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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
Note: Associated with intermediate filaments.1 Publication

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471P → L in ALEXD; unknown pathological significance. 1 Publication
Corresponds to variant rs57474185 [ dbSNP | Ensembl ].
VAR_017464
Natural varianti76 – 761L → F in ALEXD. 1 Publication
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
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 varianti79 – 791R → C in ALEXD. 1 Publication
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → H in ALEXD. 2 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti88 – 881R → C in ALEXD. 1 Publication
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALEXD. 1 Publication
VAR_017470
Natural varianti223 – 2231E → Q in ALEXD; adult form. 1 Publication
Corresponds to variant rs56679084 [ dbSNP | Ensembl ].
VAR_017478
Natural varianti239 – 2391R → C in ALEXD. 2 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALEXD. 2 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti244 – 2441A → V in ALEXD. 1 Publication
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti258 – 2581R → P in ALEXD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti362 – 3621E → D in ALEXD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti416 – 4161R → W in ALEXD. 1 Publication
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 – 301Citrulline
Modified residuei36 – 361Citrulline
Modified residuei38 – 381Phosphoserine; by AURKB and ROCK12 Publications
Modified residuei110 – 1101Phosphothreonine By similarity
Modified residuei270 – 2701Citrulline
Modified residuei383 – 3831Phosphothreonine By similarity
Modified residuei406 – 4061Citrulline
Modified residuei416 – 4161Citrulline

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

ArrayExpressiP14136.
BgeeiP14136.
GenevestigatoriP14136.

Organism-specific databases

HPAiCAB000039.
HPA056030.

Interactioni

Subunit structurei

Interacts with SYNM By similarity. Isoform 3 interacts with PSEN1 (via N-terminus).1 Publication

Protein-protein interaction databases

BioGridi108938. 28 interactions.
IntActiP14136. 27 interactions.
MINTiMINT-1450103.

Structurei

3D structure databases

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

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG259463.
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

MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV    50
DFSLAGALNA GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE 100
LNQLRAKEPT KLADVYQAEL RELRLRLDQL TANSARLEVE RDNLAQDLAT 150
VRQKLQDETN LRLEAENNLA AYRQEADEAT LARLDLERKI ESLEEEIRFL 200
RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT QYEAMASSNM 250
HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR 300
GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ 350
DLLNVKLALD IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS 400
EGHLKRNIVV KTVEMRDGEV IKESKQEHKD VM 432
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471P → L in ALEXD; unknown pathological significance. 1 Publication
Corresponds to variant rs57474185 [ dbSNP | Ensembl ].
VAR_017464
Natural varianti76 – 761L → F in ALEXD. 1 Publication
Corresponds to variant rs57120761 [ dbSNP | Ensembl ].
VAR_017465
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 varianti79 – 791R → C in ALEXD. 1 Publication
Corresponds to variant rs59793293 [ dbSNP | Ensembl ].
VAR_017467
Natural varianti79 – 791R → H in ALEXD. 2 Publications
Corresponds to variant rs59285727 [ dbSNP | Ensembl ].
VAR_017468
Natural varianti88 – 881R → C in ALEXD. 1 Publication
Corresponds to variant rs61622935 [ dbSNP | Ensembl ].
VAR_017469
Natural varianti88 – 881R → S in ALEXD. 1 Publication
VAR_017470
Natural varianti223 – 2231E → Q in ALEXD; adult form. 1 Publication
Corresponds to variant rs56679084 [ dbSNP | Ensembl ].
VAR_017478
Natural varianti239 – 2391R → C in ALEXD. 2 Publications
Corresponds to variant rs58064122 [ dbSNP | Ensembl ].
VAR_017471
Natural varianti239 – 2391R → H in ALEXD. 2 Publications
Corresponds to variant rs59565950 [ dbSNP | Ensembl ].
VAR_017472
Natural varianti244 – 2441A → V in ALEXD. 1 Publication
Corresponds to variant rs61497286 [ dbSNP | Ensembl ].
VAR_017473
Natural varianti258 – 2581R → P in ALEXD. 1 Publication
Corresponds to variant rs61726468 [ dbSNP | Ensembl ].
VAR_017474
Natural varianti295 – 2951D → N.2 Publications
Corresponds to variant rs1126642 [ dbSNP | Ensembl ].
VAR_017479
Natural varianti362 – 3621E → D in ALEXD. 1 Publication
Corresponds to variant rs28932768 [ dbSNP | Ensembl ].
VAR_017475
Natural varianti416 – 4161R → W in ALEXD. 1 Publication
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. VSP_017051Add
BLAST
Alternative sequencei391 – 43242ETSLD…HKDVM → GGKSTKDGENHKVTRYLKSL TIRVIPIQAHQIVNGTPPAR G in isoform 3. VSP_017052Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti121 – 1211R → P in CAB61354. 1 Publication
Sequence conflicti146 – 1461Q → H1 Publication
Sequence conflicti151 – 1511V → L1 Publication
Sequence conflicti155 – 1551Missing in CAB61354. 1 Publication
Sequence conflicti158 – 1581E → G in AAL16662. 1 Publication
Sequence conflicti160 – 1601N → K1 Publication
Sequence conflicti166 – 1661E → D1 Publication
Sequence conflicti174 – 1741Q → QQ in CAB61354. 1 Publication
Sequence conflicti258 – 2581R → H1 Publication
Sequence conflicti326 – 3261E → V in BAD96403. 1 Publication
Sequence conflicti334 – 3341E → D1 Publication

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. 28 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.
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

ArrayExpressi P14136.
Bgeei P14136.
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: VARIANTS ALEXD LEU-47; CYS-79; HIS-79; CYS-239; HIS-239; PRO-258 AND TRP-416, VARIANT 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. "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.
  26. "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.
  27. "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 ALEXD GLN-223.

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: September 3, 2014
This is version 158 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

Dasty 3

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