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    GPNMB glycoprotein nmb [ Homo sapiens (human) ]

    Gene ID: 10457, updated on 25-Nov-2021

    Summary

    Official Symbol
    GPNMBprovided by HGNC
    Official Full Name
    glycoprotein nmbprovided by HGNC
    Primary source
    HGNC:HGNC:4462
    See related
    Ensembl:ENSG00000136235 MIM:604368
    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
    NMB; HGFIN; PLCA3
    Summary
    The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in skin (RPKM 225.4), gall bladder (RPKM 143.5) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GPNMB in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (23246766..23275110)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23286394..23314727)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene nucleoporin 42 Neighboring gene uncharacterized LOC101927890 Neighboring gene mitochondrial assembly of ribosomal large subunit 1 Neighboring gene insulin like growth factor 2 mRNA binding protein 3 Neighboring gene small nucleolar RNA, C/D box 65C

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Amyloidosis, primary localized cutaneous, 3
    MedGen: C4554421 OMIM: 617920 GeneReviews: Not available
    Compare labs
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of transmembrane glycoprotein nmb (GPNMB) in peptide-treated PBMCs PubMed
    Tat tat HIV-1 Tat downregulates the expression of glycoprotein nmb (GPNMB) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chemoattractant activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor ligand activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables syndecan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive chemotaxis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of tissue remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in melanosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    transmembrane glycoprotein NMB
    Names
    glycoprotein (transmembrane) nmb
    glycoprotein nmb-like protein
    glycoprotein nonmetastatic melanoma protein B
    hematopoietic growth factor inducible neurokinin-1 type
    osteoactivin
    transmembrane glycoprotein HGFIN

    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_001005340.2NP_001005340.1  transmembrane glycoprotein NMB isoform a precursor

      See identical proteins and their annotated locations for NP_001005340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC025297, BC032783, BM750843, X76534
      Consensus CDS
      CCDS34610.1
      UniProtKB/Swiss-Prot
      Q14956
      Related
      ENSP00000371420.2, ENST00000381990.6
      Conserved Domains (1) summary
      cd00146
      Location:256319
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    2. NM_002510.3NP_002501.1  transmembrane glycoprotein NMB isoform b precursor

      See identical proteins and their annotated locations for NP_002501.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC011595, BC025297, BC032783, CD105306
      Consensus CDS
      CCDS5380.1
      UniProtKB/Swiss-Prot
      Q14956
      UniProtKB/TrEMBL
      A0A024RA55, Q96F58
      Related
      ENSP00000258733.5, ENST00000258733.9
      Conserved Domains (1) summary
      cd00146
      Location:256319
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      23246766..23275110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011677.2XP_016867166.1  transmembrane glycoprotein NMB isoform X2

    2. XM_017011676.2XP_016867165.1  transmembrane glycoprotein NMB isoform X1

      Related
      ENSP00000497362.1, ENST00000647578.1
    3. XM_005249578.3XP_005249635.1  transmembrane glycoprotein NMB isoform X3

      Conserved Domains (1) summary
      cd00146
      Location:256319
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...
    4. XM_017011678.2XP_016867167.1  transmembrane glycoprotein NMB isoform X4

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