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    GPM6B glycoprotein M6B [ Homo sapiens (human) ]

    Gene ID: 2824, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GPM6Bprovided by HGNC
    Official Full Name
    glycoprotein M6Bprovided by HGNC
    Primary source
    HGNC:HGNC:4461
    See related
    Ensembl:ENSG00000046653 MIM:300051; AllianceGenome:HGNC:4461
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M6B
    Summary
    This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in brain (RPKM 225.8) and prostate (RPKM 7.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GPM6B in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13770939..13938638, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13352374..13518889, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13789058..13956757, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20667 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13710181-13710377 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene

    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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    Related articles in PubMed

    1. GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity. He S, et al. Dis Markers, 2020. PMID 33294057, Free PMC Article
    2. Mutation analysis of the M6b gene in patients with Rett syndrome. Narayanan V, et al. Am J Med Genet, 1998 Jun 30. PMID 9674909
    3. Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. Henneke M, et al. Am J Med Genet A, 2004 Jul 15. PMID 15214007
    4. Multiple splice isoforms of proteolipid M6B in neurons and oligodendrocytes. Werner H, et al. Mol Cell Neurosci, 2001 Dec. PMID 11749036
    5. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. Combes P, et al. Neurogenetics, 2006 Mar. PMID 16416265

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity.
      Title: GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell Serotonin Absorptive Capacity.
    2. Findings demonstrate that GPM6B plays a crucial role in SMC differentiation and regulates SMC differentiation through the activation of TGF-beta-Smad2/3 signaling via direct interactions with TbetaRI.
      Title: Glycoprotein M6B Interacts with TβRI to Activate TGF-β-Smad2/3 Signaling and Promote Smooth Muscle Cell Differentiation.
    3. Data indicate that neuronal membrane glycoproteins GPM6A and GPM6B may act as novel oncogenes in the development of lymphoid leukemia.
      Title: Identification of GPM6A and GPM6B as potential new human lymphoid leukemia-associated oncogenes.
    4. Increase in the expression levels of mRNA and protein for the Gpm6B is associated with various types of gynaecological malignancy.
      Title: Vascular marker expression during the development of various types of gynaecological malignancy.
    5. Circulating levels of DR6 and Gpm6B correlate with breast cancer tumor grade.
      Title: Breast carcinoma progression and tumour vascular markers related to apoptotic mechanisms.
    6. Data show the Differences in high resolution melting analysis in promoters of tumor markers neuronal membrane glycoprotein M6-B, melanoma antigen family A12 and immunoglobulin superfamily Fc receptor indicated invasiveness of hepatocellular carcinoma.
      Title: Discovery and validation of DNA hypomethylation biomarkers for liver cancer using HRM-specific probes.
    7. Microarray expression analysis of GPM6B-depleted osteogenic human mesenchymal stem cells revealed significant changes in genes involved in cytoskeleton organization and biogenesis.
      Title: GPM6B regulates osteoblast function and induction of mineralization by controlling cytoskeleton and matrix vesicle release.
    8. Data suggest that M6B regulates serotonin uptake by affecting cellular trafficking of the serotonin transporter.
      Title: Membrane glycoprotein M6B interacts with the human serotonin transporter.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
    10. it is unlikely that mutations in M6B have a role in Pelizaeus-Merzbacher-like syndrome, as examined in eight patients
      Title: Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
    Submit: New GeneRIF Correction

    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)

    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 M6B (GPM6B), which co-localizes with Nef at the cellular perinuclear region and in most of the vesicular compartments 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

    Clone Names

    • MGC17150, MGC54284

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in central nervous system myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extracellular matrix assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of serotonin uptake IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of serotonin uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    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
    		  

    General protein information

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    Preferred Names
    neuronal membrane glycoprotein M6-b
    Names
    protolipid M6B

    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.

