Human Gene GFAP (ENST00000588735.3_11) from GENCODE V47lift37
  Description: glial fibrillary acidic protein, transcript variant 1 (from RefSeq NM_002055.5)
Gencode Transcript: ENST00000588735.3_11
Gencode Gene: ENSG00000131095.14_19
Transcript (Including UTRs)
   Position: hg19 chr17:42,980,527-42,992,868 Size: 12,342 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr17:42,984,715-42,992,854 Size: 8,140 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:42,980,527-42,992,868)mRNA (may differ from genome)Protein (432 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GFAP_HUMAN
DESCRIPTION: RecName: Full=Glial fibrillary acidic protein; Short=GFAP;
FUNCTION: 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.
SUBUNIT: Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).
SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with intermediate filaments.
TISSUE SPECIFICITY: Expressed in cells lacking fibronectin.
PTM: Phosphorylated by PKN1.
DISEASE: Defects in GFAP are a cause of Alexander disease (ALEXD) [MIM:203450]. Alexander disease is a rare disorder of the central nervous system. It is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers which are cytoplasmic inclusions in astrocytes. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death usually within the first decade. Infants with Alexander disease develop a leukoencephalopathy 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.
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GFAP";
WEB RESOURCE: Name=Wikipedia; Note=GFAP entry; URL="http://en.wikipedia.org/wiki/Glial_fibrillary_acidic_protein";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GFAP
Diseases sorted by gene-association score: alexander disease* (1723), astroblastoma (33), myxopapillary ependymoma (32), gliomatosis cerebri (32), central neurocytoma (30), oligoastrocytoma (25), pleomorphic xanthoastrocytoma (25), papillary ependymoma (25), tanycytic ependymoma (24), oligodendroglioma (24), chordoid glioma (24), mixed glioma (24), ganglioglioma (23), rhabdoid meningioma (22), parachordoma (22), spinal cancer (20), central nervous system disease (20), subcortical arteriosclerotic encephalopathy (18), desmoplastic infantile ganglioglioma (18), extraventricular neurocytoma (18), suprasellar meningioma (18), preretinal fibrosis (18), malignant glioma (17), gemistocytic astrocytoma (17), spinal cord injury (17), choroid plexus cancer (17), chordoid meningioma (16), gliofibroma (16), medullomyoblastoma (16), frontal convexity meningioma (15), microcystic meningioma (15), cogan syndrome (15), chordoma (15), hemangioblastoma (14), ependymoma (14), astrocytoma (14), lung combined type small cell carcinoma (14), myoepithelial carcinoma (13), dysembryoplastic neuroepithelial tumor (13), malignant ependymoma (13), medulloepithelioma (13), gliomatosis peritonei (13), pleomorphic adenoma (13), chiari malformation (13), anaplastic ganglioglioma (13), clear cell meningioma (12), intracranial cysts (12), tuberous sclerosis (12), cerebellar medulloblastoma (12), atypical teratoid rhabdoid tumor (12), leukoencephalopathy, diffuse hereditary, with spheroids (12), clear cell ependymoma (12), teratoma (11), vitreoretinopathy, neovascular inflammatory (11), temporal lobe epilepsy (11), ependymoblastoma (11), fetal alcohol syndrome (11), primitive neuroectodermal tumor of the cervix uteri (11), syringocystadenoma papilliferum (10), cerebral neuroblastoma (10), choroid plexus papilloma (10), deep leiomyoma (10), cellular ependymoma (10), wernicke encephalopathy (10), subependymal giant cell astrocytoma (10), pilocytic astrocytoma (10), cutaneous leiomyosarcoma (10), gliosarcoma (10), grade iii astrocytoma (10), medulloblastoma (10), benign ependymoma (10), brain meningioma (10), neuroma (10), syringoma (10), traumatic brain injury (10), retinal detachment (9), pineoblastoma (9), neurilemmoma (9), melanotic neuroectodermal tumor (9), neuromyelitis optica (9), optic nerve glioma (9), central nervous system teratoma (9), protoplasmic astrocytoma (8), melanotic medulloblastoma (8), cerebral convexity meningioma (8), cystic teratoma (8), supratentorial cancer (8), cerebrum cancer (8), cerebral ventricle cancer (8), inflammatory mfh (8), scrapie (8), pilomyxoid astrocytoma (8), angiocentric glioma (8), anaplastic ependymoma (8), brain glioma (8), brain cancer (8), spinal cord astrocytoma (7), granular cell tumor (7), perineurioma (7), papillary glioneuronal tumor (7), encephalitis (7), central nervous system germ cell tumor (7), spindle cell rhabdomyosarcoma (7), ganglioneuroma (7), subependymoma (7), status epilepticus (7), brain injury (7), subependymal glioma (7), von economo's disease (7), multiple system atrophy (7), obstructive hydrocephalus (7), cerebral hemorrhage (7), brain ischemia (7), pineocytoma (7), intraventricular meningioma (6), giant cell glioblastoma (6), meningioma, familial (6), mandibular cancer (6), hemimegalencephaly (6), binswanger's disease (6), gangliocytoma (6), childhood oligodendroglioma (6), pineal gland cancer (6), nervous system benign neoplasm (6), cerebellar liponeurocytoma (6), central nervous system primitive neuroectodermal neoplasm (5), nodular medulloblastoma (5), fibrillary astrocytoma (5), integumentary system benign neoplasm (5), hydrocephalus (5), atypical neurofibroma (5), glioblastoma multiforme (5), jaw cancer (5), vitreous disease (5), cerebellopontine angle tumor (5), necrotizing sialometaplasia (5), angiomatous meningioma (5), pneumothorax (5), retinitis pigmentosa 42 (5), testis seminoma (5), plexiform schwannoma (4), brown-sequard syndrome (4), meninges hemangiopericytoma (4), cerebral palsy, ataxic, autosomal recessive (4), cerebral degeneration (4), spinal cord ependymoma (4), juvenile pilocytic astrocytoma (4), adult medulloblastoma (4), dysgerminoma of ovary (4), pancreatic gastrinoma (3), brain germinoma (3), ischemia (3), alzheimer disease (2), neural tube defects (2), multiple sclerosis, disease progression, modifier of (2), amyotrophic lateral sclerosis 1 (2), infratentorial cancer (1), toxic encephalopathy (1), nervous system disease (1), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5347.74 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 16570.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1636.804188-0.391 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS

