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2020-10-26 19:23:07, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_004124               4125 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens glia maturation factor, beta (GMFB), mRNA.
ACCESSION   NM_004124
VERSION     NM_004124.2  GI:31795542
KEYWORDS    RefSeq.
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 4125)
  AUTHORS   Thangavel,R., Stolmeier,D., Yang,X., Anantharam,P. and Zaheer,A.
  TITLE     Expression of glia maturation factor in neuropathological lesions
            of Alzheimer's disease
  JOURNAL   Neuropathol. Appl. Neurobiol. 38 (6), 572-581 (2012)
   PUBMED   22035352
  REMARK    GeneRIF: The distribution of GMF-immunoreactive cells in and around
            amyloid plaques and neurofibrillary tangles suggests involvement of
            GMF in inflammatory responses through reactive glia and a role of
            GMF in Alzheimer disease pathology.
REFERENCE   2  (bases 1 to 4125)
  AUTHORS   Wang,X., Shaffer,J.R., Zeng,Z., Begum,F., Vieira,A.R., Noel,J.,
            Anjomshoaa,I., Cuenco,K.T., Lee,M.K., Beck,J., Boerwinkle,E.,
            Cornelis,M.C., Hu,F.B., Crosslin,D.R., Laurie,C.C., Nelson,S.C.,
            Doheny,K.F., Pugh,E.W., Polk,D.E., Weyant,R.J., Crout,R.,
            McNeil,D.W., Weeks,D.E., Feingold,E. and Marazita,M.L.
  TITLE     Genome-wide association scan of dental caries in the permanent
            dentition
  JOURNAL   BMC Oral Health 12, 57 (2012)
   PUBMED   23259602
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4125)
  AUTHORS   Zaheer,S., Thangavel,R., Sahu,S.K. and Zaheer,A.
  TITLE     Augmented expression of glia maturation factor in Alzheimer's
            disease
  JOURNAL   Neuroscience 194, 227-233 (2011)
   PUBMED   21835226
  REMARK    GeneRIF: GMF co-localizes with amyloid plaques and neurofibrillary
            tangles in Alzheimer brains, implicating significant upregulation
            of GMF expression under conditions of neurodegeneration.
REFERENCE   4  (bases 1 to 4125)
  AUTHORS   Li,Y.L., Ye,F., Cheng,X.D., Hu,Y., Zhou,C.Y., Lu,W.G. and Xie,X.
  TITLE     Identification of glia maturation factor beta as an independent
            prognostic predictor for serous ovarian cancer
  JOURNAL   Eur. J. Cancer 46 (11), 2104-2118 (2010)
   PUBMED   20547056
REFERENCE   5  (bases 1 to 4125)
  AUTHORS   Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R.,
            Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F.,
            Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L.,
            Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M.,
            Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and
            Carracedo,A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816
            (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4125)
  AUTHORS   Asai,K., Fujita,K., Yamamoto,M., Hotta,T., Morikawa,M., Kokubo,M.,
            Moriyama,A. and Kato,T.
  TITLE     Isolation of novel human cDNA (hGMF-gamma) homologous to Glia
            Maturation Factor-beta gene
  JOURNAL   Biochim. Biophys. Acta 1396 (3), 242-244 (1998)
   PUBMED   9545571
REFERENCE   7  (bases 1 to 4125)
  AUTHORS   Lim,R. and Zaheer,A.
  TITLE     In vitro enhancement of p38 mitogen-activated protein kinase
            activity by phosphorylated glia maturation factor
  JOURNAL   J. Biol. Chem. 271 (38), 22953-22956 (1996)
   PUBMED   8798479
REFERENCE   8  (bases 1 to 4125)
  AUTHORS   Zaheer,A. and Lim,R.
  TITLE     In vitro inhibition of MAP kinase (ERK1/ERK2) activity by
            phosphorylated glia maturation factor (GMF)
  JOURNAL   Biochemistry 35 (20), 6283-6288 (1996)
   PUBMED   8639570
REFERENCE   9  (bases 1 to 4125)
  AUTHORS   Lim,R. and Zaheer,A.
  TITLE     Phorbol ester stimulates rapid intracellular phosphorylation of
            glia maturation factor
  JOURNAL   Biochem. Biophys. Res. Commun. 211 (3), 928-934 (1995)
   PUBMED   7598724
REFERENCE   10 (bases 1 to 4125)
  AUTHORS   Kaplan,R., Zaheer,A., Jaye,M. and Lim,R.
  TITLE     Molecular cloning and expression of biologically active human glia
            maturation factor-beta
  JOURNAL   J. Neurochem. 57 (2), 483-490 (1991)
   PUBMED   1712830
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI547506.1, AB001106.1, BG622077.1 and AI342496.1.
            On Jun 17, 2003 this sequence version replaced gi:4758441.