    Genomic

    1. NG_011988.1 RefSeqGene

      Range
      126620..172774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001994.3 → NP_001001994.1  neuronal membrane glycoprotein M6-b isoform 4

      See identical proteins and their annotated locations for NP_001001994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate exon structure in the 5' UTR and 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. The encoded protein (isoform 4) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AC003037, CD516484, U45955
      Consensus CDS
      CCDS48084.1
      UniProtKB/TrEMBL
      Q59FD5
      Related
      ENSP00000389915.2, ENST00000454189.7
      Conserved Domains (1) summary
      pfam01275
      Location:3 → 239
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    2. NM_001001995.3 → NP_001001995.1  neuronal membrane glycoprotein M6-b isoform 1

      See identical proteins and their annotated locations for NP_001001995.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (1).
      Source sequence(s)
      AA991690, AC003037, AK095657, AL119977, BC047295, BG532134, BI669888, DA191910
      Consensus CDS
      CCDS35206.1
      UniProtKB/TrEMBL
      Q59FD5
      Related
      ENSP00000316861.4, ENST00000316715.9
      Conserved Domains (1) summary
      pfam01275
      Location:62 → 298
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    3. NM_001001996.3 → NP_001001996.1  neuronal membrane glycoprotein M6-b isoform 2

      See identical proteins and their annotated locations for NP_001001996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC003037, BC047295, DA191910
      Consensus CDS
      CCDS35207.1
      Related
      ENSP00000347258.2, ENST00000355135.6
      Conserved Domains (1) summary
      pfam01275
      Location:62 → 298
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    4. NM_001318729.2 → NP_001305658.1  neuronal membrane glycoprotein M6-b isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate exon structure in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB209525, AC003037, CD516484
      UniProtKB/TrEMBL
      Q59FD5
      Conserved Domains (1) summary
      pfam01275
      Location:3 → 239
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    5. NM_005278.5 → NP_005269.1  neuronal membrane glycoprotein M6-b isoform 3

      See identical proteins and their annotated locations for NP_005269.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC003037, BC008151, DA191910
      Consensus CDS
      CCDS14158.1
      UniProtKB/Swiss-Prot
      O76077, Q13491, Q86X43, Q8N956
      UniProtKB/TrEMBL
      Q59FD5
      Related
      ENSP00000349420.5, ENST00000356942.9
      Conserved Domains (1) summary
      pfam01275
      Location:22 → 258
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      13770939..13938638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545497.3 → XP_011543799.1  neuronal membrane glycoprotein M6-b isoform X1

      See identical proteins and their annotated locations for XP_011543799.1

      UniProtKB/TrEMBL
      Q59FD5
      Conserved Domains (1) summary
      pfam01275
      Location:43 → 279
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    2. XM_017029432.2 → XP_016884921.1  neuronal membrane glycoprotein M6-b isoform X3

      UniProtKB/TrEMBL
      Q59FD5
      Conserved Domains (1) summary
      pfam01275
      Location:43 → 279
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    3. XM_047442007.1 → XP_047297963.1  neuronal membrane glycoprotein M6-b isoform X5

      UniProtKB/TrEMBL
      B7Z613
      Related
      ENSP00000419904.1, ENST00000493677.5

    4. XM_005274489.6 → XP_005274546.1  neuronal membrane glycoprotein M6-b isoform X2

      See identical proteins and their annotated locations for XP_005274546.1

      UniProtKB/TrEMBL
      Q59FD5
      Conserved Domains (1) summary
      pfam01275
      Location:22 → 258
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    5. XM_047442009.1 → XP_047297965.1  neuronal membrane glycoprotein M6-b isoform X4

      Conserved Domains (1) summary
      pfam01275
      Location:1 → 172
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      13352374..13518889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326867.1 → XP_054182842.1  neuronal membrane glycoprotein M6-b isoform X1

    2. XM_054326869.1 → XP_054182844.1  neuronal membrane glycoprotein M6-b isoform X3

    3. XM_054326870.1 → XP_054182845.1  neuronal membrane glycoprotein M6-b isoform X4

    4. XM_054326868.1 → XP_054182843.1  neuronal membrane glycoprotein M6-b isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13491.2 GenPept UniProtKB/Swiss-Prot:Q13491

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