Pfam Domains:
PF00038 - Intermediate filament protein
PF04732 - Intermediate filament head (DNA binding) region

SCOP Domains:
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments

ModBase Predicted Comparative 3D Structure on P14136
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0042802 identical protein binding

Biological Process:
GO:0009611 response to wounding
GO:0010625 positive regulation of Schwann cell proliferation
GO:0010977 negative regulation of neuron projection development
GO:0014002 astrocyte development
GO:0030198 extracellular matrix organization
GO:0031102 neuron projection regeneration
GO:0043254 regulation of protein complex assembly
GO:0045103 intermediate filament-based process
GO:0045109 intermediate filament organization
GO:0051580 regulation of neurotransmitter uptake
GO:0060020 Bergmann glial cell differentiation
GO:0060252 positive regulation of glial cell proliferation
GO:0060291 long-term synaptic potentiation
GO:1904714 regulation of chaperone-mediated autophagy

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0016020 membrane
GO:0042995 cell projection
GO:0043209 myelin sheath
GO:0044297 cell body
GO:0097386 glial cell projection
GO:0097449 astrocyte projection
GO:0097450 astrocyte end-foot
GO:0098574 cytoplasmic side of lysosomal membrane
GO:0005764 lysosome


-  Descriptions from all associated GenBank mRNAs
  AK098758 - Homo sapiens cDNA FLJ25892 fis, clone CBR03363.
AK098380 - Homo sapiens cDNA FLJ25514 fis, clone CBR06457, highly similar to GLIAL FIBRILLARY ACIDIC PROTEIN, ASTROCYTE.
BC062609 - Homo sapiens glial fibrillary acidic protein, mRNA (cDNA clone IMAGE:5175404), partial cds.
J04569 - Human glial fibrillary acidic protein (GFAP) mRNA, complete cds.
BC013596 - Homo sapiens glial fibrillary acidic protein, mRNA (cDNA clone MGC:17031 IMAGE:4185584), complete cds.
BC041765 - Homo sapiens glial fibrillary acidic protein, mRNA (cDNA clone MGC:21564 IMAGE:4186297), complete cds.
AK222683 - Homo sapiens mRNA for glial fibrillary acidic protein variant, clone: CBR01967.
S40719 - glial fibrillary acidic protein [human, glioma cell line U-251 MG, mRNA, 3033 nt].
AK296259 - Homo sapiens cDNA FLJ55696 complete cds, highly similar to Glial fibrillary acidic protein, astrocyte.
AK303728 - Homo sapiens cDNA FLJ54224 complete cds, highly similar to Glial fibrillary acidic protein, astrocyte.
AF419299 - Homo sapiens glial fibrillary acidic protein (GFAP) mRNA, complete cds.
AK315398 - Homo sapiens cDNA, FLJ96446, Homo sapiens glial fibrillary acidic protein (GFAP), mRNA.
JF432461 - Synthetic construct Homo sapiens clone IMAGE:100073676 glial fibrillary acidic protein (GFAP) gene, encodes complete protein.
KJ891236 - Synthetic construct Homo sapiens clone ccsbBroadEn_00630 GFAP gene, encodes complete protein.
KR709684 - Synthetic construct Homo sapiens clone CCSBHm_00005153 GFAP (GFAP) mRNA, encodes complete protein.
KR709685 - Synthetic construct Homo sapiens clone CCSBHm_00005180 GFAP (GFAP) mRNA, encodes complete protein.
KR709686 - Synthetic construct Homo sapiens clone CCSBHm_00005192 GFAP (GFAP) mRNA, encodes complete protein.
KR709687 - Synthetic construct Homo sapiens clone CCSBHm_00005209 GFAP (GFAP) mRNA, encodes complete protein.
KR712259 - Synthetic construct Homo sapiens clone CCSBHm_00900221 GFAP (GFAP) mRNA, encodes complete protein.
AB463686 - Synthetic construct DNA, clone: pF1KB8220, Homo sapiens GFAP gene for glial fibrillary acidic protein, without stop codon, in Flexi system.
AK128790 - Homo sapiens cDNA FLJ45472 fis, clone BRSTN2016918, highly similar to Glial fibrillary acidic protein, astrocyte.
AL133013 - Homo sapiens mRNA; cDNA DKFZp566O224 (from clone DKFZp566O224).
