LOCUS       NM_002055               5501 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens glial fibrillary acidic protein (GFAP), transcript
            variant 1, mRNA.
ACCESSION   NM_002055
VERSION     NM_002055.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5501)
  AUTHORS   Shetty,D., Brahmbhatt,S., Desai,A., Bathla,G., Mohan,S., Gupta,V.,
            Soni,N., Vibhute,P. and Agarwal,A.
  TITLE     Glial Fibrillary Acidic Protein Astrocytopathy: Review of
            Pathogenesis, Imaging Features, and Radiographic Mimics
  JOURNAL   AJNR Am J Neuroradiol 45 (10), 1394-1402 (2024)
   PUBMED   38844367
  REMARK    GeneRIF: Glial Fibrillary Acidic Protein Astrocytopathy: Review of
            Pathogenesis, Imaging Features, and Radiographic Mimics.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5501)
  AUTHORS   Lin,N.H., Jian,W.S., Snider,N. and Perng,M.D.
  TITLE     Glial fibrillary acidic protein is pathologically modified in
            Alexander disease
  JOURNAL   J Biol Chem 300 (7), 107402 (2024)
   PUBMED   38782207
  REMARK    GeneRIF: Glial fibrillary acidic protein is pathologically modified
            in Alexander disease.
REFERENCE   3  (bases 1 to 5501)
  AUTHORS   Chiperi,L.E. and Hutanu,A.
  TITLE     Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in
            Psychomotor Development Dynamics in Patients with Congenital Heart
            Defects after Cardiovascular Surgery
  JOURNAL   Balkan Med J 41 (2), 151-152 (2024)
   PUBMED   38173149
  REMARK    GeneRIF: Glial Fibrillary Acidic Protein: Diagnostic and Prognostic
            Role in Psychomotor Development Dynamics in Patients with
            Congenital Heart Defects after Cardiovascular Surgery.
REFERENCE   4  (bases 1 to 5501)
  AUTHORS   Yin,P., Niu,X., Guan,C., Zhang,Z., Liu,Y., Li,J., Cui,G., Zan,K.
            and Xu,C.
  TITLE     Relationship between increased serum neurofilament light chain and
            glial fibrillary acidic protein levels with non-motor symptoms in
            patients with Parkinson's disease
  JOURNAL   Psychogeriatrics 24 (2), 415-425 (2024)
   PUBMED   38339819
  REMARK    GeneRIF: Relationship between increased serum neurofilament light
            chain and glial fibrillary acidic protein levels with non-motor
            symptoms in patients with Parkinson's disease.
REFERENCE   5  (bases 1 to 5501)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 5501)
  AUTHORS   Srivastava,S., Waldman,A. and Naidu,S.
  TITLE     Alexander Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301351
REFERENCE   7  (bases 1 to 5501)
  AUTHORS   Hatzfeld,M., Dodemont,H., Plessmann,U. and Weber,K.
  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
  JOURNAL   FEBS Lett 302 (3), 239-242 (1992)
   PUBMED   1601131
REFERENCE   8  (bases 1 to 5501)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 5501)
  AUTHORS   Kumanishi,T., Usui,H., Ichikawa,T., Nishiyama,A., Katagiri,T.,
            Abe,S., Yoshida,Y., Washiyama,K., Kuwano,R., Sakimura,K. et al.
  TITLE     Human glial fibrillary acidic protein (GFAP): molecular cloning of
            the complete cDNA sequence and chromosomal localization (chromosome
            17) of the GFAP gene
  JOURNAL   Acta Neuropathol 83 (6), 569-578 (1992)
   PUBMED   1636374
REFERENCE   10 (bases 1 to 5501)
  AUTHORS   Bongcam-Rudloff,E., Nister,M., Betsholtz,C., Wang,J.L., Stenman,G.,
            Huebner,K., Croce,C.M. and Westermark,B.
  TITLE     Human glial fibrillary acidic protein: complementary DNA cloning,
            chromosome localization, and messenger RNA expression in human
            glioma cell lines of various phenotypes
  JOURNAL   Cancer Res 51 (5), 1553-1560 (1991)
   PUBMED   1847665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA254392.1, BC013596.1,
            J04569.1, AC015936.14 and BF341765.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002055.4.
