• Gene id: 10457

Gene Summary

• Gene Symbol: GPNMB   Gene   UCSC   Ensembl
• Aliases: HGFIN, NMB, PLCA3
• Gene name: glycoprotein nmb
• Alternate names: transmembrane glycoprotein NMB, 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, osteoact,
• Gene location: 7p15.3 (23246765: 23275109)     Exons: 12     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 604368

Protein Summary

• Protein general information: Q14956  
  • Name: Transmembrane glycoprotein NMB (Hematopoietic growth factor inducible neurokinin 1 type)
  • Length: 572  
  • Mass: 63923
  • Tissue specificity: Widely expressed, but very low expression, if any, in the brain (PubMed
• Sequence:

  MECLYYFLGFLLLAARLPLDAAKRFHDVLGNERPSAYMREHNQLNGWSSDENDWNEKLYPVWKRGDMRWKNSWKG
  GRVQAVLTSDSPALVGSNITFAVNLIFPRCQKEDANGNIVYEKNCRNEAGLSADPYVYNWTAWSEDSDGENGTGQ
  SHHNVFPDGKPFPHHPGWRRWNFIYVFHTLGQYFQKLGRCSVRVSVNTANVTLGPQLMEVTVYRRHGRAYVPIAQ
  VKDVYVVTDQIPVFVTMFQKNDRNSSDETFLKDLPIMFDVLIHDPSHFLNYSTINYKWSFGDNTGLFVSTNHTVN
  HTYVLNGTFSLNLTVKAAAPGPCPPPPPPPRPSKPTPSLATTLKSYDSNTPGPAGDNPLELSRIPDENCQINRYG
  HFQATITIVEGILEVNIIQMTDVLMPVPWPESSLIDFVVTCQGSIPTEVCTIISDPTCEITQNTVCSPVDVDEMC
  LLTVRRTFNGSGTYCVNLTLGDDTSLALTSTLISVPDRDPASPLRMANSALISVGCLAIFVTVISLLVYKKHKEY
  NPIENSPGNVVRSKGLSVFLNRAKAVFFPGNQEKDPLLKNQEFKGVS

• Structural information:
  • Protein Domains: (240..32-)
    (/note="PKD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151"-)
  • Interpro: IPR013783  IPR022409  IPR000601  IPR035986  
  • Prosite: PS50093
  • DIP: 57606
  • STRING: ENSP00000371420
• Other Databases: GeneCards:  GPNMB  Malacards:  GPNMB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:1901215	negative regulation of neuron death	IGI	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0045545	syndecan binding	IPI	molecular function
GO:0007165	signal transduction	IMP	biological process
GO:0042130	negative regulation of T cell proliferation	IDA	biological process
GO:0007267	cell-cell signaling	IMP	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0001818	negative regulation of cytokine production	IDA	biological process
GO:0031954	positive regulation of protein autophosphorylation	IDA	biological process
GO:0034103	regulation of tissue remodeling	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0042056	chemoattractant activity	NAS	molecular function
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IC	biological process
GO:0048018	receptor ligand activity	IMP	molecular function
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0050918	positive chemotaxis	NAS	biological process
GO:0045765	regulation of angiogenesis	NAS	biological process
GO:0050868	negative regulation of T cell activation	IMP	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0034103	regulation of tissue remodeling	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033162	melanosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R