Reactome | UniProt:P14136 GFAP

chain	chain:1-432
checksum	E6C3B3454C3F1250
comment	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.SUBUNIT Interacts with PSEN1 (via N-terminus).INTERACTION Associated with intermediate filaments.ALTERNATIVE PRODUCTS Isoforms differ in the C-terminal region which is encoded by alternative exons.TISSUE SPECIFICITY Expressed in cells lacking fibronectin.PTM Phosphorylated by PKN1.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the intermediate filament family.ONLINE INFORMATION GFAP entry
crossReference	[DatabaseIdentifier:11446999] ENSEMBL:ENSG00000131095 [DatabaseIdentifier:12314269] RefSeq:NP_001124491.1 [DatabaseIdentifier:12314271] RefSeq:NP_001229305.1 [DatabaseIdentifier:12314270] RefSeq:NP_002046.1 [DatabaseIdentifier:12282945] Pharos - Targets:P14136 [DatabaseIdentifier:12241124] PRO:P14136 [DatabaseIdentifier:12163178] PDB:6A9P [DatabaseIdentifier:12137349] Orphanet:GFAP [DatabaseIdentifier:12122625] OpenTargets:ENSG00000131095 [DatabaseIdentifier:11838121] HPA:ENSG00000131095-GFAP [DatabaseIdentifier:11800585] GlyGen:P14136 [DatabaseIdentifier:11785034] GeneCards:GFAP [DatabaseIdentifier:11657366] ENSEMBL:ENST00000588735 [DatabaseIdentifier:11657367] ENSEMBL:ENST00000435360 [DatabaseIdentifier:11657368] ENSEMBL:ENST00000638281 [DatabaseIdentifier:11534669] ENSEMBL:ENSP00000466598 [DatabaseIdentifier:11534667] ENSEMBL:ENSP00000403962 [DatabaseIdentifier:11534668] ENSEMBL:ENSP00000491088
databaseName	UniProt
dbId	55580
description	recommendedName: Glial fibrillary acidic protein shortName: GFAP
displayName	UniProt:P14136 GFAP
geneName	GFAP
identifier	P14136
isSequenceChanged	false
keyword	3D-structure Alternative splicing Citrullination Coiled coil Cytoplasm Direct protein sequencing Disease variant Intermediate filament Leukodystrophy Methylation Phosphoprotein Proteomics identification Reference proteome
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	GFAP
otherIdentifier	11726992_a_at 11726993_a_at 11726994_s_at 11731327_at 11749591_s_at 11749592_x_at 11754748_x_at 11755455_x_at 16845774 16845777 203540_PM_at 203540_at 222197_PM_s_at 222197_s_at 229259_PM_at 229259_at 2670 3759408 3759409 3759411 3759412 3759413 3759414 3759415 3759416 3759417 3759418 3759419 3759420 3759421 3759422 3759423 3759424 3759425 3759426 3759427 3759428 3759429 3759430 3759431 3759432 3759433 3759434 3759435 3759436 3759437 3759438 3759439 3759440 3759441 3759442 3759443 3759444 40185_at 49593_at 49596_g_at 62313_at 75040_at 8016128 82303_at A_23_P66593 A_24_P31165 A_24_P59786 A_24_P623768 A_33_P3335895 GE594616 GE61325 GE845063 GO:0005178 GO:0005198 GO:0005200 GO:0005515 GO:0005737 GO:0005764 GO:0005829 GO:0005856 GO:0005882 GO:0006886 GO:0007010 GO:0010467 GO:0010625 GO:0010977 GO:0014002 GO:0014010 GO:0016020 GO:0019900 GO:0030154 GO:0030198 GO:0031102 GO:0031175 GO:0042802 GO:0042995 GO:0043254 GO:0044297 GO:0045103 GO:0045109 GO:0045111 GO:0048856 GO:0051580 GO:0055085 GO:0060020 GO:0060252 GO:0060291 GO:0070779 GO:0097386 GO:0097449 GO:0097450 GO:0098574 GO:1904714 HMNXSV003020040 HMNXSV003056148 Hs.21258.1.S1_3p_at Hs.286055.3.S1_3p_at ILMN_1697176 PH_hs_0019272 S40719_s_at TC17001587.hg TC17001588.hg TC17002662.hg TC17002663.hg g4503978_3p_at p28557 p6854
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9626054] p-GFAP [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9625195] GFAP [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1253311] GFAP [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000131095] ENSEMBL:ENSG00000131095 GFAP [ReferenceDNASequence:12723238] UCSC:P14136 GFAP [ReferenceDNASequence:12108220] OMIM:137780 GFAP [ReferenceDNASequence:12026451] NCBI Gene:2670 GFAP [ReferenceDNASequence:11942358] Monarch:2670 GFAP [ReferenceDNASequence:11856137] KEGG:hsa:2670 GFAP [ReferenceDNASequence:11816659] HGNC:4235 GFAP [ReferenceDNASequence:11434234] dbSNP Gene:2670 GFAP [ReferenceDNASequence:11409332] CTD Gene:2670 GFAP [ReferenceDNASequence:11397525] COSMIC - genes:GFAP GFAP [ReferenceDNASequence:11312569] BioGPS Gene:2670 GFAP
referenceTranscript	[ReferenceRNASequence:12496341] RefSeq:NM_002055.5 GFAP [ReferenceRNASequence:12496340] RefSeq:NM_001131019.3 GFAP [ReferenceRNASequence:12496342] RefSeq:NM_001242376.3 GFAP
schemaClass	ReferenceGeneProduct
secondaryIdentifier	GFAP_HUMAN A7REI1 B2RD44 D3DX59 E9PAX3 Q53H98 Q5D055 Q6ZQS3 Q7Z5J6 Q7Z5J7 Q96KS4 Q96P18 Q9UFD0
sequenceLength	432
species	[Species:48887] Homo sapiens
stId	uniprot:P14136
url	http://purl.uniprot.org/uniprot/P14136

UniProt:P14136 GFAP Show undefined attributes

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