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P14136

- GFAP_HUMAN

UniProt

P14136 - GFAP_HUMAN

Protein

Glial fibrillary acidic protein

Gene

GFAP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 159 (01 Oct 2014)
      Sequence version 1 (01 Jan 1990)
      Previous versions | rss
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    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

    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

    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 ROCK13 Publications
    Modified residuei13 – 131Phosphoserine; by AURKB and ROCK13 Publications
    Modified residuei30 – 301Citrulline1 Publication
    Modified residuei36 – 361Citrulline1 Publication
    Modified residuei38 – 381Phosphoserine; by AURKB and ROCK13 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

    ArrayExpressiP14136.
    BgeeiP14136.
    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. 28 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.
    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

    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 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. 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. 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

    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: October 1, 2014
    This is version 159 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