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P14136

- GFAP_HUMAN

UniProt

P14136 - GFAP_HUMAN

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Protein

Glial fibrillary acidic protein

Gene

GFAP

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. astrocyte development Source: Ensembl
  2. Bergmann glial cell differentiation Source: Ensembl
  3. extracellular matrix organization Source: Ensembl
  4. intermediate filament organization Source: Ensembl
  5. long-term synaptic potentiation Source: Ensembl
  6. negative regulation of neuron projection development Source: Ensembl
  7. neuron projection regeneration Source: Ensembl
  8. positive regulation of Schwann cell proliferation Source: Ensembl
  9. regulation of neurotransmitter uptake Source: Ensembl
  10. response to wounding Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_116022. Nuclear signaling by ERBB4.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:4235. GFAP.

Subcellular locationi

Cytoplasm 1 Publication
Note: Associated with intermediate filaments.

GO - Cellular componenti

  1. astrocyte projection Source: Ensembl
  2. cell body Source: Ensembl
  3. cytoplasm Source: MGI
  4. cytosol Source: Reactome
  5. intermediate filament Source: ProtInc
  6. membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament

Pathology & Biotechi

Involvement in diseasei

Alexander disease (ALEXD) [MIM:203450]: A 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.23 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631K → Q in ALEXD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
VAR_071517
Natural varianti66 – 661R → Q in ALEXD. 1 Publication
VAR_071518
Natural varianti70 – 701R → Q in ALEXD. 1 Publication
VAR_071519
Natural varianti70 – 701R → W in ALEXD. 1 Publication
VAR_071520
Natural varianti72 – 721E → K in ALEXD. 1 Publication
VAR_071521
Natural varianti73 – 731M → K in ALEXD. 1 Publication
VAR_071522
Natural varianti73 – 731M → R in ALEXD. 1 Publication
VAR_071523
Natural varianti73 – 731M → T in ALEXD. 1 Publication
VAR_071524
Natural varianti74 – 741M → T in ALEXD. 1 Publication
VAR_071525
Natural varianti76 – 761L → F in ALEXD. 3 Publications
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
Natural varianti76 – 761L → V in ALEXD. 1 Publication
VAR_071526
Natural varianti77 – 771N → K in ALEXD. 1 Publication
VAR_071527
Natural varianti77 – 771N → S in ALEXD. 2 Publications
VAR_071528
Natural varianti77 – 771N → Y in ALEXD. 1 Publication
Corresponds to variant rs58732244 [ dbSNP | Ensembl ].
VAR_017466
Natural varianti78 – 781D → E in ALEXD; adult form. 1 Publication
VAR_017477
Natural varianti78 – 781D → N in ALEXD. 1 Publication
VAR_071529
Natural varianti79 – 791R → C in ALEXD. 5 Publications
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → G in ALEXD. 1 Publication
VAR_071530
Natural varianti79 – 791R → H in ALEXD. 4 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti79 – 791R → L in ALEXD. 2 Publications
VAR_071531
Natural varianti79 – 791R → P in ALEXD. 1 Publication
VAR_071532
Natural varianti83 – 831Y → H in ALEXD. 1 Publication
VAR_071533
Natural varianti86 – 861K → E in ALEXD. 1 Publication
VAR_071534
Natural varianti88 – 881R → C in ALEXD. 6 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALEXD. 2 Publications
VAR_017470
Natural varianti90 – 901L → P in ALEXD. 1 Publication
VAR_071535
Natural varianti97 – 971L → P in ALEXD. 1 Publication
VAR_071536
Natural varianti101 – 1011L → P in ALEXD. 1 Publication
VAR_071537
Natural varianti207 – 2071E → K in ALEXD. 1 Publication
VAR_071540
Natural varianti207 – 2071E → Q in ALEXD. 1 Publication
VAR_071541
Natural varianti210 – 2101E → K in ALEXD; affects intermediate filaments formation. 1 Publication
VAR_071542
Natural varianti235 – 2351L → P in ALEXD. 1 Publication
VAR_071543
Natural varianti236 – 2361K → T in ALEXD. 1 Publication
VAR_071544
Natural varianti239 – 2391R → C in ALEXD AND ALEXD. 4 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALEXD. 5 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti239 – 2391R → L in ALEXD. 1 Publication
VAR_071545
Natural varianti239 – 2391R → P in ALEXD. 2 Publications
VAR_071546
Natural varianti242 – 2421Y → D in ALEXD. 1 Publication
VAR_071547
Natural varianti244 – 2441A → V in ALEXD; unknown pathological significance; does not affect intermediate filaments formation. 2 Publications
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti253 – 2531A → G in ALEXD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
VAR_071548
Natural varianti257 – 2571Y → C in ALEXD; impairs filaments formation. 1 Publication
VAR_071549
Natural varianti258 – 2581R → P in ALEXD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti267 – 2671A → P in ALEXD. 1 Publication
VAR_071550
Natural varianti276 – 2761R → L in ALEXD. 1 Publication
VAR_071551
Natural varianti279 – 2791K → E in ALEXD. 1 Publication
VAR_071552
Natural varianti330 – 3301R → G in ALEXD; associated with Lys-332. 1 Publication
VAR_071553
Natural varianti332 – 3321E → K in ALEXD; associated with Gly-330. 1 Publication
VAR_071554
Natural varianti352 – 3521L → P in ALEXD. 1 Publication
VAR_071555
Natural varianti359 – 3591L → P in ALEXD. 1 Publication
VAR_071556
Natural varianti359 – 3591L → V in ALEXD. 1 Publication
VAR_071557
Natural varianti362 – 3621E → D in ALEXD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti364 – 3641A → P in ALEXD. 1 Publication
VAR_071558
Natural varianti366 – 3661Y → H in ALEXD. 1 Publication
VAR_071559
Natural varianti371 – 3711E → Q in ALEXD. 1 Publication
VAR_071560
Natural varianti371 – 3711E → V in ALEXD. 1 Publication
VAR_071561
Natural varianti373 – 3731E → D in ALEXD. 1 Publication
VAR_071562
Natural varianti373 – 3731E → K in ALEXD. 2 Publications
VAR_071563
Natural varianti373 – 3731E → Q in ALEXD. 1 Publication
VAR_071564
Natural varianti374 – 3741E → G in ALEXD. 1 Publication
VAR_071565
Natural varianti374 – 3741E → Q in ALEXD. 1 Publication
VAR_071566
Natural varianti376 – 3761R → G in ALEXD. 1 Publication
VAR_071567
Natural varianti385 – 3851S → F in ALEXD. 1 Publication
VAR_071568
Natural varianti416 – 4161R → W in ALEXD. 5 Publications
VAR_017476