            
            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 :: AB001106.1, BC005359.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               BI547506.1         11-129
            120-1502            AB001106.1         118-1500
            1503-1691           AB001106.1         1502-1690
            1692-1720           AB001106.1         1692-1720
            1721-3500           AB001106.1         1722-3501
            3501-3530           AB001106.1         3503-3532
            3531-3565           AB001106.1         3534-3568
            3566-3600           AB001106.1         3570-3604
            3601-3671           BG622077.1         538-608
            3672-3743           AB001106.1         3676-3747
            3744-4125           AI342496.1         1-382               c
FEATURES             Location/Qualifiers
     source          1..4125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.2"
     gene            1..4125
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /note="glia maturation factor, beta"
                     /db_xref="GeneID:2764"
                     /db_xref="HGNC:4373"
                     /db_xref="MIM:601713"
     exon            1..102
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    52..54
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /note="upstream in-frame stop codon"
     variation       68
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3737314"
     CDS             100..528
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /note="GMF-beta"
                     /codon_start=1
                     /product="glia maturation factor beta"
                     /protein_id="NP_004115.1"
                     /db_xref="GI:4758442"
                     /db_xref="CCDS:CCDS9718.1"
                     /db_xref="GeneID:2764"
                     /db_xref="HGNC:4373"
                     /db_xref="MIM:601713"
                     /translation="
MSESLVVCDVAEDLVEKLRKFRFRKETNNAAIIMKIDKDKRLVVLDEELEGISPDELKDELPERQPRFIVYSYKYQHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNKLVQTAELTKVFEIRNTEDLTEEWLREKLGFFH
"
     misc_feature    124..489
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /note="ADF-homology domain of glia maturation factor beta
                     and related proteins; Region: ADF_GMF-beta_like; cd11283"
                     /db_xref="CDD:200439"
     misc_feature    178..180
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03382"
     misc_feature    178..180
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03402"
     misc_feature    256..258
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[9]
                     /db_xref="HPRD:00277"
     misc_feature    313..315
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01498"
     misc_feature    346..348
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03382"
     misc_feature    order(358..360,385..387)
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="disulfide bridge bond"
     exon            103..199
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     exon            200..249
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     exon            250..299
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     exon            300..382
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     STS             368..500
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /standard_name="STS-M86492"
                     /db_xref="UniSTS:67972"
     exon            383..456
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     exon            457..4125
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /inference="alignment:Splign:1.39.8"
     STS             560..689
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /standard_name="D14S1327"
                     /db_xref="UniSTS:63449"
     STS             676..1409
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /standard_name="Gmfb"
                     /db_xref="UniSTS:534572"
     variation       683
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3208987"
     STS             1269..1384
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /standard_name="RH70723"
                     /db_xref="UniSTS:29254"
     variation       3601
                     /gene="GMFB"
                     /gene_synonym="GMF"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1134761"
ORIGIN      
