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

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High Level of GMFG Correlated to Poor Clinical Outcome and Promoted Cell Migration and Invasion through EMT Pathway in Triple-Negative Breast Cancer. Zhao Y, et al. Genes (Basel), 2023 May 26. PMID 37372337, Free PMC Article
    2. GMFG (glia maturation factor gamma) inhibits lung cancer growth by activating p53 signaling pathway. Tang H, et al. Bioengineered, 2022 Apr. PMID 35383531, Free PMC Article
    3. The human glia maturation factor-gamma gene: genomic structure and mutation analysis in gliomas with chromosome 19q loss. Peters N, et al. Neurogenetics, 1999 Sep. PMID 10541589
    4. Bioinformatics and survival analysis of glia maturation factor-γ in pan-cancers. Lan A, et al. BMC Cancer, 2021 Apr 17. PMID 33863293, Free PMC Article
    5. Structure and promoter activity of the human glia maturation factor-gamma gene: a TATA-less, GC-rich and bidirectional promoter. Kawai Y, et al. Biochim Biophys Acta, 2003 Feb 20. PMID 12591611

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High Level of GMFG Correlated to Poor Clinical Outcome and Promoted Cell Migration and Invasion through EMT Pathway in Triple-Negative Breast Cancer.
      Title: High Level of GMFG Correlated to Poor Clinical Outcome and Promoted Cell Migration and Invasion through EMT Pathway in Triple-Negative Breast Cancer.
    2. GMFG (glia maturation factor gamma) inhibits lung cancer growth by activating p53 signaling pathway.
      Title: GMFG (glia maturation factor gamma) inhibits lung cancer growth by activating p53 signaling pathway.
    3. RNF144A exerts tumor suppressor function in breast cancer through targeting YY1 for proteasomal degradation to downregulate GMFG expression.
      Title: RNF144A exerts tumor suppressor function in breast cancer through targeting YY1 for proteasomal degradation to downregulate GMFG expression.
    4. Bioinformatics and survival analysis of glia maturation factor-gamma in pan-cancers.
      Title: Bioinformatics and survival analysis of glia maturation factor-γ in pan-cancers.
    5. GMFgamma phosphorylation by c-Abl has an important role in coordinating lamellipodial and focal adhesion dynamics to regulate cell migration
      Title: Phosphorylation of GMFγ by c-Abl Coordinates Lamellipodial and Focal Adhesion Dynamics to Regulate Airway Smooth Muscle Cell Migration.
    6. High GMF-GAMMA expression is associated with colorectal cancer metastasis.
      Title: Expression of glia maturation factor γ is associated with colorectal cancer metastasis and its downregulation suppresses colorectal cancer cell migration and invasion in vitro.
    7. These results indicate that the effects of GMFG on monocyte migration and adhesion probably occur through preventing ubiquitin-mediated proteasome degradation of alpha5beta1-integrin and facilitating effective beta1-integrin recycling back to the plasma membrane.
      Title: Glia Maturation Factor-γ Regulates Monocyte Migration through Modulation of β1-Integrin.
    8. In this study, knockdown of GMF-gamma by RNA interference enhanced actin polymerization and contraction in human airway smooth muscle (HASM) cells and tissues without affecting myosin phosphorylation.
      Title: Glia maturation factor-γ phosphorylation at Tyr-104 regulates actin dynamics and contraction in human airway smooth muscle.
    9. Together, the results suggest that GMFG functions by a mechanism similar to that of other ADF/cofilin family members, displaying a preference for ADP-Arp2/3 complex and undergoing inhibition by phosphorylation of a serine residue near the N terminus.
      Title: Glia maturation factor (GMF) interacts with Arp2/3 complex in a nucleotide state-dependent manner.
    10. our findings suggest that GMFG functions as a negative regulator of TLR4 signaling by facilitating TLR4 endocytic trafficking in macrophages
      Title: Glia maturation factor-γ negatively modulates TLR4 signaling by facilitating TLR4 endocytic trafficking in macrophages.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    glia maturation factor gamma

    NCBI Reference Sequences (RefSeq)

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    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_001301008.2 → NP_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:2 → 89
      ADF_GMF-beta_like; ADF-homology domain of glia maturation factor beta and related proteins

    2. NM_001411106.1 → NP_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_004877.4 → NP_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:9 → 130
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60234.1 GenPept UniProtKB/Swiss-Prot:O60234

    Gene LinkOut

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