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

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

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 residuei110 – 1101PhosphothreonineBy similarity
Modified residuei270 – 2701Citrulline1 Publication
Modified residuei383 – 3831PhosphothreonineBy similarity
Modified residuei406 – 4061Citrulline1 Publication
Modified residuei416 – 4161Citrulline1 Publication

Post-translational modificationi

Phosphorylated by PKN1.3 Publications

Keywords - PTMi

Citrullination, Phosphoprotein

Proteomic databases

MaxQBiP14136.
PaxDbiP14136.
PeptideAtlasiP14136.
PRIDEiP14136.

2D gel databases

REPRODUCTION-2DPAGEP14136.
UCD-2DPAGEP14136.

PTM databases

PhosphoSiteiP14136.

Miscellaneous databases

PMAP-CutDBP14136.

Expressioni

Tissue specificityi

Expressed in cells lacking fibronectin.1 Publication

Gene expression databases

BgeeiP14136.
ExpressionAtlasiP14136. baseline.
GenevestigatoriP14136.

Organism-specific databases

HPAiCAB000039.
HPA056030.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108938. 33 interactions.
IntActiP14136. 27 interactions.
MINTiMINT-1450103.

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

eggNOGiNOG259463.
GeneTreeiENSGT00760000118905.
HOVERGENiHBG013015.
InParanoidiP14136.
KOiK05640.
OMAiASSNMQE.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP14136.
TreeFamiTF330122.