            
            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, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes a predominant isoform (1, also known as
            alpha).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.105676.1,
                                           SRR1660807.9743.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588735.3/ ENSP00000466598.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA254392.1         53-64
            13-1340             BC013596.1         1-1328
            1341-1555           J04569.1           1330-1544
            1556-2126           BC013596.1         1544-2114
            2127-2969           AC015936.14        80012-80854         c
            2970-3034           BF341765.1         315-379
            3035-5501           AC015936.14        77480-79946         c
FEATURES             Location/Qualifiers
     source          1..5501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..5501
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="glial fibrillary acidic protein"
                     /db_xref="GeneID:2670"
                     /db_xref="HGNC:HGNC:4235"
                     /db_xref="MIM:137780"
     exon            1..475
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1313
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="glial fibrillary acidic protein isoform 1"
                     /protein_id="NP_002046.1"
                     /db_xref="CCDS:CCDS11491.1"
                     /db_xref="GeneID:2670"
                     /db_xref="HGNC:HGNC:4235"
                     /db_xref="MIM:137780"
                     /translation="MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPP
                     PLPTRVDFSLAGALNAGFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELN
                     QLRAKEPTKLADVYQAELRELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETN
                     LRLEAENNLAAYRQEADEATLARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQ
                     QVHVELDVAKPDLTAALKEIRTQYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLR
                     QAKHEANDYRRQLQSLTCDLESLRGTNESLERQMREQEERHVREAASYQEALARLEEE
                     GQSLKDEMARHLQEYQDLLNVKLALDIEIATYRKLLEGEENRITIPVQTFSNLQIRET
                     SLDTKSVSEGHLKRNIVVKTVEMRDGEVIKESKQEHKDVM"
     exon            476..536
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            537..632
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            633..794
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            795..920
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1141
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1185
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1271
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..5501
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3006..3011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="hexamer: AATAAA"
     polyA_site      3034
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="major polyA site"
     regulatory      5430..5435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="hexamer: TATAAA"
     polyA_site      5449
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
     regulatory      5475..5480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
                     /note="hexamer: CATAAA"
     polyA_site      5501
                     /gene="GFAP"
                     /gene_synonym="ALXDRD"
ORIGIN      
