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Q14956

- GPNMB_HUMAN

UniProt

Q14956 - GPNMB_HUMAN

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Protein

Transmembrane glycoprotein NMB

Gene

GPNMB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Could be a melanogenic enzyme.By similarity

GO - Molecular functioni

  1. heparin binding Source: Ensembl

GO - Biological processi

  1. bone mineralization Source: Ensembl
  2. cell adhesion Source: Ensembl
  3. negative regulation of cell proliferation Source: ProtInc
  4. osteoblast differentiation Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane glycoprotein NMB
Alternative name(s):
Transmembrane glycoprotein HGFIN
Gene namesi
Name:GPNMB
Synonyms:HGFIN, NMB
ORF Names:UNQ1725/PRO9925
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:4462. GPNMB.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Melanosome
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Detected at the cell surface in different types of cancers cells, including glioblastoma multiforme cells and most melanoma cell lines.

GO - Cellular componenti

  1. cytoplasmic membrane-bounded vesicle Source: Ensembl
  2. integral component of membrane Source: ProtInc
  3. integral component of plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Glioblastoma multiforme patients that exhibit increased mRNA and protein levels (>3-fold over normal brain) in biopsy samples have a significantly higher risk of death (PubMed:16609006). In the context of cancer immunotherapy, including that of melanoma, has been proposed to be used as a cell surface protein antigen targeted by antibodies coupled to cytotoxic drugs (PubMed:16489096).2 Publications

Organism-specific databases

PharmGKBiPA28845.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 572551Transmembrane glycoprotein NMBPRO_0000024709Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi93 – 931N-linked (GlcNAc...)Sequence Analysis
Glycosylationi134 – 1341N-linked (GlcNAc...)Sequence Analysis
Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis
Glycosylationi200 – 2001N-linked (GlcNAc...)1 Publication
Glycosylationi249 – 2491N-linked (GlcNAc...)1 Publication
Glycosylationi275 – 2751N-linked (GlcNAc...)1 Publication
Glycosylationi296 – 2961N-linked (GlcNAc...)1 Publication
Glycosylationi300 – 3001N-linked (GlcNAc...)1 Publication
Glycosylationi306 – 3061N-linked (GlcNAc...)1 Publication
Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi459 – 4591N-linked (GlcNAc...)Sequence Analysis
Glycosylationi467 – 4671N-linked (GlcNAc...)Sequence Analysis
Modified residuei542 – 5421PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ14956.
PaxDbiQ14956.
PRIDEiQ14956.

PTM databases

PhosphoSiteiQ14956.

Expressioni

Tissue specificityi

Up-regulated in various cancer cells, including in glioblastoma multiforme. Expressed in many melanoma cells, as well as in tissue macrophages, including liver Kuppfer cells and lung alveolar macrophages, in podocytes and in some cells of the ciliary body of the eye (at protein level). Hardly detectable in healthy brain.3 Publications

Gene expression databases

BgeeiQ14956.
CleanExiHS_GPNMB.
HS_NMB.
ExpressionAtlasiQ14956. baseline and differential.
GenevestigatoriQ14956.

Organism-specific databases

HPAiCAB026224.
HPA044969.

Interactioni

Protein-protein interaction databases

BioGridi115720. 3 interactions.
IntActiQ14956. 1 interaction.
MINTiMINT-1192048.
STRINGi9606.ENSP00000371420.

Structurei

3D structure databases

ProteinModelPortaliQ14956.
SMRiQ14956. Positions 260-319, 429-486.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 486465ExtracellularSequence AnalysisAdd
BLAST
Topological domaini508 – 57265CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei487 – 50721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini240 – 32788PKDPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi64 – 663Cell attachment siteSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi320 – 33213Poly-ProAdd
BLAST