Family and domain databases

InterProiIPR027701. GFAP.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF41. PTHR23239:SF41. 1 hit.
PfamiPF00038. 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. Align

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. 1 PublicationCurated
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. 1 PublicationCurated
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 ALEXD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
VAR_071517
Natural varianti66 – 661R → Q in ALEXD. 1 Publication
VAR_071518
Natural varianti70 – 701R → Q in ALEXD. 1 Publication
VAR_071519
Natural varianti70 – 701R → W in ALEXD. 1 Publication
VAR_071520
Natural varianti72 – 721E → K in ALEXD. 1 Publication
VAR_071521
Natural varianti73 – 731M → K in ALEXD. 1 Publication
VAR_071522
Natural varianti73 – 731M → R in ALEXD. 1 Publication
VAR_071523
Natural varianti73 – 731M → T in ALEXD. 1 Publication
VAR_071524
Natural varianti74 – 741M → T in ALEXD. 1 Publication
VAR_071525
Natural varianti76 – 761L → F in ALEXD. 3 Publications
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
Natural varianti76 – 761L → V in ALEXD. 1 Publication
VAR_071526
Natural varianti77 – 771N → K in ALEXD. 1 Publication
VAR_071527
Natural varianti77 – 771N → S in ALEXD. 2 Publications
VAR_071528
Natural varianti77 – 771N → Y in ALEXD. 1 Publication
Corresponds to variant rs58732244 [ dbSNP | Ensembl ].
VAR_017466
Natural varianti78 – 781D → E in ALEXD; adult form. 1 Publication
VAR_017477
Natural varianti78 – 781D → N in ALEXD. 1 Publication
VAR_071529
Natural varianti79 – 791R → C in ALEXD. 5 Publications
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → G in ALEXD. 1 Publication
VAR_071530
Natural varianti79 – 791R → H in ALEXD. 4 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti79 – 791R → L in ALEXD. 2 Publications
VAR_071531
Natural varianti79 – 791R → P in ALEXD. 1 Publication
VAR_071532
Natural varianti83 – 831Y → H in ALEXD. 1 Publication
VAR_071533
Natural varianti86 – 861K → E in ALEXD. 1 Publication
VAR_071534
Natural varianti88 – 881R → C in ALEXD. 6 Publications
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALEXD. 2 Publications
VAR_017470
Natural varianti90 – 901L → P in ALEXD. 1 Publication
VAR_071535
Natural varianti97 – 971L → P in ALEXD. 1 Publication
VAR_071536
Natural varianti101 – 1011L → P in ALEXD. 1 Publication
VAR_071537
Natural varianti115 – 1151V → I.1 Publication
VAR_071538
Natural varianti157 – 1571D → N.1 Publication
VAR_071539
Natural varianti207 – 2071E → K in ALEXD. 1 Publication
VAR_071540
Natural varianti207 – 2071E → Q in ALEXD. 1 Publication
VAR_071541
Natural varianti210 – 2101E → K in ALEXD; affects intermediate filaments formation. 1 Publication
VAR_071542
Natural varianti223 – 2231E → Q.2 Publications
Corresponds to variant rs56679084 [ dbSNP | Ensembl ].
VAR_017478
Natural varianti235 – 2351L → P in ALEXD. 1 Publication
VAR_071543
Natural varianti236 – 2361K → T in ALEXD. 1 Publication
VAR_071544
Natural varianti239 – 2391R → C in ALEXD AND ALEXD. 4 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALEXD. 5 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti239 – 2391R → L in ALEXD. 1 Publication
VAR_071545
Natural varianti239 – 2391R → P in ALEXD. 2 Publications
VAR_071546
Natural varianti242 – 2421Y → D in ALEXD. 1 Publication
VAR_071547
Natural varianti244 – 2441A → V in ALEXD; unknown pathological significance; does not affect intermediate filaments formation. 2 Publications
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti253 – 2531A → G in ALEXD; affects intermediate filaments formation yielding protein aggregates. 1 Publication
VAR_071548
Natural varianti257 – 2571Y → C in ALEXD; impairs filaments formation. 1 Publication
VAR_071549
Natural varianti258 – 2581R → P in ALEXD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti267 – 2671A → P in ALEXD. 1 Publication
VAR_071550
Natural varianti276 – 2761R → L in ALEXD. 1 Publication
VAR_071551
Natural varianti279 – 2791K → E in ALEXD. 1 Publication
VAR_071552
Natural varianti295 – 2951D → N.2 Publications
Corresponds to variant rs1126642 [ dbSNP | Ensembl ].
VAR_017479
Natural varianti330 – 3301R → G in ALEXD; associated with Lys-332. 1 Publication
VAR_071553
Natural varianti332 – 3321E → K in ALEXD; associated with Gly-330. 1 Publication
VAR_071554
Natural varianti352 – 3521L → P in ALEXD. 1 Publication
VAR_071555
Natural varianti359 – 3591L → P in ALEXD. 1 Publication
VAR_071556
Natural varianti359 – 3591L → V in ALEXD. 1 Publication
VAR_071557
Natural varianti362 – 3621E → D in ALEXD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti364 – 3641A → P in ALEXD. 1 Publication
VAR_071558
Natural varianti366 – 3661Y → H in ALEXD. 1 Publication
VAR_071559
Natural varianti371 – 3711E → Q in ALEXD. 1 Publication
VAR_071560
Natural varianti371 – 3711E → V in ALEXD. 1 Publication
VAR_071561
Natural varianti373 – 3731E → D in ALEXD. 1 Publication
VAR_071562
Natural varianti373 – 3731E → K in ALEXD. 2 Publications
VAR_071563
Natural varianti373 – 3731E → Q in ALEXD. 1 Publication
VAR_071564
Natural varianti374 – 3741E → G in ALEXD. 1 Publication
VAR_071565
Natural varianti374 – 3741E → Q in ALEXD. 1 Publication
VAR_071566
Natural varianti376 – 3761R → G in ALEXD. 1 Publication
VAR_071567
Natural varianti385 – 3851S → F in ALEXD. 1 Publication
VAR_071568
Natural varianti416 – 4161R → W in ALEXD. 5 Publications
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:
EMBL
GenBank
DDBJ
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]
uc021tyh.1. human. [P14136-2]

