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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

  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

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
  • cytosol Source: Reactome
  • intermediate filament Source: ProtInc
  • intermediate filament cytoskeleton Source: HPA
  • membrane Source: Ensembl
  • 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
Corresponds to variant rs60095124 [ dbSNP | Ensembl ].
VAR_071517
Natural varianti66 – 661R → Q in ALXDRD. 1 Publication
VAR_071518
Natural varianti70 – 701R → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607510 [ dbSNP | Ensembl ].
VAR_071519
Natural varianti70 – 701R → W in ALXDRD. 1 Publication
Corresponds to variant rs60343255 [ dbSNP | Ensembl ].
VAR_071520
Natural varianti72 – 721E → K in ALXDRD. 1 Publication
Corresponds to variant rs267607523 [ dbSNP | Ensembl ].
VAR_071521
Natural varianti73 – 731M → K in ALXDRD. 1 Publication
Corresponds to variant rs61060395 [ dbSNP | Ensembl ].
VAR_071522
Natural varianti73 – 731M → R in ALXDRD. 1 Publication
Corresponds to variant rs61060395 [ dbSNP | Ensembl ].
VAR_071523
Natural varianti73 – 731M → T in ALXDRD. 1 Publication
VAR_071524
Natural varianti74 – 741M → T in ALXDRD. 1 Publication
Corresponds to variant rs267607504 [ dbSNP | Ensembl ].
VAR_071525
Natural varianti76 – 761L → F in ALXDRD. 3 Publications
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
Natural varianti76 – 761L → V in ALXDRD. 1 Publication
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_071526
Natural varianti77 – 771N → K in ALXDRD. 1 Publication
VAR_071527
Natural varianti77 – 771N → S in ALXDRD. 2 Publications
Corresponds to variant rs57590980 [ dbSNP | Ensembl ].
VAR_071528
Natural varianti77 – 771N → Y in ALXDRD. 1 Publication
Corresponds to variant rs58732244 [ dbSNP | Ensembl ].
VAR_017466
Natural varianti78 – 781D → E in ALXDRD; adult form. 1 Publication
Corresponds to variant rs121909720 [ dbSNP | Ensembl ].
VAR_017477
Natural varianti78 – 781D → N in ALXDRD. 1 Publication
VAR_071529
Natural varianti79 – 791R → C in ALXDRD. 5 Publications
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → G in ALXDRD. 1 Publication
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_071530
Natural varianti79 – 791R → H in ALXDRD. 4 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti79 – 791R → L in ALXDRD. 2 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_071531
Natural varianti79 – 791R → P in ALXDRD. 1 Publication
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_071532
Natural varianti83 – 831Y → H in ALXDRD. 1 Publication
Corresponds to variant rs267607506 [ dbSNP | Ensembl ].
VAR_071533
Natural varianti86 – 861K → E in ALXDRD. 1 Publication
VAR_071534
Natural varianti88 – 881R → C in ALXDRD. 6 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALXDRD. 2 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017470
Natural varianti90 – 901L → P in ALXDRD. 1 Publication
Corresponds to variant rs59661476 [ dbSNP | Ensembl ].
VAR_071535
Natural varianti97 – 971L → P in ALXDRD. 1 Publication
Corresponds to variant rs59568967 [ dbSNP | Ensembl ].
VAR_071536
Natural varianti101 – 1011L → P in ALXDRD. 1 Publication
Corresponds to variant rs267607516 [ dbSNP | Ensembl ].
VAR_071537
Natural varianti207 – 2071E → K in ALXDRD. 1 Publication
Corresponds to variant rs267607500 [ dbSNP | Ensembl ].
VAR_071540
Natural varianti207 – 2071E → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607500 [ dbSNP | Ensembl ].
VAR_071541
Natural varianti210 – 2101E → K in ALXDRD; affects intermediate filaments formation. 1 Publication