cgactgggccaggcgccggggcaggaagggaggcggccgccgtgccattcttaaaggcgcccgagtgtaggcgacaggccgctgacggccggaaggaaaatgagtgagtctttggttgtttgtgatgttgccgaagatttagtggaaaagctgagaaagtttcgttttcgcaaagaaacgaacaacgctgctattataatgaagattgacaaggataaacgcctggtggtactggatgaggagcttgagggcatttcaccagatgaacttaaagatgaactacctgaacgacaacctcgcttcattgtgtatagttataaatatcaacatgatgatggaagagtttcatatcctctgtgctttattttctccagtcctgttggatgtaagcctgaacaacagatgatgtatgctggaagtaagaataagctagtccagacagctgaactaaccaaggtatttgaaataagaaataccgaagacctaactgaagaatggttacgtgagaaacttggattttttcactaatgtgaacttctgtgtttctaaagtatttatgtattaacctgaccatactggaatcagacataaatacttatttatgcctaaaaatgcactgttacttacagtttgtttcctgcagtaaagaaaaattcttcatttgtgcaaaatttgaacaaagaggaaatcatcttcatagtaatgaaactttgtaaagtgtttccttatattggtaattgttaggtggactacttttctccagggactttttgcactcttgtgactaatttctataacttatggttcggaatttgttactatttacagacaccattggaaagtggatatattagattgtgagagacaacagttgcctccttttgacaaatactggatattagcagtttatttatgaaaatagcgtattatcacttgtcaaatcattgaaattcatttggggtcaaagacttgagtgacccagtattgagccatgaataatttagtgtaacctgtattacaagtacattgatgaattctgtatcttctttggtttcctgtatctttttaatcaagtctagaaactatgttcatcagtcactcatttttaaggtcgggagttagattttatgatagaattatgactgttagcttttctccttatagcatcttagtcttagaaattggtgggttgtaataatcaagggcttcattccttttatgtcatttctagacagttttgaatctaggttaataacactttatttataaagcacctcaatgtcctgtgaacactaattattttaaatgtgttaatactgtgcctttgatttgttagctttaaagttagtttaagacttttacactgccagtattccacatttggtgaaattaatacttttttaaagggtccaaataaaataattttctaatgtgtatatctgaaatttgtaataaaatcaacttcatattttaaaaattccaactatctgcttgcattggtgaatatatggcagtcgagagttataattttgggtatacttgtggttagttttgtgccataggaaaaaattatcttaaaactttggccatagttaataacattaacacttcaatagcaatcacatcttatatcctaaatgtcagaagatattctgaactggatgcctgaatagttaactaaaccagtcttgttagatgatggtactcttggcataaagcgaggattctgatatttggcatacttgtaaaaacaaatacataagtaaccattgaacattaatttgataataggtctagagactctaaaaactaaccaaacttggtgagtgtattcttatattaagaatatcttagtcatctcaaaactagcaaaatttaaattttggcatgttttccattcatatgttctttgcattttatttttgaggtttctgtgagaagtaaagatagttggaatttttgcgatattgaatagaacatcttctgttcccaacactgtttggcttcactaatttagaagtcaggaagcaatagaaagttggagatgaggaagtgctagagtaggtgtttgttttggttcttggagggaaaagattctttattccaatttccagagagaagagaaaactcacccaggaagtttaaaaattctttaaacaggtattttgatattggagaataacatgcatataattctgtaggaatgcacatgtaatccaagtgagtggagagtgtttttaatgtttttgaatgaaggaaatgaggttttgtttcacctgttttgcagcagtaagagaaactagtgctgcaagaatgtattttttaatgaagttccttattttgtcttgcatgttttagttttgcttatttttaaatttggaggtcctccataatgtcagataatattgacctgccatacgttagcactcttagttccgctactgtctttaacaggagcaaagagctgtgataaaccatgcttttttgagcttgtctgactcctaattaataacatgtttttggcaagacaacagattgaggttagaggatcagtaggacatttttattccatctgtcctatggggaaatttacaaatcccgtgctctaaaatgttctcaaacatttatatagatttccctttcatcttactaaattttgcattgttcttttcaagtatgtttcgtatttactgtctttttttctgccatttcccaaataataactccagatttcataattccagtttttacattccgttatctttctggtacaaccattcccattcagccttaaatctgagtcctttttagcagcaacttttttcctgggatcctccttcgtggtcttctaagtcagtgttagttttgaaatttttggccctgcataagttctgcatagcatctaatgtcaaaatagaaccaactggtaatcacagtattatttagtgtggtttccatgacaacaaaaatacatacgaagaaaacttctcaggttactatgctgaaattccaaaatgtctgagttttgaatagtgatcactttgttctggtattgacgcaattatattaggaaaaaagttggttgactgtttttgtttaattgacttctaaaatgttcaaattgtctagttctaaaagtttactaaatgcctagtgcagttaaacatactcttgtttaagtgtgtgttgctaaattttttactgtcattactaaataatctgtgtggcaaaatgtgtgtcagcacttttccctccttttttatctcctattttcaggagtcaaatgtagccataaactgtatccttgtctgacactttagctaaaaatttccagttaggggagtttattgccaaattaaatttggctgttccccccaacccatatagatattaaggaaggtgtacttaaaaaatgtttggactgcttttaaaacctgagcaatgtcattaatccatatgtggactagtgatgaatagatattttcataagagtttaaatgctgatatttggtggaagtagagagtaactcatattctatcaattcaagtattcttactatggttgctttccctatttgttcaatagactgataatactggaatttatagagtttgagccattacaacttttgtgaggatgtgtttcaaacatttctggacaaatcttattttgtatttctggaagaatgtagtaatcttctagaccgcttaaaaccaatgctcccaagctgaatattcttgagaaatttgtttttattatgccatttgacatttcaaatcagtgctcatatacagtaaacttgtgatagaaattgtattttattgctttttggattataattcatataaatataattacttgaatattgtttgagatcattaacatgccagggcagttcccactgatttagatggtccaagataatctcattcaggaggcttgaaacattaatggtttagtcttgtgaattttaacagttctctgtcatcgtttaacaaaaccaacaactgacacaactccttaagctgtggtttcagtctctgctagttcatattgcatgtttattttggacagtcttttgttaagcatggtgcttgtactggtttaaataaaatgttaacatt
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2764 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
            GeneID:2764 -> Molecular function: GO:0004860 [protein kinase inhibitor activity] evidence: TAS
            GeneID:2764 -> Molecular function: GO:0004871 [signal transducer activity] evidence: TAS
            GeneID:2764 -> Molecular function: GO:0008047 [enzyme activator activity] evidence: TAS
            GeneID:2764 -> Molecular function: GO:0008083 [growth factor activity] evidence: IEA
            GeneID:2764 -> Biological process: GO:0006468 [protein phosphorylation] evidence: TAS
            GeneID:2764 -> Biological process: GO:0006469 [negative regulation of protein kinase activity] evidence: TAS
            GeneID:2764 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
            GeneID:2764 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
            GeneID:2764 -> Biological process: GO:0043085 [positive regulation of catalytic activity] evidence: TAS
            GeneID:2764 -> Cellular component: GO:0005622 [intracellular] evidence: IEA

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