Polymorphism databases

DMDMi121135.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11491.1. [P14136-1 ]
CCDS45708.1. [P14136-3 ]
CCDS59296.1. [P14136-2 ]
PIRi A32936.
T42645.
RefSeqi NP_001124491.1. NM_001131019.2. [P14136-3 ]
NP_001229305.1. NM_001242376.1. [P14136-2 ]
NP_002046.1. NM_002055.4. [P14136-1 ]
UniGenei Hs.514227.

3D structure databases

ProteinModelPortali P14136.
SMRi P14136. Positions 65-204, 229-372.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108938. 33 interactions.
IntActi P14136. 27 interactions.
MINTi MINT-1450103.

PTM databases

PhosphoSitei P14136.

Polymorphism databases

DMDMi 121135.

2D gel databases

REPRODUCTION-2DPAGE P14136.
UCD-2DPAGE P14136.

Proteomic databases

MaxQBi P14136.
PaxDbi P14136.
PeptideAtlasi P14136.
PRIDEi P14136.

Protocols and materials databases

DNASUi 2670.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000253408 ; ENSP00000253408 ; ENSG00000131095 . [P14136-1 ]
ENST00000435360 ; ENSP00000403962 ; ENSG00000131095 . [P14136-3 ]
ENST00000586793 ; ENSP00000468500 ; ENSG00000131095 . [P14136-2 ]
GeneIDi 2670.
KEGGi hsa:2670.
UCSCi uc002ihq.3. human. [P14136-1 ]
uc021tyh.1. human. [P14136-2 ]

Organism-specific databases

CTDi 2670.
GeneCardsi GC17M042982.
GeneReviewsi GFAP.
HGNCi HGNC:4235. GFAP.
HPAi CAB000039.
HPA056030.
MIMi 137780. gene.
203450. phenotype.
neXtProti NX_P14136.
Orphaneti 363717. Alexander disease type I.
363722. Alexander disease type II.
PharmGKBi PA28647.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259463.
GeneTreei ENSGT00760000118905.
HOVERGENi HBG013015.
InParanoidi P14136.
KOi K05640.
OMAi ASSNMQE.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P14136.
TreeFami TF330122.