        1 agagccagag caggatggag aggagacgca tcacctccgc tgctcgccgc tcctacgtct
       61 cctcagggga gatgatggtg gggggcctgg ctcctggccg ccgtctgggt cctggcaccc
      121 gcctctccct ggctcgaatg ccccctccac tcccgacccg ggtggatttc tccctggctg
      181 gggcactcaa tgctggcttc aaggagaccc gggccagtga gcgggcagag atgatggagc
      241 tcaatgaccg ctttgccagc tacatcgaga aggttcgctt cctggaacag caaaacaagg
      301 cgctggctgc tgagctgaac cagctgcggg ccaaggagcc caccaagctg gcagacgtct
      361 accaggctga gctgcgagag ctgcggctgc ggctcgatca actcaccgcc aacagcgccc
      421 ggctggaggt tgagagggac aatctggcac aggacctggc cactgtgagg cagaagctcc
      481 aggatgaaac caacctgagg ctggaagccg agaacaacct ggctgcctat agacaggaag
      541 cagatgaagc caccctggcc cgtctggatc tggagaggaa gattgagtcg ctggaggagg
      601 agatccggtt cttgaggaag atccacgagg aggaggttcg ggaactccag gagcagctgg
      661 cccgacagca ggtccatgtg gagcttgacg tggccaagcc agacctcacc gcagccctga
      721 aagagatccg cacgcagtat gaggcaatgg cgtccagcaa catgcatgaa gccgaagagt
      781 ggtaccgctc caagtttgca gacctgacag acgctgctgc ccgcaacgcg gagctgctcc
      841 gccaggccaa gcacgaagcc aacgactacc ggcgccagtt gcagtccttg acctgcgacc
      901 tggagtctct gcgcggcacg aacgagtccc tggagaggca gatgcgcgag caggaggagc
      961 ggcacgtgcg ggaggcggcc agttatcagg aggcgctggc gcggctggag gaagaggggc
     1021 agagcctcaa ggacgagatg gcccgccact tgcaggagta ccaggacctg ctcaatgtca
     1081 agctggccct ggacatcgag atcgccacct acaggaagct gctagagggc gaggagaacc
     1141 ggatcaccat tcccgtgcag accttctcca acctgcagat tcgagaaacc agcctggaca
     1201 ccaagtctgt gtcagaaggc cacctcaaga ggaacatcgt ggtgaagacc gtggagatgc
     1261 gggatggaga ggtcattaag gagtccaagc aggagcacaa ggatgtgatg tgaggcagga
     1321 cccacctggt ggcctctgcc ccgtctcatg aggggcccga gcagaagcag gatagttgct
     1381 ccgcctctgc tggcacattt ccccagacct gagctcccca ccaccccagc tgctcccctc
     1441 cctcctctgt ccctaggtca gcttgctgcc ctaggctccg tcagtatcag gcctgccaga
     1501 cggcacccac ccagcaccca gcaactccaa ctaacaagaa actcaccccc aaggggcagt
     1561 ctggaggggc atggccagca gcttgcgtta gaatgaggag gaaggagaga aggggaggag
     1621 ggcggggggc acctactaca tcgccctcca catccctgat tcctgttgtt atggaaactg
     1681 ttgccagaga tggaggttct ctcggagtat ctgggaactg tgcctttgag tttcctcagg
     1741 ctgctggagg aaaactgaga ctcagacagg aaagggaagg ccccacagac aaggtagccc
     1801 tggccagagg cttgttttgt cttttggttt ttatgaggtg ggatatccct atgctgccta
     1861 ggctgacctt gaactcctgg gctcaagcag tctacccacc tcagcctcct gtgtagctgg
     1921 gattatagat tggagccacc atgcccagct cagagggttg ttctcctaga ctgaccctga
     1981 tcagtctaag atgggtgggg acgtcctgcc acctggggca gtcacctgcc cagatcccag
     2041 aaggacctcc tgagcgatga ctcaagtgtc tcagtccacc tgagctgcca tccagggatg
     2101 ccatctgtgg gcacgctgtg ggcaggtggg agcttgattc tcagcacttg ggggatctgt
     2161 tgtgtacgtg gagagggatg aggtgctggg agggatagag gggggctgcc tggcccccag
     2221 ctgtgggtac agagaggtca agcccaggag gactgccccg tgcagactgg aggggacgct
     2281 ggtagagatg gaggaggagg caattgggat ggcgctaggc atacaagtag gggttgtggg
     2341 tgaccagttg cacttggcct ctggattgtg ggaattaagg aagtgactca tcctcttgaa
     2401 gatgctgaaa caggagagaa aggggatgta tccatggggg cagggcatga ctttgtccca
     2461 tttctaaagg cctcttcctt gctgtgtcat accaggccgc cccagcctct gagcccctgg
     2521 gactgctgct tcttaacccc agtaagccac tgccacacgt ctgaccctct ccaccccata
     2581 gtgaccggct gcttttccct aagccaaggg cctcttgcgg tcccttctta ctcacacaca
     2641 aaatgtaccc agtattctag gtagtgccct attttacaat tgtaaaactg aggcacgagc
     2701 aaagtgaaga cactggctca tattcctgca gcctggaggc cgggtgctca gggctgacac