AK295734 - Homo sapiens cDNA FLJ55068 complete cds, highly similar to Glial fibrillary acidic protein, astrocyte.
AF131813 - Homo sapiens clone 24970 mRNA sequence.
U92979 - Homo sapiens clone DT1P1A4 mRNA, CAG repeat region.
BC012228 - Homo sapiens glial fibrillary acidic protein, mRNA (cDNA clone IMAGE:4149270).
AK124465 - Homo sapiens cDNA FLJ42474 fis, clone BRACE2031154.
JD048339 - Sequence 29363 from Patent EP1572962.
JD424096 - Sequence 405120 from Patent EP1572962.
JD062750 - Sequence 43774 from Patent EP1572962.
JD392040 - Sequence 373064 from Patent EP1572962.
JD525848 - Sequence 506872 from Patent EP1572962.
JD290153 - Sequence 271177 from Patent EP1572962.
JD220344 - Sequence 201368 from Patent EP1572962.
JD316306 - Sequence 297330 from Patent EP1572962.
JD096589 - Sequence 77613 from Patent EP1572962.
JD316021 - Sequence 297045 from Patent EP1572962.
JD217086 - Sequence 198110 from Patent EP1572962.
JD430606 - Sequence 411630 from Patent EP1572962.
JD077093 - Sequence 58117 from Patent EP1572962.
JD123770 - Sequence 104794 from Patent EP1572962.
JD124557 - Sequence 105581 from Patent EP1572962.
JD066078 - Sequence 47102 from Patent EP1572962.
JD485428 - Sequence 466452 from Patent EP1572962.
JD183642 - Sequence 164666 from Patent EP1572962.
JD157035 - Sequence 138059 from Patent EP1572962.
JD116362 - Sequence 97386 from Patent EP1572962.
JD507844 - Sequence 488868 from Patent EP1572962.
JD509532 - Sequence 490556 from Patent EP1572962.
JD507843 - Sequence 488867 from Patent EP1572962.
JD225424 - Sequence 206448 from Patent EP1572962.
JD070628 - Sequence 51652 from Patent EP1572962.
JD151292 - Sequence 132316 from Patent EP1572962.
JD425898 - Sequence 406922 from Patent EP1572962.
JD255755 - Sequence 236779 from Patent EP1572962.
JD212205 - Sequence 193229 from Patent EP1572962.
JD479404 - Sequence 460428 from Patent EP1572962.
JD459575 - Sequence 440599 from Patent EP1572962.
JD045304 - Sequence 26328 from Patent EP1572962.
JD301910 - Sequence 282934 from Patent EP1572962.
JD230744 - Sequence 211768 from Patent EP1572962.
JD268312 - Sequence 249336 from Patent EP1572962.
JD115231 - Sequence 96255 from Patent EP1572962.
JD471197 - Sequence 452221 from Patent EP1572962.
JD471196 - Sequence 452220 from Patent EP1572962.
JD499213 - Sequence 480237 from Patent EP1572962.
JD475389 - Sequence 456413 from Patent EP1572962.
JD123097 - Sequence 104121 from Patent EP1572962.
JD123756 - Sequence 104780 from Patent EP1572962.
JD364262 - Sequence 345286 from Patent EP1572962.
BC127871 - Homo sapiens cDNA clone IMAGE:40134129, partial cds.
JD123755 - Sequence 104779 from Patent EP1572962.
JD115810 - Sequence 96834 from Patent EP1572962.
JD115442 - Sequence 96466 from Patent EP1572962.
JD520395 - Sequence 501419 from Patent EP1572962.
JD508944 - Sequence 489968 from Patent EP1572962.
JD116368 - Sequence 97392 from Patent EP1572962.
M26638 - Human glial fibrillary acidic protein (GFAP) mRNA, partial cds.
DQ979832 - Homo sapiens GFAP kappa mRNA, partial cds, alternatively spliced.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prionPathway - Prion Pathway

Reactome (by CSHL, EBI, and GO)

Protein P14136 (Reactome details) participates in the following event(s):

R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1236394 Signaling by ERBB4
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A7REI1, B2RD44, D3DX59, E9PAX3, ENST00000588735.1, ENST00000588735.2, GFAP_HUMAN, NM_002055, P14136, Q53H98, Q5D055, Q6ZQS3, Q7Z5J6, Q7Z5J7, Q96KS4, Q96P18, Q9UFD0, uc326sxv.1, uc326sxv.2
UCSC ID: ENST00000588735.3_11
RefSeq Accession: NM_002055.5
Protein: P14136 (aka GFAP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GFAP:
alexander (Alexander Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.