GPNMB glycoprotein nmb [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPNMBprovided by HGNC
Official Full Name: glycoprotein nmbprovided by HGNC
Primary source: HGNC:HGNC:4462
See related: Ensembl:ENSG00000136235 MIM:604368; AllianceGenome:HGNC:4462
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: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (23246775..23275108)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (23383213..23411546)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (23286394..23314727)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis.
Title: Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis.
The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and limits fibrosis by suppressing GPNMB-mediated TGF-beta signaling.
Title: The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and limits fibrosis by suppressing GPNMB-mediated TGF-β signaling.
Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.
Title: Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.
Glycoprotein nonmetastatic melanoma protein B impacts the malignant potential of bladder cancer cells through its hem-immunoreceptor tyrosine-based activation motif.
Title: Glycoprotein nonmetastatic melanoma protein B impacts the malignant potential of bladder cancer cells through its hem-immunoreceptor tyrosine-based activation motif.
Tumor associated microglia/macrophages utilize GPNMB to promote tumor growth and alter immune cell infiltration in glioma.
Title: Tumor associated microglia/macrophages utilize GPNMB to promote tumor growth and alter immune cell infiltration in glioma.
The association between plasma GPNMB and Parkinson's disease and multiple system atrophy.
Title: The association between plasma GPNMB and Parkinson's disease and multiple system atrophy.
HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
Title: HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
Gpnmb silencing protects against hyperoxia-induced acute lung injury by inhibition of mitochondrial-mediated apoptosis.
Title: Gpnmb silencing protects against hyperoxia-induced acute lung injury by inhibition of mitochondrial-mediated apoptosis.
Glycoprotein Non-Metastatic Protein B (GPNMB): The Missing Link Between Lysosomes and Obesity.
Title: Glycoprotein Non-Metastatic Protein B (GPNMB): The Missing Link Between Lysosomes and Obesity.
Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.
Title: Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.

Submit: New GeneRIF Correction See all GeneRIFs (109)

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

Associated conditions

Description	Tests
Amyloidosis, primary localized cutaneous, 3 MedGen: C4554421 OMIM: 617920 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

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
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67817 (e-PCR)
- UniSTS:79887

G54096 (e-PCR)
- UniSTS:109333

SHGC-35439 (e-PCR)
- UniSTS:21547

D8S2279 (e-PCR)
- UniSTS:473907

RH47597 (e-PCR)
- UniSTS:7269

D10S16 (e-PCR)
- UniSTS:155756

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
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
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 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 melanosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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)

NM_001005340.2 → NP_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

A4D155, Q14956, Q6UVX1, Q8N1A1

UniProtKB/TrEMBL

A8K7R3, B2R5R1

Related

ENSP00000371420.2, ENST00000381990.6

Conserved Domains (1) summary

cd00146
Location:256 → 319

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 ...
NM_002510.3 → NP_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/TrEMBL

A8K7R3, B2R5R1

Related

ENSP00000258733.5, ENST00000258733.9

Conserved Domains (1) summary

cd00146
Location:256 → 319

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: 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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

23246775..23275108

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249578.4 → XP_005249635.1 transmembrane glycoprotein NMB isoform X1

UniProtKB/TrEMBL

A8K7R3, B2R5R1

Conserved Domains (1) summary

cd00146
Location:256 → 319

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 ...
XM_017011678.3 → XP_016867167.1 transmembrane glycoprotein NMB isoform X2

UniProtKB/TrEMBL

A8K7R3, B2R5R1
XM_047419776.1 → XP_047275732.1 transmembrane glycoprotein NMB isoform X3

UniProtKB/Swiss-Prot

A4D155, Q14956, Q6UVX1, Q8N1A1

UniProtKB/TrEMBL

A8K7R3, B2R5R1

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

23383213..23411546

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357088.1 → XP_054213063.1 transmembrane glycoprotein NMB isoform X1

UniProtKB/TrEMBL

A8K7R3, B2R5R1
XM_054357089.1 → XP_054213064.1 transmembrane glycoprotein NMB isoform X2

UniProtKB/TrEMBL

A8K7R3, B2R5R1