Corresponds to variant rs57661783 [ dbSNP | Ensembl ].
VAR_071542
Natural varianti235 – 2351L → P in ALXDRD. 1 Publication
Corresponds to variant rs60269890 [ dbSNP | Ensembl ].
VAR_071543
Natural varianti236 – 2361K → T in ALXDRD. 1 Publication
Corresponds to variant rs267607525 [ dbSNP | Ensembl ].
VAR_071544
Natural varianti239 – 2391R → C in ALXDRD. 5 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALXDRD. 5 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti239 – 2391R → L in ALXDRD. 1 Publication
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_071545
Natural varianti239 – 2391R → P in ALXDRD. 2 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_071546
Natural varianti242 – 2421Y → D in ALXDRD. 1 Publication
Corresponds to variant rs60551555 [ dbSNP | Ensembl ].
VAR_071547
Natural varianti244 – 2441A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 Publications
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti253 – 2531A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
Corresponds to variant rs61726470 [ dbSNP | Ensembl ].
VAR_071548
Natural varianti257 – 2571Y → C in ALXDRD; impairs filaments formation. 1 Publication
Corresponds to variant rs267607505 [ dbSNP | Ensembl ].
VAR_071549
Natural varianti258 – 2581R → P in ALXDRD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti267 – 2671A → P in ALXDRD. 1 Publication
VAR_071550
Natural varianti276 – 2761R → L in ALXDRD. 1 Publication
Corresponds to variant rs121909719 [ dbSNP | Ensembl ].
VAR_071551
Natural varianti279 – 2791K → E in ALXDRD. 1 Publication
Corresponds to variant rs58536923 [ dbSNP | Ensembl ].
VAR_071552
Natural varianti330 – 3301R → G in ALXDRD; associated with Lys-332. 1 Publication
Corresponds to variant rs267607513 [ dbSNP | Ensembl ].
VAR_071553
Natural varianti332 – 3321E → K in ALXDRD; associated with Gly-330. 1 Publication
Corresponds to variant rs267607514 [ dbSNP | Ensembl ].
VAR_071554
Natural varianti352 – 3521L → P in ALXDRD. 1 Publication
Corresponds to variant rs28932769 [ dbSNP | Ensembl ].
VAR_071555
Natural varianti359 – 3591L → P in ALXDRD. 1 Publication
Corresponds to variant rs267607511 [ dbSNP | Ensembl ].
VAR_071556
Natural varianti359 – 3591L → V in ALXDRD. 1 Publication
Corresponds to variant rs60825166 [ dbSNP | Ensembl ].
VAR_071557
Natural varianti362 – 3621E → D in ALXDRD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti364 – 3641A → P in ALXDRD. 1 Publication
Corresponds to variant rs58645997 [ dbSNP | Ensembl ].
VAR_071558
Natural varianti366 – 3661Y → H in ALXDRD. 1 Publication
Corresponds to variant rs58008462 [ dbSNP | Ensembl ].
VAR_071559
Natural varianti371 – 3711E → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607526 [ dbSNP | Ensembl ].
VAR_071560
Natural varianti371 – 3711E → V in ALXDRD. 1 Publication
Corresponds to variant rs57815192 [ dbSNP | Ensembl ].
VAR_071561
Natural varianti373 – 3731E → D in ALXDRD. 1 Publication
VAR_071562
Natural varianti373 – 3731E → K in ALXDRD. 2 Publications
Corresponds to variant rs58075601 [ dbSNP | Ensembl ].
VAR_071563
Natural varianti373 – 3731E → Q in ALXDRD. 1 Publication
Corresponds to variant rs58075601 [ dbSNP | Ensembl ].
VAR_071564
Natural varianti374 – 3741E → G in ALXDRD. 1 Publication
Corresponds to variant rs59628143 [ dbSNP | Ensembl ].
VAR_071565
Natural varianti374 – 3741E → Q in ALXDRD. 1 Publication
VAR_071566
Natural varianti376 – 3761R → G in ALXDRD. 1 Publication
Corresponds to variant rs267607512 [ dbSNP | Ensembl ].
VAR_071567
Natural varianti385 – 3851S → F in ALXDRD. 1 Publication
VAR_071568
Natural varianti416 – 4161R → W in ALXDRD. 5 Publications
Corresponds to variant rs121909717 [ dbSNP | Ensembl ].
VAR_017476

