P14136

※ Protein Information

Tag	Content
UniProt Accession	GFAP_HUMAN; P14136;
Entrez ID	2670
GenBank Protein ID	NM_001131019.2; NM_001242376.1; NM_002055.4;
GenBank Nucleotide ID	NP_001124491.1; NP_001229305.1; NP_002046.1;
Protein Name	Glial fibrillary acidic protein (GFAP)
Gene Name	GFAP
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV DFSLAGALNA 60 GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE LNQLRAKEPT KLADVYQAEL 120 RELRLRLDQL TANSARLEVE RDNLAQDLAT VRQKLQDETN LRLEAENNLA AYRQEADEAT 180 LARLDLERKI ESLEEEIRFL RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT 240 QYEAMASSNM HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR 300 GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ DLLNVKLALD 360 IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS EGHLKRNIVV KTVEMRDGEV 420 IKESKQEHKD VM 433 Fasta Sequence >P14136\|GFAP\|Homo sapiens (Human) MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNAGFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRTQYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM

※ PTM-Disease Association

Num	PTM	Disease	Type	PTM Site	PMID
1	Serine Phosphorylation	Frontotemporal lobar degeneration	U	S13	20886841
1	[Reference]: Using a phosphoserine-13 (pSer13) GFAP monoclonal antibody we show an increase in pSer13 GFAP levels by immunoblot concomitant with increased overall GFAP levels in FTLD cases. These data highlight the utility of combining proteomic and phosphoproteomic strategies to characterize post-mortem human brain tissue.
2	Acetylation	Amyotrophic lateral sclerosis	U	K154	24312501
2	[Reference]: Proteomic analysis reveals differentially regulated protein acetylation in human amyotrophic lateral sclerosis spinal cord.
3	Acetylation	Amyotrophic lateral sclerosis	P	K189	24312501
3	[Reference]: Further analysis indicates six heavily acetylated lysine residues at positions 89, 153, 189, 218, 259 and 331 of GFAP. Immunoprecipitation followed by Western blotting confirms that the larger form of GFAP fragments are acetylated and upregulated in ALS spinal cord. Further studies demonstrate that acetylation of the proteins additional to GFAP is differently regulated, suggesting that acetylation and/or deacetylation play an important role in pathogenesis of ALS.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 15) (view all)	MESH:D038261 ; Alexander Disease MESH:D000690 ; Amyotrophic Lateral Sclerosis MESH:C531617 ; Amyotrophic lateral sclerosis 1 MESH:C537948 ; Ceroid lipofuscinosis, neuronal 1, infantile MESH:D004195 ; Disease Models, Animal MESH:D004827 ; Epilepsy MESH:D005911 ; Gliosis MESH:D006930 ; Hyperalgesia MESH:D020961 ; Lewy Body Disease MESH:D009422 ; Nervous System Diseases MESH:D009471 ; Neuromyelitis Optica MESH:D010300 ; Parkinson Disease MESH:D010523 ; Peripheral Nervous System Diseases MESH:D016137 ; Spina Bifida Cystica MESH:D014277 ; Trigeminal Neuralgia
DisGeNet (Curated) (count: 38) (view all)	C0001973; Alcoholic Intoxication, Chronic C0002736; Amyotrophic Lateral Sclerosis C0005586; Bipolar Disorder C0007758; Cerebellar Ataxia C0011570; Mental Depression C0011581; Depressive disorder C0014544; Epilepsy C0017639; Gliosis C0020255; Hydrocephalus C0020429; Hyperalgesia C0026838; Muscle Spasticity C0027765; nervous system disorder C0027873; Neuromyelitis Optica C0030567; Parkinson Disease C0031117; Peripheral Neuropathy C0036341; Schizophrenia C0036572; Seizures C0037917; Spina Bifida Cystica C0040997; Trigeminal Neuralgia C0041696; Unipolar Depression C0270726; Alexander Disease C0752347; Lewy Body Disease C1269683; Major Depressive Disorder C1806780; Cerebrospinal fluid protein increased above normal C1836550; Loss of developmental milestones C1836830; Developmental regression C1848924; Infantile onset C1850493; Psychomotor regression, progressive C1855009; Psychomotor regression in infants C1855019; Psychomotor regression C1855996; Psychomotor regression beginning in infancy C1856507; Bulbar signs C1857121; Neurodevelopmental regression C1859678; Mental deterioration in childhood C1859896; Progressive macrocephaly C1862939; AMYOTROPHIC LATERAL SCLEROSIS 1 C2931673; Ceroid lipofuscinosis, neuronal 1, infantile C4024930; Diffuse demyelination of the cerebral white matter
GWASdb (count: 3)	rs17629022; Coffee consumption; substance-related disorder rs2070935; Height; Null rs3760379; Glaucoma (primary open-angle); glaucoma

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 17) (view all)	116 PTKLADVYQAELREL dbPAF 13 ITSAARRSYVSSGEM dbPAF 131 RLRLDQLTANSARLE dbPAF 14 TSAARRSYVSSGEMM dbPAF 150 NLAQDLATVRQKLQD dbPAF 17 ARRSYVSSGEMMVGG dbPAF 172 AENNLAAYRQEADEA dbPAF 240 AALKEIRTQYEAMAS dbPAF 242 LKEIRTQYEAMASSN dbPAF 305 SLRGTNESLERQMRE dbPAF 324 HVREAASYQEALARL dbPAF 349 MARHLQEYQDLLNVK dbPAF 38 LGPGTRLSLARMPPP dbPAF 383 RITIPVQTFSNLQIR dbPAF 393 NLQIRETSLDTKSVS dbPAF 7 *MERRRITSAARRSY dbPAF 8 MERRRITSAARRSYV dbPAF

PTM

Modification Sites

Phosphorylation
(count: 17)
(view all)

116       PTKLADVYQAELREL     dbPAF
13        ITSAARRSYVSSGEM     dbPAF
131       RLRLDQLTANSARLE     dbPAF
14        TSAARRSYVSSGEMM     dbPAF
150       NLAQDLATVRQKLQD     dbPAF
17        ARRSYVSSGEMMVGG     dbPAF

※ Protein-Protein Interaction

Network

Interaction

Source

O00255	P14136	HPRD
P02768	P14136	IntAct
P05067	P14136	IntAct
P06493	P14136	HPRD
P12004	P14136	BioGRID
P12931	P14136	HPRD
P14136	P17252	HPRD
P14136	P17480	BioGRID
P14136	P42224	IntAct
P14136	P49768	HPRD
P14136	Q15796	IntAct

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction