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GPNMB glycoprotein nmb [ Homo sapiens (human) ]

Gene ID: 10457, updated on 17-Feb-2019

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

Genomic context

See GPNMB in Genome Data Viewer
Location:
7p15.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (23246697..23275110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23286305..23314729)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene nucleoporin like 2 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3
MedGen: C4554421 OMIM: 617920 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog

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 BioSystems

  • PTK6 promotes HIF1A stabilization, organism-specific biosystem (from REACTOME)
    PTK6 promotes HIF1A stabilization, organism-specific biosystemHBEGF-stimulated formation of EGFR heterodimers with GPNMB triggers PTK6-mediated phosphorylation and stabilization of the hypoxia inducible factor 1 alpha (HIF1A) under normoxic conditions. This pro...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemoattractant activity NAS
Non-traceable Author Statement
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor ligand activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
syndecan binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of T cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron death IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive chemotaxis NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IC
Inferred by Curator
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of tissue remodeling IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome membrane IEA
Inferred from Electronic Annotation
more info
 
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
hematopoietic growth factor inducible neurokinin-1 type
osteoactivin
transmembrane glycoprotein HGFIN

NCBI Reference Sequences (RefSeq)

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_001005340.1NP_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)
    AI952217, BC025297, BC032783, BM750843, BU537639, 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_002510.2NP_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)
    AI952217, BC011595, BC025297, BC032783, BM750843, BU537639, CD105306
    Consensus CDS
    CCDS5380.1
    UniProtKB/Swiss-Prot
    Q14956
    UniProtKB/TrEMBL
    A0A024RA55, Q96F58
    Related
    ENSP00000258733.4, ENST00000258733.8
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    23246697..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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