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiGFAP.
DMDMi121135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 432432Glial fibrillary acidic proteinPRO_0000063805Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei7 – 71Phosphothreonine; by AURKB and ROCK12 Publications
Modified residuei13 – 131Phosphoserine; by AURKB and ROCK12 Publications
Modified residuei30 – 301Citrulline1 Publication
Modified residuei36 – 361Citrulline1 Publication
Modified residuei38 – 381Phosphoserine; by AURKB and ROCK12 Publications
Modified residuei82 – 821PhosphoserineBy similarity
Modified residuei110 – 1101PhosphothreonineBy similarity
Modified residuei150 – 1501PhosphothreonineBy similarity
Modified residuei270 – 2701Citrulline1 Publication
Modified residuei323 – 3231PhosphoserineBy similarity
Modified residuei383 – 3831PhosphothreonineBy similarity
Modified residuei385 – 3851PhosphoserineBy similarity
Modified residuei406 – 4061Citrulline1 Publication
Modified residuei416 – 4161Citrulline1 Publication

Post-translational modificationi

Phosphorylated by PKN1.3 Publications

Keywords - PTMi

Citrullination, Phosphoprotein

Proteomic databases

EPDiP14136.
MaxQBiP14136.
PaxDbiP14136.
PeptideAtlasiP14136.
PRIDEiP14136.

2D gel databases

REPRODUCTION-2DPAGEP14136.
UCD-2DPAGEP14136.

PTM databases

iPTMnetiP14136.
PhosphoSiteiP14136.
SwissPalmiP14136.

Miscellaneous databases

PMAP-CutDBP14136.

Expressioni

Tissue specificityi

Expressed in cells lacking fibronectin.1 Publication

Gene expression databases

BgeeiP14136.
ExpressionAtlasiP14136. baseline and differential.
GenevisibleiP14136. HS.

Organism-specific databases

HPAiCAB000039.
HPA056030.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
AESQ081173EBI-744302,EBI-717810
BIRC2Q134903EBI-744302,EBI-514538
C6orf165Q8IYR03EBI-744302,EBI-749051
FAM50BQ9Y2473EBI-744302,EBI-742802
GOLGA2Q083793EBI-744302,EBI-618309
KRT13A1A4E94EBI-744302,EBI-10171552
KRT15P190123EBI-744302,EBI-739566
LGALS14Q8TCE93EBI-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
ZC2HC1CQ53FD03EBI-744302,EBI-740767

Protein-protein interaction databases

BioGridi108938. 77 interactions.
IntActiP14136. 44 interactions.
MINTiMINT-1450103.
STRINGi9606.ENSP00000253408.

