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    GPM6A glycoprotein M6A [ Homo sapiens (human) ]

    Gene ID: 2823, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GPM6Aprovided by HGNC
    Official Full Name
    glycoprotein M6Aprovided by HGNC
    Primary source
    HGNC:HGNC:4460
    See related
    Ensembl:ENSG00000150625 MIM:601275; AllianceGenome:HGNC:4460
    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
    M6A; GPM6
    Summary
    Predicted to enable calcium channel activity. Involved in neuron migration and stem cell differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 247.1) and lung (RPKM 8.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See GPM6A in Genome Data Viewer
    Location:
    4q34.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (175632937..176002393, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (178971366..179340845, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (176554088..176923544, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tRNA splicing endonuclease subunit 2 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 20 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:176615671-176616237 Neighboring gene NANOG hESC enhancer GRCh37_chr4:176675181-176675733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22165 Neighboring gene GPM6A divergent transcript Neighboring gene uncharacterized LOC107984113 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:176826984-176827544 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:176896223-176896404 Neighboring gene MARK2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15814 Neighboring gene uncharacterized LOC124900182 Neighboring gene WD repeat domain 17

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypoxia-Induced Neuronal Activity in Glioma Patients Polarizes Microglia by Potentiating RNA m6A Demethylation.
      Title: Hypoxia-Induced Neuronal Activity in Glioma Patients Polarizes Microglia by Potentiating RNA m6A Demethylation.
    2. M6A methylation-regulated autophagy may be a new therapeutic target for intervertebral disc degeneration.
      Title: M6A methylation-regulated autophagy may be a new therapeutic target for intervertebral disc degeneration.
    3. N[6]-methyladenosine regulator YTHDF1 represses the CD8 + T cell-mediated antitumor immunity and ferroptosis in prostate cancer via m[6]A/PD-L1 manner.
      Title: N(6)-methyladenosine regulator YTHDF1 represses the CD8 + T cell-mediated antitumor immunity and ferroptosis in prostate cancer via m(6)A/PD-L1 manner.
    4. Purine anabolism creates therapeutic vulnerability in hepatocellular carcinoma through m 6 A-mediated epitranscriptomic regulation.
      Title: Purine anabolism creates therapeutic vulnerability in hepatocellular carcinoma through m 6 A-mediated epitranscriptomic regulation.
    5. H3K18 lactylation promotes the progression of arsenite-related idiopathic pulmonary fibrosis via YTHDF1/m6A/NREP.
      Title: H3K18 lactylation promotes the progression of arsenite-related idiopathic pulmonary fibrosis via YTHDF1/m6A/NREP.
    6. Comprehensive analysis of FOXM1 immune infiltrates, m6a, glycolysis and ceRNA network in human hepatocellular carcinoma.
      Title: Comprehensive analysis of FOXM1 immune infiltrates, m6a, glycolysis and ceRNA network in human hepatocellular carcinoma.
    7. m[6]A modification and its role in neural development and neurological diseases.
      Title: m(6)A modification and its role in neural development and neurological diseases.
    8. Expression of m[6]A Methylation Regulator in Osteoarthritis and Its Prognostic Markers.
      Title: Expression of m(6)A Methylation Regulator in Osteoarthritis and Its Prognostic Markers.
    9. Fat mass and obesity-associated factor (FTO)-mediated N6-methyladenosine regulates spermatogenesis in an age-dependent manner.
      Title: Fat mass and obesity-associated factor (FTO)-mediated N6-methyladenosine regulates spermatogenesis in an age-dependent manner.
    10. The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m[6] A Methylation.
      Title: The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m(6) A Methylation.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog
    Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein glycoprotein M6A (GPM6A) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural retina development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonal growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular vesicle HDA PubMed 
    is_active_in filopodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuronal membrane glycoprotein M6-a

    NCBI Reference Sequences (RefSeq)

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    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_001261447.2 → NP_001248376.2  neuronal membrane glycoprotein M6-a isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC110794

    2. NM_001261448.2 → NP_001248377.1  neuronal membrane glycoprotein M6-a isoform 4

      See identical proteins and their annotated locations for NP_001248377.1

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Consensus CDS
      CCDS58936.1
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000423984.1, ENST00000515090.5
      Conserved Domains (1) summary
      pfam01275
      Location:7 → 240
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    3. NM_001388090.1 → NP_001375019.1  neuronal membrane glycoprotein M6-a isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Conserved Domains (1) summary
      pfam01275
      Location:2 → 184
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    4. NM_001388091.1 → NP_001375020.1  neuronal membrane glycoprotein M6-a isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC093819
      Conserved Domains (1) summary
      pfam01275
      Location:2 → 184
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    5. NM_005277.5 → NP_005268.1  neuronal membrane glycoprotein M6-a isoform 1

      See identical proteins and their annotated locations for NP_005268.1

      Status: VALIDATED

      Source sequence(s)
      AI609188, BC010461, DA507772, DA915764
      Consensus CDS
      CCDS3824.1
      UniProtKB/Swiss-Prot
      B7Z642, E9PHI5, P51674, Q92602
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000280187.7, ENST00000280187.11
      Conserved Domains (1) summary
      pfam01275
      Location:14 → 247
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    6. NM_201591.3 → NP_963885.1  neuronal membrane glycoprotein M6-a isoform 1

      See identical proteins and their annotated locations for NP_963885.1

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Consensus CDS
      CCDS3824.1
      UniProtKB/Swiss-Prot
      B7Z642, E9PHI5, P51674, Q92602
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000377268.2, ENST00000393658.7
      Conserved Domains (1) summary
      pfam01275
      Location:14 → 247
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    7. NM_201592.3 → NP_963886.1  neuronal membrane glycoprotein M6-a isoform 3

      See identical proteins and their annotated locations for NP_963886.1

      Status: VALIDATED

      Source sequence(s)
      AI609188, AK226176, BC010461, DA507772
      Consensus CDS
      CCDS54822.1
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000421578.1, ENST00000506894.5
      Conserved Domains (1) summary
      pfam01275
      Location:3 → 236
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    RNA

    1. NR_048571.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537, AC110794

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      175632937..176002393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      178971366..179340845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51674.2 GenPept UniProtKB/Swiss-Prot:P51674

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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