Sequence similaritiesi

Belongs to the PMEL/NMB family.Curated
Contains 1 PKD domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40272.
GeneTreeiENSGT00530000063573.
HOGENOMiHOG000252941.
HOVERGENiHBG051797.
InParanoidiQ14956.
OMAiHTYVLNG.
OrthoDBiEOG7GXPB9.
PhylomeDBiQ14956.
TreeFamiTF334865.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
InterProiIPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
[Graphical view]
PfamiPF00801. PKD. 1 hit.
[Graphical view]
SMARTiSM00089. PKD. 1 hit.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 1 hit.
PROSITEiPS50093. PKD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14956-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MECLYYFLGF LLLAARLPLD AAKRFHDVLG NERPSAYMRE HNQLNGWSSD
60 70 80 90 100
ENDWNEKLYP VWKRGDMRWK NSWKGGRVQA VLTSDSPALV GSNITFAVNL
110 120 130 140 150
IFPRCQKEDA NGNIVYEKNC RNEAGLSADP YVYNWTAWSE DSDGENGTGQ
160 170 180 190 200
SHHNVFPDGK PFPHHPGWRR WNFIYVFHTL GQYFQKLGRC SVRVSVNTAN
210 220 230 240 250
VTLGPQLMEV TVYRRHGRAY VPIAQVKDVY VVTDQIPVFV TMFQKNDRNS
260 270 280 290 300
SDETFLKDLP IMFDVLIHDP SHFLNYSTIN YKWSFGDNTG LFVSTNHTVN
310 320 330 340 350
HTYVLNGTFS LNLTVKAAAP GPCPPPPPPP RPSKPTPSLA TTLKSYDSNT
360 370 380 390 400
PGPAGDNPLE LSRIPDENCQ INRYGHFQAT ITIVEGILEV NIIQMTDVLM
410 420 430 440 450
PVPWPESSLI DFVVTCQGSI PTEVCTIISD PTCEITQNTV CSPVDVDEMC
460 470 480 490 500
LLTVRRTFNG SGTYCVNLTL GDDTSLALTS TLISVPDRDP ASPLRMANSA
510 520 530 540 550
LISVGCLAIF VTVISLLVYK KHKEYNPIEN SPGNVVRSKG LSVFLNRAKA
560 570
VFFPGNQEKD PLLKNQEFKG VS
Length:572
Mass (Da):63,923
Last modified:March 15, 2005 - v2
Checksum:i2465C12C2F0F3996
GO
Isoform 2 (identifier: Q14956-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     340-351: Missing.

Show »
Length:560
Mass (Da):62,643
Checksum:i570035B48CCE3ECC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti354 – 3541A → T in AAQ89481. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101A → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_036262
Natural varianti195 – 1951S → C.
Corresponds to variant rs530436 [ dbSNP | Ensembl ].
VAR_012076
Natural varianti197 – 1971N → H.
Corresponds to variant rs530413 [ dbSNP | Ensembl ].
VAR_012077
Natural varianti294 – 2941S → F.
Corresponds to variant rs35499907 [ dbSNP | Ensembl ].
VAR_050603
Natural varianti324 – 3241P → L.
Corresponds to variant rs35363287 [ dbSNP | Ensembl ].
VAR_050604
Natural varianti531 – 5311S → I in a breast cancer sample; somatic mutation. 1 Publication
VAR_036263
Natural varianti538 – 5381S → R.
Corresponds to variant rs35878037 [ dbSNP | Ensembl ].
VAR_050605

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei340 – 35112Missing in isoform 2. 2 PublicationsVSP_013001Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X76534 mRNA. Translation: CAA54044.1.
AF322909 mRNA. Translation: AAG42839.1.
AY359124 mRNA. Translation: AAQ89481.1.
AC005082 Genomic DNA. Translation: AAP22336.1.
CH236948 Genomic DNA. Translation: EAL24259.1.
CH471073 Genomic DNA. Translation: EAW93782.1.
BC032783 mRNA. Translation: AAH32783.1.
CCDSiCCDS34610.1. [Q14956-1]
CCDS5380.1. [Q14956-2]
PIRiI38065.
RefSeqiNP_001005340.1. NM_001005340.1. [Q14956-1]
NP_002501.1. NM_002510.2. [Q14956-2]
UniGeneiHs.190495.

Genome annotation databases

EnsembliENST00000258733; ENSP00000258733; ENSG00000136235. [Q14956-2]
ENST00000381990; ENSP00000371420; ENSG00000136235. [Q14956-1]
GeneIDi10457.
KEGGihsa:10457.
UCSCiuc003swb.3. human. [Q14956-2]
uc003swc.3. human. [Q14956-1]

Polymorphism databases

DMDMi61252504.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X76534 mRNA. Translation: CAA54044.1 .
AF322909 mRNA. Translation: AAG42839.1 .
AY359124 mRNA. Translation: AAQ89481.1 .
AC005082 Genomic DNA. Translation: AAP22336.1 .
CH236948 Genomic DNA. Translation: EAL24259.1 .
CH471073 Genomic DNA. Translation: EAW93782.1 .
BC032783 mRNA. Translation: AAH32783.1 .
CCDSi CCDS34610.1. [Q14956-1 ]
CCDS5380.1. [Q14956-2 ]
PIRi I38065.
RefSeqi NP_001005340.1. NM_001005340.1. [Q14956-1 ]
NP_002501.1. NM_002510.2. [Q14956-2 ]
UniGenei Hs.190495.

