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2025-05-09 16:45:25, 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 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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@meso_cacase at
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