GFAP
entrez
2670
canonical
uniprot
P14136
canonical
ensembl
ENSG00000131095
resolver
ensp
ENSP00000253408
resolver
ensp
ENSP00000403962
resolver
ensp
ENSP00000466598
resolver
ensp
ENSP00000491088
resolver
enst
ENST00000253408
resolver
genesymbol
GFAP
resolver
hgnc
HGNC:4235
resolver
uniprot
A0A1X7SBR3
resolver
uniprot
A7REI1
resolver
uniprot
B2RD44
resolver
uniprot
D3DX59
resolver
uniprot
E9PAX3
resolver
uniprot
Q53H98
resolver
uniprot
Q5D055
resolver
uniprot
Q6ZQS3
resolver
uniprot
Q7Z5J6
resolver
uniprot
Q7Z5J7
resolver
uniprot
Q96KS4
resolver
uniprot
Q96P18
resolver
uniprot
Q9UFD0
resolver
uniprot_entry
A0A1X7SBR3_HUMAN
resolver
uniprot_entry
GFAP_HUMAN
resolver
uniprot_sec
A7REI1
resolver
uniprot_sec
B2RD44
resolver
uniprot_sec
D3DX59
resolver
uniprot_sec
E9PAX3
resolver
uniprot_sec
Q53H98
resolver
uniprot_sec
Q5D055
resolver
uniprot_sec
Q6ZQS3
resolver
uniprot_sec
Q7Z5J6
resolver
uniprot_sec
Q7Z5J7
resolver
uniprot_sec
Q96KS4
resolver
uniprot_sec
Q96P18
resolver
uniprot_sec
Q9UFD0
resolver
amino_acid_sequence
MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRTQYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM
uniprot
proteins
disease_involvement
DISEASE: Alexander disease (ALXDRD) [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. {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:11595337, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:12034796, ECO:0000269|PubMed:12581808, ECO:0000269|PubMed:12944715, ECO:0000269|PubMed:12975300, ECO:0000269|PubMed:15030911, ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:17043438, ECO:0000269|PubMed:17805552, ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:17934883, ECO:0000269|PubMed:17960815, ECO:0000269|PubMed:18004641, ECO:0000269|PubMed:18079314, ECO:0000269|PubMed:19412928, ECO:0000269|PubMed:20359319, ECO:0000269|PubMed:21917775, ECO:0000269|PubMed:23364391, ECO:0000269|PubMed:23743246, ECO:0000269|PubMed:24742911}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
49880
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKN1. {ECO:0000269|PubMed:12686604, ECO:0000269|PubMed:9099667, ECO:0000269|PubMed:9175763}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
11138011
uniprot
proteins
pubmed
11567214
uniprot
proteins
pubmed
11595337
uniprot
proteins
pubmed
12034785
uniprot
proteins
pubmed
12034796
uniprot
proteins
pubmed
12058025
uniprot
proteins
pubmed
12581808
uniprot
proteins
pubmed
12686604
uniprot
proteins
pubmed
12837269
uniprot
proteins
pubmed
12944715
uniprot
proteins
pubmed
12975300
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030911
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15732097
uniprot
proteins
pubmed
1636374
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17043438
uniprot
proteins
pubmed
17203480
uniprot
proteins
pubmed
17805552
uniprot
proteins
pubmed
17894839
uniprot
proteins
pubmed
17934883
uniprot
proteins
pubmed
17960815
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18004641
uniprot
proteins
pubmed
18079314
uniprot
proteins
pubmed
1847665
uniprot
proteins
pubmed
19412928
uniprot
proteins
pubmed
20359319
uniprot
proteins
pubmed
2163003
uniprot
proteins
pubmed
21917775
uniprot
proteins
pubmed
23364391
uniprot
proteins
pubmed
2349237
uniprot
proteins
pubmed
23743246
uniprot
proteins
pubmed
23828821
uniprot
proteins
pubmed
24742911
uniprot
proteins
pubmed
2740350
uniprot
proteins
pubmed
2780570
uniprot
proteins
pubmed
9099667
uniprot
proteins
pubmed
9175763
uniprot
proteins
pubmed
9693047
uniprot
proteins
sequence_length
432
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12058025}. Note=Associated with intermediate filaments. {ECO:0000269|PubMed:12058025}.
uniprot
proteins