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

Gene ID: 9535, updated on 11-Apr-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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 133.3), spleen (RPKM 93.4) and 15 other tissues See more
Orthologs
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Genomic context

Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39328359..39336043, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42132630..42140315, complement)
105.20220307 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: 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

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)

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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_001301008.2NP_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_2023_10

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)