Enzyme and pathway databases

Reactomei REACT_116022. Nuclear signaling by ERBB4.

Miscellaneous databases

ChiTaRSi GFAP. human.
GeneWikii Glial_fibrillary_acidic_protein.
GenomeRNAii 2670.
NextBioi 10538.
PMAP-CutDB P14136.
PROi P14136.
SOURCEi Search...

Gene expression databases

Bgeei P14136.
ExpressionAtlasi P14136. baseline.
Genevestigatori P14136.

Family and domain databases

InterProi IPR027701. GFAP.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
PTHR23239:SF41. PTHR23239:SF41. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

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., Bonven B., Jorgensen P., Jorgensen A.L.
    J. Biol. Chem. 277:29983-29991(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 391-432 (ISOFORM 3), SUBCELLULAR LOCATION, INTERACTION WITH PSEN1.
    Tissue: Fetal brain.
  17. "Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP."
    Singh R., Nielsen A.L., Johansen M.G., Jorgensen A.L.
    Genomics 82:185-193(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 391-432 (ISOFORM 3), VARIANTS.
    Tissue: Blood.
  18. "Domain-specific phosphorylation of vimentin and glial fibrillary acidic protein by PKN."
    Matsuzawa K., Kosako H., Inagaki N., Shibata H., Mukai H., Ono Y., Amano M., Kaibuchi K., Matsuura Y., Azuma I., Inagaki M.
    Biochem. Biophys. Res. Commun. 234:621-625(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION.
  19. "Phosphorylation of glial fibrillary acidic protein at the same sites by cleavage furrow kinase and Rho-associated kinase."
    Kosako H., Amano M., Yanagida M., Tanabe K., Nishi Y., Kaibuchi K., Inagaki M.
    J. Biol. Chem. 272:10333-10336(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38.
  20. "Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
    Kawajiri A., Yasui Y., Goto H., Tatsuka M., Takahashi M., Nagata K., Inagaki M.
    Mol. Biol. Cell 14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38.
  21. "Identification and Characterization of citrulline-modified brain proteins by combining HCD and CID fragmentation."
    Jin Z., Fu Z., Yang J., Troncosco J., Everett A.D., Van Eyk J.E.
    Proteomics 13:2682-2691(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: CITRULLINATION AT ARG-30; ARG-36; ARG-270; ARG-406 AND ARG-416.
  22. "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease."
    Brenner M., Johnson A.B., Boespflug-Tanguy O., Rodriguez D., Goldman J.E., Messing A.
    Nat. Genet. 27:117-120(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ALEXD, VARIANTS ALEXD CYS-79; HIS-79; CYS-239; HIS-239; PRO-258 AND TRP-416, VARIANTS LEU-47 AND ASN-295.
  23. Cited for: VARIANTS ALEXD PHE-76; TYR-77; HIS-79; CYS-88; SER-88; CYS-239 AND HIS-239.
  24. "A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease."
    Aoki Y., Haginoya K., Munakata M., Yokoyama H., Nishio T., Togashi N., Ito T., Suzuki Y., Kure S., Iinuma K., Brenner M., Matsubara Y.
    Neurosci. Lett. 312:71-74(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD VAL-244.
  25. Cited for: VARIANTS ALEXD ARG-73; GLY-79; CYS-79; HIS-79; CYS-88; CYS-239; ASP-242; LYS-373 AND TRP-416.
  26. "Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene."
    Sawaishi Y., Yano T., Takaku I., Takada G.
    Neurology 58:1541-1543(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD ASP-362.
  27. "Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene."
    Stumpf E., Masson H., Duquette A., Berthelet F., McNabb J., Lortie A., Lesage J., Montplaisir J., Brais B., Cossette P.
    Arch. Neurol. 60:1307-1312(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD GLU-78.
  28. "Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L."
    Shiroma N., Kanazawa N., Kato Z., Shimozawa N., Imamura A., Ito M., Ohtani K., Oka A., Wakabayashi K., Iai M., Sugai K., Sasaki M., Kaga M., Ohta T., Tsujino S.
    Brain Dev. 25:116-121(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD LEU-79.
  29. "A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?"
