianti426T → A.1
Natural varianti426T → V.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017051391 – 432ETSLD…HKDVM → GQYSRASWEGHWSPAPSSRA CRLLQTGTEDQGKGIQLSLG AFVTLQRS in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_017052391 – 432ETSLD…HKDVM → GGKSTKDGENHKVTRYLKSL TIRVIPIQAHQIVNGTPPAR G in isoform 3. 2 PublicationsAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04569 mRNA. Translation: AAA52528.1.
S40719 mRNA. Translation: AAB22581.1.
AF419299 mRNA. Translation: AAL16662.1.
AK128790 mRNA. Translation: BAC87610.1.
AK222683 mRNA. Translation: BAD96403.1.
AK315398 mRNA. Translation: BAG37791.1.
AL133013 Transcribed RNA. Translation: CAB61354.2.
AC015936 Genomic DNA. No translation available.
CH471178 Genomic DNA. Translation: EAW51570.1.
CH471178 Genomic DNA. Translation: EAW51571.1.
BC013596 mRNA. Translation: AAH13596.1.
BC041765 mRNA. Translation: AAH41765.1.
BC062609 mRNA. Translation: AAH62609.1.
M26638 mRNA. Translation: AAA52529.1.
AJ306447 mRNA. Translation: CAC69881.1.
AY142187 Genomic DNA. Translation: AAN87903.1.
AY142188 Genomic DNA. Translation: AAN87904.1.
AY142191 Genomic DNA. Translation: AAN87907.1.
CCDSiCCDS11491.1. [P14136-1]
CCDS45708.1. [P14136-3]
CCDS59296.1. [P14136-2]
PIRiA32936.
T42645.
RefSeqiNP_001124491.1. NM_001131019.2. [P14136-3]
NP_001229305.1. NM_001242376.1. [P14136-2]
NP_002046.1. NM_002055.4. [P14136-1]
UniGeneiHs.514227.

Genome annotation databases

EnsembliENST00000253408; ENSP00000253408; ENSG00000131095. [P14136-1]
ENST00000435360; ENSP00000403962; ENSG00000131095. [P14136-3]
ENST00000586793; ENSP00000468500; ENSG00000131095. [P14136-2]
GeneIDi2670.
KEGGihsa:2670.
UCSCiuc002ihq.3. human. [P14136-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

GFAP entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04569 mRNA. Translation: AAA52528.1.
S40719 mRNA. Translation: AAB22581.1.
AF419299 mRNA. Translation: AAL16662.1.
AK128790 mRNA. Translation: BAC87610.1.
AK222683 mRNA. Translation: BAD96403.1.
AK315398 mRNA. Translation: BAG37791.1.
AL133013 Transcribed RNA. Translation: CAB61354.2.
AC015936 Genomic DNA. No translation available.
CH471178 Genomic DNA. Translation: EAW51570.1.
CH471178 Genomic DNA. Translation: EAW51571.1.
BC013596 mRNA. Translation: AAH13596.1.
BC041765 mRNA. Translation: AAH41765.1.
BC062609 mRNA. Translation: AAH62609.1.
M26638 mRNA. Translation: AAA52529.1.
AJ306447 mRNA. Translation: CAC69881.1.
AY142187 Genomic DNA. Translation: AAN87903.1.
AY142188 Genomic DNA. Translation: AAN87904.1.
AY142191 Genomic DNA. Translation: AAN87907.1.
CCDSiCCDS11491.1. [P14136-1]
CCDS45708.1. [P14136-3]
CCDS59296.1. [P14136-2]
PIRiA32936.
T42645.
RefSeqiNP_001124491.1. NM_001131019.2. [P14136-3]
NP_001229305.1. NM_001242376.1. [P14136-2]
NP_002046.1. NM_002055.4. [P14136-1]
UniGeneiHs.514227.

3D structure databases

ProteinModelPortaliP14136.
SMRiP14136.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108938. 77 interactors.
IntActiP14136. 69 interactors.
MINTiMINT-1450103.
STRINGi9606.ENSP00000253408.

PTM databases

iPTMnetiP14136.
PhosphoSitePlusiP14136.
SwissPalmiP14136.

Polymorphism and mutation databases

BioMutaiGFAP.
DMDMi121135.

2D gel databases

REPRODUCTION-2DPAGEP14136.
UCD-2DPAGEP14136.

Proteomic databases

MaxQBiP14136.
PaxDbiP14136.
PeptideAtlasiP14136.
PRIDEiP14136.

Protocols and materials databases

DNASUi2670.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253408; ENSP00000253408; ENSG00000131095. [P14136-1]
ENST00000435360; ENSP00000403962; ENSG00000131095. [P14136-3]
ENST00000586793; ENSP00000468500; ENSG00000131095. [P14136-2]
GeneIDi2670.
KEGGihsa:2670.
UCSCiuc002ihq.3. human. [P14136-1]

Organism-specific databases

CTDi2670.
DisGeNETi2670.
GeneCardsiGFAP.
GeneReviewsiGFAP.
HGNCiHGNC:4235. GFAP.
HPAiCAB000039.
HPA056030.
HPA063513.
MalaCardsiGFAP.
MIMi137780. gene.
203450. phenotype.
neXtProtiNX_P14136.
OpenTargetsiENSG00000131095.
Orphaneti363717. Alexander disease type I.
363722. Alexander disease type II.
PharmGKBiPA28647.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJXF. Eukaryota.
ENOG410Y9QE. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP14136.
KOiK05640.
OMAiHLQEYQE.
OrthoDBiEOG091G12MK.
PhylomeDBiP14136.
TreeFamiTF330122.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131095-MONOMER.
ReactomeiR-HSA-1251985. Nuclear signaling by ERBB4.
SIGNORiP14136.

Miscellaneous databases

ChiTaRSiGFAP. human.
GeneWikiiGlial_fibrillary_acidic_protein.
GenomeRNAii2670.
PMAP-CutDBP14136.
PROiP14136.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131095.
ExpressionAtlasiP14136. baseline and differential.
GenevisibleiP14136. HS.

Family and domain databases

InterProiIPR027701. GFAP.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF41. PTHR23239:SF41. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGFAP_HUMAN
AccessioniPrimary (citable) accession number: P14136
Secondary accession number(s): B2RD44
, D3DX59, E9PAX3, Q53H98, Q5D055, Q6ZQS3, Q7Z5J6, Q7Z5J7, Q96KS4, Q96P18, Q9UFD0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 1, 1990
Last modified: November 30, 2016
This is version 183 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.