Structurei

3D structure databases

ProteinModelPortaliP14136.
SMRiP14136. Positions 65-204, 229-372.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 7272HeadAdd
BLAST
Regioni73 – 377305RodAdd
BLAST
Regioni73 – 10432Coil 1AAdd
BLAST
Regioni105 – 11511Linker 1Add
BLAST
Regioni116 – 21499Coil 1BAdd
BLAST
Regioni215 – 23016Linker 12Add
BLAST
Regioni231 – 25222Coil 2AAdd
BLAST
Regioni253 – 2564Linker 2
Regioni257 – 377121Coil 2BAdd
BLAST
Regioni378 – 43255TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJXF. Eukaryota.
ENOG410Y9QE. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP14136.
KOiK05640.
OMAiHLQEYQE.
OrthoDBiEOG7FV3Q8.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti121 – 1211R → P in CAB61354 (PubMed:17974005).Curated
Sequence conflicti146 – 1461Q → H (PubMed:1847665).Curated
Sequence conflicti151 – 1511V → L (PubMed:1847665).Curated
Sequence conflicti155 – 1551Missing in CAB61354 (PubMed:17974005).Curated
Sequence conflicti158 – 1581E → G in AAL16662 (Ref. 6) Curated
Sequence conflicti160 – 1601N → K (PubMed:1847665).Curated
Sequence conflicti166 – 1661E → D (PubMed:1847665).Curated
Sequence conflicti174 – 1741Q → QQ in CAB61354 (PubMed:17974005).Curated
Sequence conflicti258 – 2581R → H (PubMed:1847665).Curated
Sequence conflicti326 – 3261E → V in BAD96403 (Ref. 8) Curated
Sequence conflicti334 – 3341E → D (PubMed:1847665).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471P → L.2 Publications
Corresponds to variant rs57474185 [ dbSNP | Ensembl ].
VAR_017464
Natural varianti63 – 631K → Q in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
Corresponds to variant rs60095124 [ dbSNP | Ensembl ].
VAR_071517
Natural varianti66 – 661R → Q in ALXDRD. 1 Publication
VAR_071518
Natural varianti70 – 701R → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607510 [ dbSNP | Ensembl ].
VAR_071519
Natural varianti70 – 701R → W in ALXDRD. 1 Publication
Corresponds to variant rs60343255 [ dbSNP | Ensembl ].
VAR_071520
Natural varianti72 – 721E → K in ALXDRD. 1 Publication
Corresponds to variant rs267607523 [ dbSNP | Ensembl ].
VAR_071521
Natural varianti73 – 731M → K in ALXDRD. 1 Publication
Corresponds to variant rs61060395 [ dbSNP | Ensembl ].
VAR_071522
Natural varianti73 – 731M → R in ALXDRD. 1 Publication
Corresponds to variant rs61060395 [ dbSNP | Ensembl ].
VAR_071523
Natural varianti73 – 731M → T in ALXDRD. 1 Publication
VAR_071524
Natural varianti74 – 741M → T in ALXDRD. 1 Publication
Corresponds to variant rs267607504 [ dbSNP | Ensembl ].
VAR_071525
Natural varianti76 – 761L → F in ALXDRD. 3 Publications
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
Natural varianti76 – 761L → V in ALXDRD. 1 Publication
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_071526
Natural varianti77 – 771N → K in ALXDRD. 1 Publication
VAR_071527
Natural varianti77 – 771N → S in ALXDRD. 2 Publications
Corresponds to variant rs57590980 [ dbSNP | Ensembl ].
VAR_071528
Natural varianti77 – 771N → Y in ALXDRD. 1 Publication
Corresponds to variant rs58732244 [ dbSNP | Ensembl ].
VAR_017466
Natural varianti78 – 781D → E in ALXDRD; adult form. 1 Publication
Corresponds to variant rs121909720 [ dbSNP | Ensembl ].
VAR_017477
Natural varianti78 – 781D → N in ALXDRD. 1 Publication
VAR_071529
Natural varianti79 – 791R → C in ALXDRD. 5 Publications
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → G in ALXDRD. 1 Publication
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_071530
Natural varianti79 – 791R → H in ALXDRD. 4 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti79 – 791R → L in ALXDRD. 2 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_071531
Natural varianti79 – 791R → P in ALXDRD. 1 Publication
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_071532
Natural varianti83 – 831Y → H in ALXDRD. 1 Publication
Corresponds to variant rs267607506 [ dbSNP | Ensembl ].
VAR_071533
Natural varianti86 – 861K → E in ALXDRD. 1 Publication
VAR_071534
Natural varianti88 – 881R → C in ALXDRD. 6 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALXDRD. 2 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017470
Natural varianti90 – 901L → P in ALXDRD. 1 Publication
Corresponds to variant rs59661476 [ dbSNP | Ensembl ].
VAR_071535
Natural varianti97 – 971L → P in ALXDRD. 1 Publication
Corresponds to variant rs59568967 [ dbSNP | Ensembl ].
VAR_071536
Natural varianti101 – 1011L → P in ALXDRD. 1 Publication
Corresponds to variant rs267607516 [ dbSNP | Ensembl ].
VAR_071537
Natural varianti115 – 1151V → I.1 Publication
Corresponds to variant rs56746197 [ dbSNP | Ensembl ].
VAR_071538
Natural varianti157 – 1571D → N.1 Publication
Corresponds to variant rs59291670 [ dbSNP | Ensembl ].
VAR_071539