    Brockmann K., Meins M., Taubert A., Trappe R., Grond M., Hanefeld F.
    Eur. Neurol. 50:100-105(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-223.
  30. "A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P."
    Suzuki Y., Kanazawa N., Takenaka J., Okumura A., Negoro T., Tsujino S.
    Brain Dev. 26:206-208(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD PRO-90.
  31. Cited for: VARIANTS LEU-47; ILE-115; ASN-157 AND GLN-223, VARIANTS ALEXD GLN-63; THR-73; PHE-76; VAL-76; SER-77; CYS-79; CYS-88; PRO-97; LYS-207; GLN-207; LYS-210; PRO-235; CYS-239; HIS-239; PRO-239; VAL-244; GLY-253; GLU-279; PRO-352; VAL-359; PRO-364; HIS-366; LYS-373; GLN-373; GLY-374 AND TRP-416, CHARACTERIZATION OF VARIANTS ALEXD GLN-63; LYS-210; VAL-244 AND GLY-253.
  32. "A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis."
    Lee J.M., Kim A.S., Lee S.J., Cho S.M., Lee D.S., Choi S.M., Kim D.K., Ki C.S., Kim J.W.
    J. Korean Med. Sci. 21:954-957(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD LEU-239.
  33. "Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene."
    Hinttala R., Karttunen V., Karttunen A., Herva R., Uusimaa J., Remes A.M.
    Acta Neuropathol. 114:543-545(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD PRO-267.
  34. Cited for: VARIANTS ALEXD TRP-70; GLN-70; LYS-73; SER-77; CYS-79; PRO-79; CYS-88; HIS-239; PRO-239; PRO-359 AND TRP-416.
  35. "An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein."
    Ohnari K., Yamano M., Uozumi T., Hashimoto T., Tsuji S., Nakagawa M.
    J. Neurol. 254:1390-1394(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD THR-74.
  36. "Clinical and genetic study in Chinese patients with Alexander disease."
    Ye W., Qiang G., Jingmin W., Yanling Y., Xiru W., Yuwu J.
    J. Child Neurol. 23:173-177(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALEXD HIS-83 AND CYS-88.
  37. Cited for: VARIANTS ALEXD GLY-330 AND LYS-332.
  38. "Adult-onset Alexander disease with progressive ataxia and palatal tremor."
    Howard K.L., Hall D.A., Moon M., Agarwal P., Newman E., Brenner M.
    Mov. Disord. 23:118-122(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD CYS-257, CHARACTERIZATION OF VARIANT ALEXD CYS-257.
  39. "Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia."
    Kaneko H., Hirose M., Katada S., Takahashi T., Naruse S., Tsuchiya M., Yoshida T., Nakagawa M., Onodera O., Nishizawa M., Ikeuchi T.
    Mov. Disord. 24:1393-1395(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD PRO-101.
  40. "Adult-onset Alexander disease with typical 'tadpole' brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature."
    Namekawa M., Takiyama Y., Honda J., Shimazaki H., Sakoe K., Nakano I.
    BMC Neurol. 10:21-21(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD LEU-276.
  41. Cited for: VARIANTS ALEXD GLN-66; LYS-72; GLU-86; THR-236; GLN-371; VAL-371 AND GLY-376.
  42. "Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations."
    Zang L., Wang J., Jiang Y., Gu Q., Gao Z., Yang Y., Xiao J., Wu Y.
    J. Hum. Genet. 58:183-188(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALEXD PHE-76; LYS-77; LEU-79; HIS-79; CYS-79; CYS-88; SER-88; CYS-239; HIS-239; ASP-373; GLN-374 AND PHE-385.
  43. "Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement."
    Wada Y., Yanagihara C., Nishimura Y., Namekawa M.
    J. Neurol. Sci. 331:161-164(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD ASN-78.
  44. "Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder."
    Nishri D., Edvardson S., Lev D., Leshinsky-Silver E., Ben-Sira L., Henneke M., Lerman-Sagie T., Blumkin L.
    Eur. J. Paediatr. Neurol. 18:495-501(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALEXD TRP-416.

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: October 29, 2014
This is version 160 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

External Data

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