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

    Gene ID: 9535, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:4374
    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
    Summary
    Predicted to enable Arp2/3 complex binding activity. Predicted to be involved in actin filament debranching and negative regulation of Arp2/3 complex-mediated actin nucleation. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in bone marrow (RPKM 133.3), spleen (RPKM 93.4) and 15 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GMFG in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39328359..39336043, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42132630..42140315, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39818999..39826683, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene interferon lambda 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39798467-39798968 Neighboring gene leucine rich repeat and fibronectin type III domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10597 Neighboring gene sterile alpha motif domain containing 4B Neighboring gene RNA, 7SL, cytoplasmic 566, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39880404-39880535 Neighboring gene PAF1 homolog, Paf1/RNA polymerase II complex component

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126867

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Arp2/3 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament debranching IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glia maturation factor gamma

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301008.2NP_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)
      AV714415, BC080180, BF974742
      Consensus CDS
      CCDS74364.1
      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_001411106.1NP_001398035.1  glia maturation factor gamma isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC011445
      Consensus CDS
      CCDS92613.1
      UniProtKB/TrEMBL
      M0R0C1
      Related
      ENSP00000253054.8, ENST00000253054.12
    3. 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, Q6IB37
      UniProtKB/TrEMBL
      Q8TDZ6
      Related
      ENSP00000472249.1, ENST00000597595.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      39328359..39336043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791808.1 Reference GRCh38.p14 PATCHES

      Range
      108741..116425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42132630..42140315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)