Natural varianti207 – 2071E → K in ALXDRD. 1 Publication
Corresponds to variant rs267607500 [ dbSNP | Ensembl ].
VAR_071540
Natural varianti207 – 2071E → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607500 [ dbSNP | Ensembl ].
VAR_071541
Natural varianti210 – 2101E → K in ALXDRD; affects intermediate filaments formation. 1 Publication
Corresponds to variant rs57661783 [ dbSNP | Ensembl ].
VAR_071542
Natural varianti223 – 2231E → Q.2 Publications
Corresponds to variant rs56679084 [ dbSNP | Ensembl ].
VAR_017478
Natural varianti235 – 2351L → P in ALXDRD. 1 Publication
Corresponds to variant rs60269890 [ dbSNP | Ensembl ].
VAR_071543
Natural varianti236 – 2361K → T in ALXDRD. 1 Publication
Corresponds to variant rs267607525 [ dbSNP | Ensembl ].
VAR_071544
Natural varianti239 – 2391R → C in ALXDRD. 5 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALXDRD. 5 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti239 – 2391R → L in ALXDRD. 1 Publication
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_071545
Natural varianti239 – 2391R → P in ALXDRD. 2 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_071546
Natural varianti242 – 2421Y → D in ALXDRD. 1 Publication
Corresponds to variant rs60551555 [ dbSNP | Ensembl ].
VAR_071547
Natural varianti244 – 2441A → V in ALXDRD; unknown pathological significance; does not affect intermediate filaments formation. 2 Publications
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti253 – 2531A → G in ALXDRD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
Corresponds to variant rs61726470 [ dbSNP | Ensembl ].
VAR_071548
Natural varianti257 – 2571Y → C in ALXDRD; impairs filaments formation. 1 Publication
Corresponds to variant rs267607505 [ dbSNP | Ensembl ].
VAR_071549
Natural varianti258 – 2581R → P in ALXDRD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti267 – 2671A → P in ALXDRD. 1 Publication
VAR_071550
Natural varianti276 – 2761R → L in ALXDRD. 1 Publication
Corresponds to variant rs121909719 [ dbSNP | Ensembl ].
VAR_071551
Natural varianti279 – 2791K → E in ALXDRD. 1 Publication
Corresponds to variant rs58536923 [ dbSNP | Ensembl ].
VAR_071552
Natural varianti295 – 2951D → N.2 Publications
Corresponds to variant rs1126642 [ dbSNP | Ensembl ].
VAR_017479
Natural varianti330 – 3301R → G in ALXDRD; associated with Lys-332. 1 Publication
Corresponds to variant rs267607513 [ dbSNP | Ensembl ].
VAR_071553
Natural varianti332 – 3321E → K in ALXDRD; associated with Gly-330. 1 Publication
Corresponds to variant rs267607514 [ dbSNP | Ensembl ].
VAR_071554
Natural varianti352 – 3521L → P in ALXDRD. 1 Publication
Corresponds to variant rs28932769 [ dbSNP | Ensembl ].
VAR_071555
Natural varianti359 – 3591L → P in ALXDRD. 1 Publication
Corresponds to variant rs267607511 [ dbSNP | Ensembl ].
VAR_071556
Natural varianti359 – 3591L → V in ALXDRD. 1 Publication
Corresponds to variant rs60825166 [ dbSNP | Ensembl ].
VAR_071557
Natural varianti362 – 3621E → D in ALXDRD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti364 – 3641A → P in ALXDRD. 1 Publication
Corresponds to variant rs58645997 [ dbSNP | Ensembl ].
VAR_071558
Natural varianti366 – 3661Y → H in ALXDRD. 1 Publication
Corresponds to variant rs58008462 [ dbSNP | Ensembl ].
VAR_071559
Natural varianti371 – 3711E → Q in ALXDRD. 1 Publication
Corresponds to variant rs267607526 [ dbSNP | Ensembl ].
VAR_071560
Natural varianti371 – 3711E → V in ALXDRD. 1 Publication
Corresponds to variant rs57815192 [ dbSNP | Ensembl ].
VAR_071561
Natural varianti373 – 3731E → D in ALXDRD. 1 Publication
VAR_071562
Natural varianti373 – 3731E → K in ALXDRD. 2 Publications
Corresponds to variant rs58075601 [ dbSNP | Ensembl ].
VAR_071563
Natural varianti373 – 3731E → Q in ALXDRD. 1 Publication
Corresponds to variant rs58075601 [ dbSNP | Ensembl ].
VAR_071564
Natural varianti374 – 3741E → G in ALXDRD. 1 Publication
Corresponds to variant rs59628143 [ dbSNP | Ensembl ].
VAR_071565
Natural varianti374 – 3741E → Q in ALXDRD. 1 Publication
VAR_071566
Natural varianti376 – 3761R → G in ALXDRD. 1 Publication
Corresponds to variant rs267607512 [ dbSNP | Ensembl ].
VAR_071567
Natural varianti385 – 3851S → F in ALXDRD. 1 Publication
VAR_071568
Natural varianti416 – 4161R → W in ALXDRD. 5 Publications
Corresponds to variant rs121909717 [ dbSNP | Ensembl ].
VAR_017476
Isoform 3 (identifier: P14136-3)
Natural varianti426 – 4261T → A.
Natural varianti426 – 4261T → V.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei391 – 43242ETSLD…HKDVM → GQYSRASWEGHWSPAPSSRA CRLLQTGTEDQGKGIQLSLG AFVTLQRS in isoform 2. 1 PublicationVSP_017051Add
BLAST
Alternative sequencei391 – 43242ETSLD…HKDVM → GGKSTKDGENHKVTRYLKSL TIRVIPIQAHQIVNGTPPAR G in isoform 3. 2 PublicationsVSP_017052Add
BLAST