     2761 gtccacccca gtgcacccac tctgctttga ctgagcagac tggtgagcag actggtggga
     2821 tctgtgccca gagatgggac tgggagggcc cacttcaggg ttctcctctc ccctctaagg
     2881 ccgaagaagg gtccttccct ctccccaaga cttggtgtcc tttccctcca ctccttcctg
     2941 ccacctgctg ctgctgctgc tgctaatctt cagggcactg ctgctgcctt tagtcgctga
     3001 ggaaaaataa agacaaatgc tgcgcccttc cccagagtgg actctgatct gttcatgaga
     3061 gggcgggact ggggccaaga tgtagccttt gacaagacca actcatttct tattactgat
     3121 catctctggg gcccatgccc tcaccaaatt ccacccgcag ccaaagagga catacaccag
     3181 ctccctccac tcttttcttc cttcctctcc ctgctacctg caactcaacc agcacaatct
     3241 tcataggcaa gaaagcaaag cagctcaaac atgattcaac actgatcagt gtttaccact
     3301 ggataaatct gagttcacac tttccttctc tgacctaaat gtgaagtcag gaaacacatg
     3361 tgccctactt ccatcctgag ctcagtcccc aatctcccac cagcctcagg cccctccact
     3421 tctcagatca ggtcccagac ctgcccatga aaatggggag caggctgtaa cagatttgtc
     3481 cacatgttcc taccacctgt cccaacccag ggtacccacc cagagacatc tggtatcatt
     3541 taacaaacac attgaaggac aactggtctt cagagctgaa gagagctcct agggggagaa
     3601 gctgggacaa cagtgaaata agtagcagca gcaacgacag aagtgaatgg tgacaaagac
     3661 tgctgtgatg agcaggtagc ctatcagggt gagctccaca gccgagcgag tctcaggatc
     3721 tgagaacgag gctgggtagt gcccatgaga tgtcacaccc agccggaagc cagcaactag
     3781 cacaccctgc ctccagcaat agtagatgcc ccggtcatcc agctgggtga agcggatgtg
     3841 gagctggttg ccgtggtcaa tgaacaccct catggacctg ttgacaccct tcaggtactg
     3901 tgtgcggtag aggtgctggc ggtctttgtc ccaggccact gcatgctctg gccgggcccc
     3961 aggacaggag atgatgagtc catggcccag tctctgctgg tggaactgaa tgggcacctg
     4021 gggcacccag ggccggctgc ccactttgga cacatagtta atgatggcca gcacgccctc
     4081 ccggatggtc tttgtcttct cacagggtac taagcagctc cgaaccagca cctcaggcgt
     4141 gtggtccctg gccttggtcc gcagcttcct tggcacagcc cttgagccac aagacaccac
     4201 atcgggcacg gccttgaggt agcgtgggga gaggtctggg ctctgcaggt agcagaggcc
     4261 gatgcgccac tgctccccac gcactccgca gcggtcacag ggggtccatt cccagaaggt
     4321 ggtgaagaca tggaggtgcc catagtattc atctgcaaag ggctcctggc ccttgtcctg
     4381 gaaagtggcc accattccct cactgttctg gatgtccaca tcgtaggcgt aaaagtagtc
     4441 ccccttgcgg gtgccgcaga agtacaggcc tgagtcctca gactgagccc tgaaaaccaa
     4501 caagctgaac atgcggatgc tgaagcgggt cagcatgtcg ctgcccacac gtacctgggc
     4561 tgcctccgtc agcacccgcc catcaaagtc cgtcagcact ttggtgtggc tgctacctag
     4621 gtgcttttgg tagaaccaga ctacagctgg cacctcttcg ggtttgcagt gacagggaag
     4681 ctcaaagctc atgtcggcca ggtaggctgc attttcaaac atcaggaaag cagggcaggg
     4741 ggtcctctga aaaatgtttt ccttctccac aatttcaaag gcctggagcc cccatgccca
     4801 caggagcaca gtggtgaggg ccaggtgcat acctgaagga ggcaggggtc agaggggcag
     4861 ggcaaaacca gggcattaaa ggctcatagg gctcctagaa agctctgcta agcggaagcc
     4921 tctagatgag gaaaggatta tgcagccagg aaaagcagca acaatctgca gaggaagccg
     4981 ccaagtgcaa ggcaatttat tcccagtgga tgtacaagat gcccttctaa cattccagac
     5041 ctgatctcag ggtggggggg gaaagccatt ctagaacctg gcctttactc ccctttctag
     5101 aacactggcg ctcacccaag aatgggtcaa aggaaaccgg aatgagaagg gcgggccgag
     5161 gtgctcgggc agggagatct ctgcctcagt gctccaggcc ctgccctgcc agcctggtgg
     5221 aaaagtcttt catcaacctg ggggatgaag gaaacccacc ctcctgcata tctggccatc
     5281 cgggaggctg gctggacctg agctgatggc ttgggacttt cccaggccca acctgcacaa
     5341 gaactgagtc tctaggggaa aattcaacac ctcaaatgat gtagtatttg atcatttgtt
     5401 gattacatgt ccattcattg gtttggggct ataaacattc ttgttaagag ctgtggagat
     5461 cagtgtttgt ttaccataaa gattttgctt tttccctttt a
//
