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    GMFG glia maturation factor gamma [ Homo sapiens (human) ]

    Gene ID: 9535, updated on 7-Dec-2018

    Summary

    Official Symbol
    GMFGprovided by HGNC
    Official Full Name
    glia maturation factor gammaprovided by HGNC
    Primary source
    HGNC:HGNC:4374
    See related
    Ensembl:ENSG00000130755 MIM:604104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GMF-GAMMA
    Expression
    Broad expression in bone marrow (RPKM 133.3), spleen (RPKM 93.4) and 15 other tissues See more
    Orthologs

    Genomic context

    See GMFG in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (39328357..39336086, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39818999..39826726, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene interferon lambda 1 Neighboring gene leucine rich repeat and fibronectin type III domain containing 1 Neighboring gene sterile alpha motif domain containing 4B Neighboring gene RNA, 7SL, cytoplasmic 566, pseudogene Neighboring gene PAF1 homolog, Paf1/RNA polymerase II complex component

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126867

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Arp2/3 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Arp2/3 complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament debranching IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    actin filament debranching IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of Arp2/3 complex-mediated actin nucleation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of actin cytoskeleton reorganization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cortical patch IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glia maturation factor gamma

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301008.1NP_001287937.1  glia maturation factor gamma isoform 2

      See identical proteins and their annotated locations for NP_001287937.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA648706, AV714415, BC080180, BF974742
      Consensus CDS
      CCDS74364.1
      UniProtKB/Swiss-Prot
      O60234
      UniProtKB/TrEMBL
      M0R1D2
      Related
      ENSP00000471786.1, ENST00000601387.5
      Conserved Domains (1) summary
      cd11283
      Location:289
      ADF_GMF-beta_like; ADF-homology domain of glia maturation factor beta and related proteins
    2. NM_004877.4NP_004868.1  glia maturation factor gamma isoform 1

      See identical proteins and their annotated locations for NP_004868.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC080180, BF974742
      Consensus CDS
      CCDS12532.1
      UniProtKB/Swiss-Prot
      O60234
      Related
      ENSP00000472249.1, ENST00000597595.5
      Conserved Domains (1) summary
      cd11283
      Location:9130
      ADF_GMF-beta_like; ADF-homology domain of glia maturation factor beta and related proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      39328357..39336086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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