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. Positions 65-204, 229-372.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108938. 77 interactions.
IntActiP14136. 44 interactions.
MINTiMINT-1450103.
STRINGi9606.ENSP00000253408.

PTM databases

iPTMnetiP14136.
PhosphoSiteiP14136.
SwissPalmiP14136.

Polymorphism and mutation databases

BioMutaiGFAP.
DMDMi121135.

2D gel databases

REPRODUCTION-2DPAGEP14136.
UCD-2DPAGEP14136.

Proteomic databases

EPDiP14136.
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.
GeneCardsiGFAP.
GeneReviewsiGFAP.
HGNCiHGNC:4235. GFAP.
HPAiCAB000039.
HPA056030.
MalaCardsiGFAP.
MIMi137780. gene.
203450. phenotype.
neXtProtiNX_P14136.
Orphaneti363717. Alexander disease type I.
363722. Alexander disease type II.
PharmGKBiPA28647.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJXF. Eukaryota.
ENOG410Y9QE. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP14136.
KOiK05640.
OMAiHLQEYQE.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP14136.
TreeFamiTF330122.

Enzyme and pathway databases

ReactomeiR-HSA-1251985. Nuclear signaling by ERBB4.
SIGNORiP14136.

Miscellaneous databases

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

Gene expression databases

BgeeiP14136.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and primary structure of human glial fibrillary acidic protein."
    Reeves S.A., Helman L.J., Allison A., Israel M.A.
    Proc. Natl. Acad. Sci. U.S.A. 86:5178-5182(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Characterization of human cDNA and genomic clones for glial fibrillary acidic protein."
    Brenner M., Lampel K., Nakatani Y., Mill J., Banner C., Mearow K., Dohadwala M., Lipsky R., Freese E.
    Brain Res. Mol. Brain Res. 7:277-286(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes."
    Bongcam-Rudloff E., Nister M., Betsholtz C., Wang J.-L., Stenman G., Huebner K., Croce C.M., Westermark B.
    Cancer Res. 51:1553-1560(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  4. "Human glial fibrillary acidic protein (GFAP): molecular cloning of the complete cDNA sequence and chromosomal localization (chromosome 17) of the GFAP gene."
    Kumanishi T., Usui H., Ichikawa T., Nishiyama A., Katagiri T., Abe S., Yoshida Y., Washiyama K., Kuwano R., Sakimura K.
    Acta Neuropathol. 83:569-578(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. "Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17."
    Isaacs A., Baker M., Wavrant-De Vrieze F., Hutton M.
    Genomics 51:152-154(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASN-295.
  6. Han C., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.
    Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Brain and Thalamus.
  8. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Kidney.
  10. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  12. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  13. "An RNA polymerase II promoter containing sequences upstream and downstream from the RNA startpoint that direct initiation of transcription from the same site."
    Nakatani Y., Brenner M., Freese E.
    Proc. Natl. Acad. Sci. U.S.A. 87:4289-4293(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-76.
  14. Lubec G., Chen W.-Q., Sun Y.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 13-29; 50-63; 96-105; 112-121; 163-173; 189-198; 261-270; 288-300; 331-367 AND 377-390, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Fetal brain cortex.
  15. "Changes in brain gene expression shared by scrapie and Alzheimer disease."
    Duguid J.R., Bohmont C.W., Liu N.G., Tourtellotte W.W.
    Proc. Natl. Acad. Sci. U.S.A. 86:7260-7264(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 352-417.
  16. "A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins."
    Nielsen A.L., Holm I.E., Johansen M.,