Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 1, mRNA.
| RefSeq Version | NM_002055.3, 196115280 |
| Length | 3081 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 1, mRNA. |
| Product | glial fibrillary acidic protein isoform 1 |
| Comment | Summary: This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_002046.1 |
| CDS | 61..1359 | Exon (1) | 1..521 | Exon (2) | 1..521 | Exon (3) | 522..582 | Exon (4) | 583..678 | Exon (5) | 679..840 | Exon (6) | 841..966 | Exon (7) | 967..1187 | Exon (8) | 1188..1231 | Exon (9) | 1232..1317 | Exon (10) | 1318..3081 |
| Translation | MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNA
GFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAEL
RELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEAT
LARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLR
GTNESLERQMREQEERHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALD
IEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVSEGHLKRNIVVKTVEMRDGEV
IKESKQEHKDVM
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| Position | Chain | Variation | Link |
| complement(46) | - | g, c | dbSNP:113095913 |
| 156 | + | c, t | dbSNP:60045579 |
| complement(163) | - | t, g | dbSNP:117314318 |
| 200 | + | c, t | dbSNP:57474185 |
| 201 | + | a, g | dbSNP:2229011 |
| 247 | + | a, c | dbSNP:60095124 |
| 268 | + | c, t | dbSNP:60343255 |
| 278 | + | g, t | dbSNP:61060395 |
| 286 | + | c, g, t | dbSNP:57120761 |
| 289 | + | a, t | dbSNP:58732244 |
| 290 | + | a, g | dbSNP:57590980 |
| 294 | + | a, c | dbSNP:121909720 |
| 295 | + | c, g, t | dbSNP:59793293 |
| 296 | + | a, g, t | dbSNP:59285727 |
| 308 | + | a, c | dbSNP:58454592 |
| 319 | + | aagg, gagt | dbSNP:59847528 |
| 320 | + | g, t | dbSNP:60449251 |
| 322 | + | a, c, t | dbSNP:61622935 |
| 329 | + | c, t | dbSNP:59661476 |
| 350 | + | c, t | dbSNP:59568967 |
| complement(402) | - | t, g | dbSNP:115282391 |
| 403 | + | g, t | dbSNP:56746197 |
| 529 | + | a, g | dbSNP:59291670 |
| complement(550) | - | t, c | dbSNP:78616766 |
| 679 | + | a, g | dbSNP:61413430 |
| 688 | + | a, g | dbSNP:57661783 |
| 727 | + | c, g | dbSNP:56679084 |
| 764 | + | c, t | dbSNP:60269890 |
| 775 | + | c, t | dbSNP:58064122 |
| 776 | + | a, c, g, t | dbSNP:59565950 |
| 780 | + | g, t | dbSNP:2229012 |
| 784 | + | g, t | dbSNP:60551555 |
| 791 | + | c, t | dbSNP:61497286 |
| complement(852) | - | g, c | dbSNP:111385451 |
| 887 | + | g, t | dbSNP:121909719 |
| 895 | + | a, g | dbSNP:58536923 |
| complement(918) | - | t, c | dbSNP:2289681 |
| 943 | + | a, g | dbSNP:1126642 |
| complement(1017) | - | t, c | dbSNP:61733890 |
| 1052 | + | c, t | dbSNP:59985777 |
| 1115 | + | c, t | dbSNP:28932769 |
| 1135 | + | c, g | dbSNP:60825166 |
| 1139 | + | a, t | dbSNP:62636501 |
| 1146 | + | c, g | dbSNP:121909718 |
| 1150 | + | c, g | dbSNP:58645997 |
| 1156 | + | c, t | dbSNP:58008462 |
| 1172 | + | a, g | dbSNP:57815192 |
| 1177 | + | a, g | dbSNP:58075601 |
| 1181 | + | a, g | dbSNP:59628143 |
| 1238 | + | g, t | dbSNP:62635764 |
| 1306 | + | c, t | dbSNP:121909717 |
| complement(1375) | - | t, c | dbSNP:113487550 |
| 1387 | + | c, g | dbSNP:11558961 |
| complement(1510..1511) | - | , agc | dbSNP:34579312 |
| complement(1511..1512) | - | , g | dbSNP:35560537 |
| complement(1515..1516) | - | , ggca | dbSNP:72351111 |
| complement(1660) | - | t, c | dbSNP:77201092 |
| complement(1697) | - | g, a | dbSNP:8067254 |
| complement(1872) | - | c, a | dbSNP:78109081 |
| complement(1887) | - | c, a | dbSNP:75079989 |
| complement(1989) | - | t, c | dbSNP:72828813 |
| 2173 | + | a, t | dbSNP:3744470 |
| 2360 | + | a, g | dbSNP:1042329 |
| complement(2373) | - | t, c | dbSNP:113627279 |