3D structure databases

ProteinModelPortali Q14956.
SMRi Q14956. Positions 260-319, 429-486.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115720. 3 interactions.
IntActi Q14956. 1 interaction.
MINTi MINT-1192048.
STRINGi 9606.ENSP00000371420.

PTM databases

PhosphoSitei Q14956.

Polymorphism databases

DMDMi 61252504.

Proteomic databases

MaxQBi Q14956.
PaxDbi Q14956.
PRIDEi Q14956.

Protocols and materials databases

DNASUi 10457.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258733 ; ENSP00000258733 ; ENSG00000136235 . [Q14956-2 ]
ENST00000381990 ; ENSP00000371420 ; ENSG00000136235 . [Q14956-1 ]
GeneIDi 10457.
KEGGi hsa:10457.
UCSCi uc003swb.3. human. [Q14956-2 ]
uc003swc.3. human. [Q14956-1 ]

Organism-specific databases

CTDi 10457.
GeneCardsi GC07P023252.
HGNCi HGNC:4462. GPNMB.
HPAi CAB026224.
HPA044969.
MIMi 604368. gene.
neXtProti NX_Q14956.
PharmGKBi PA28845.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40272.
GeneTreei ENSGT00530000063573.
HOGENOMi HOG000252941.
HOVERGENi HBG051797.
InParanoidi Q14956.
OMAi HTYVLNG.
OrthoDBi EOG7GXPB9.
PhylomeDBi Q14956.
TreeFami TF334865.

Miscellaneous databases

ChiTaRSi GPNMB. human.
GeneWikii GPNMB.
GenomeRNAii 10457.
NextBioi 39645.
PROi Q14956.
SOURCEi Search...

Gene expression databases

Bgeei Q14956.
CleanExi HS_GPNMB.
HS_NMB.
ExpressionAtlasi Q14956. baseline and differential.
Genevestigatori Q14956.

Family and domain databases

Gene3Di 2.60.40.670. 1 hit.
InterProi IPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
[Graphical view ]
Pfami PF00801. PKD. 1 hit.
[Graphical view ]
SMARTi SM00089. PKD. 1 hit.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 1 hit.
PROSITEi PS50093. PKD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "NMB, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts."
    Weterman M.A.J., Ajubi N., van Dinter I.M.R., Degen W.G.J., van Muijen G.N.P., Ruiter D.J., Bloemers H.P.J.
    Int. J. Cancer 60:73-81(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Melanoma.
  2. "Hematopoietic growth factor inducible neurokinin-1 type: a transmembrane protein that is similar to neurokinin 1 interacts with substance P."
    Bandari P.S., Qian J., Yehia G., Joshi D.D., Maloof P.B., Potian J., Oh H.S., Gascon P., Harrison J.S., Rameshwar P.
    Regul. Pept. 111:169-178(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Peripheral blood.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  8. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  9. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION, ALTERNATIVE SPLICING, POTENTIAL TUMOR-ASSOCIATED ANTIGEN FOR IMMUNOTHERAPY, DISEASE.
  10. "Glycoprotein nonmetastatic melanoma protein B, a potential molecular therapeutic target in patients with glioblastoma multiforme."
    Kuan C.T., Wakiya K., Dowell J.M., Herndon J.E. II, Reardon D.A., Graner M.W., Riggins G.J., Wikstrand C.J., Bigner D.D.
    Clin. Cancer Res. 12:1970-1982(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, ALTERNATIVE SPLICING, DISEASE.
  11. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-200; ASN-249; ASN-275; ASN-296; ASN-300 AND ASN-306.
    Tissue: Liver.
  13. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-110 AND ILE-531.

Entry informationi

Entry nameiGPNMB_HUMAN
AccessioniPrimary (citable) accession number: Q14956
Secondary accession number(s): A4D155, Q6UVX1, Q8N1A1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 15, 2005
Last modified: October 29, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3