| complement(2433) | - | g, a | dbSNP:117405516 |
| 2588 | + | g, t | dbSNP:1803645 |
| 2634 | + | g, t | dbSNP:1803641 |
| complement(2644) | - | g, a | dbSNP:111477608 |
| complement(2743) | - | t, c | dbSNP:77001784 |
| 2802 | + | g, t | dbSNP:1803643 |
| complement(2881) | - | t, g, c, a | dbSNP:17027 |
| 2926 | + | a, g | dbSNP:1042408 |
| 2947..2948 | + | c, t | dbSNP:11558960 |
| 2953 | + | a, t | dbSNP:1803642 |
| 2956 | + | a, g | dbSNP:1042465 |
| 2979 | + | c, t | dbSNP:7049 |
| 2982 | + | c, t | dbSNP:3211430 |
| 3017 | + | c, t | dbSNP:1803644 |
| complement(3047) | - | t, c | dbSNP:80104454 |
| Gene Symbol | GFAP |
| Gene Synonym | FLJ45472 |
| Chromosome | 17 |
| Locus Map | 17q21 |
| All Transcripts | NM_002055 , NM_001131019 |
| Title | Epigenetic regulation of glial fibrillary acidic protein by DNA methylation in human malignant gliomas . |
| Author | Restrepo,A., Smith,C.A., Agnihotri,S., Shekarforoush,M., Kongkham,P.N., Seol,H.J., Northcott,P. and Rutka,J.T. |
| Journal | Neuro-oncology 13 (1), 42-50 (2011) |
| Title | Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia . |
| Author | Martins-de-Souza,D., Maccarrone,G., Wobrock,T., Zerr,I., Gormanns,P., Reckow,S., Falkai,P., Schmitt,A. and Turck,C.W. |
| Journal | J Psychiatr Res 44 (16), 1176-1189 (2010) |
| Title | GFAP and S100B are biomarkers of traumatic brain injury: an observational cohort study . |
| Author | Vos,P.E., Jacobs,B., Andriessen,T.M., Lamers,K.J., Borm,G.F., Beems,T., Edwards,M., Rosmalen,C.F. and Vissers,J.L. |
| Journal | Neurology 75 (20), 1786-1793 (2010) |
| Title | Longterm quiescent cells in the aged human subventricular neurogenic system specifically express GFAP-delta . |
| Author | van den Berge,S.A., Middeldorp,J., Zhang,C.E., Curtis,M.A., Leonard,B.W., Mastroeni,D., Voorn,P., van de Berg,W.D., Huitinga,I. and Hol,E.M. |
| Journal | Aging Cell 9 (3), 313-326 (2010) |
| Title | Withaferin A targets intermediate filaments glial fibrillary acidic protein and vimentin in a model of retinal gliosis . |
| Author | Bargagna-Mohan,P., Paranthan,R.R., Hamza,A., Dimova,N., Trucchi,B., Srinivasan,C., Elliott,G.I., Zhan,C.G., Lau,D.L., Zhu,H., Kasahara,K., Inagaki,M., Cambi,F. and Mohan,R. |
| Journal | J. Biol. Chem. 285 (10), 7657-7669 (2010) |
| Title | Truncation of recombinant vimentin by ompT. Identification of a short motif in the head domain necessary for assembly of type III intermediate filament proteins . |
| Author | Hatzfeld,M., Dodemont,H., Plessmann,U. and Weber,K. |
| Journal | FEBS Lett. 302 (3), 239-242 (1992) |
| Title | Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin . |
| Author | Dawson,S.J. and White,L.A. |
| Journal | J. Infect. 24 (3), 317-320 (1992) |
| Title | Human glial fibrillary acidic protein (GFAP): molecular cloning of the complete cDNA sequence and chromosomal localization (chromosome 17) of the GFAP gene . |
| Author | Kumanishi,T., Usui,H., Ichikawa,T., Nishiyama,A., Katagiri,T., Abe,S., Yoshida,Y., Washiyama,K., Kuwano,R., Sakimura,K. et al. |
| Journal | Acta Neuropathol. 83 (6), 569-578 (1992) |
| Title | Multiple interacting sites regulate astrocyte-specific transcription of the human gene for glial fibrillary acidic protein . |
| Author | Besnard,F., Brenner,M., Nakatani,Y., Chao,R., Purohit,H.J. and Freese,E. |
| Journal | J. Biol. Chem. 266 (28), 18877-18883 (1991) |
| Title | Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes . |
| Author | Bongcam-Rudloff,E., Nister,M., Betsholtz,C., Wang,J.L., Stenman,G., Huebner,K., Croce,C.M. and Westermark,B. |
| Journal | Cancer Res. 51 (5), 1553-1560 (1991) |
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