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UniProtKB - Q14956 (GPNMB_HUMAN)

Entry version 155 (13 Feb 2019)
Sequence version 2 (15 Mar 2005)
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Protein

Transmembrane glycoprotein NMB

Gene

GPNMB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Could be a melanogenic enzyme.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • chemoattractant activity Source: ParkinsonsUK-UCL
  • heparin binding Source: ParkinsonsUK-UCL
  • integrin binding Source: GO_Central
  • receptor ligand activity Source: ParkinsonsUK-UCL
  • syndecan binding Source: ParkinsonsUK-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8857538 PTK6 promotes HIF1A stabilization

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane glycoprotein NMB
Alternative name(s):
Hematopoietic growth factor inducible neurokinin-1 type1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GPNMB
Synonyms:HGFIN1 Publication, NMB
ORF Names:UNQ1725/PRO9925
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000136235.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:4462 GPNMB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604368 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14956

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 486ExtracellularSequence analysisAdd BLAST465
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 572CytoplasmicSequence analysisAdd BLAST65

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Increased expression levels in glioblastoma multiforme biopsy samples correlate with poor patient survival prognosis (PubMed:16609006). Has been proposed as a potential target for antibodies coupled to cytotoxic drugs in the context of cancer immunotherapy, including that of melanoma (PubMed:16489096).2 Publications
Amyloidosis, primary localized cutaneous, 3 (PLCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive.
See also OMIM:617920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080643189 – 572Missing in PLCA3; may be expressed at much lower levels than wild-type protein; mislocalized to the endoplasmic reticulum and nuclear envelope. 1 PublicationAdd BLAST384
Natural variantiVAR_080644220 – 572Missing in PLCA3. 1 PublicationAdd BLAST353

Keywords - Diseasei

Amyloidosis, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10457

MalaCards human disease database

More...MalaCardsi		GPNMB
MIMi617920 phenotype

Open Targets

More...OpenTargetsi		ENSG00000136235

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		319635 Amyloidosis cutis dyschromia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28845

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3712919

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GPNMB

Domain mapping of disease mutations (DMDM)

More...DMDMi		61252504

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002470922 – 572Transmembrane glycoprotein NMBAdd BLAST551

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi93N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi134N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi146N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi200N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi249N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi275N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi296N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi300N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi306N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi312N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi459N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi467N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei542PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14956

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14956

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14956

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14956

PeptideAtlas

More...PeptideAtlasi		Q14956

PRoteomics IDEntifications database

More...PRIDEi		Q14956

ProteomicsDB human proteome resource

More...ProteomicsDBi		60258
60259 [Q14956-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1847

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14956

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q14956

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, but very low expression, if any, in the brain (PubMed:12609765, PubMed:16609006). Expressed in the epidermis with higher levels in melanocytes compared with keratinocytes and Langerhans cells (at protein level) (PubMed:29336782). Expressed in peripheral blood, but not bone marrow mononuclear cells (PubMed:12609765). Expressed 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) (PubMed:16489096). May be overexpressed in various cancers, including melanoma and glioblastoma multiforme (PubMed:7814155, PubMed:16489096, PubMed:16609006).5 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by G-CSF/CSF3 and M-CSF/CSF1 in bone marrow mononuclear cells, hence up-regulation may be linked to differentiation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136235 Expressed in 228 organ(s), highest expression level in visceral pleura

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14956 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14956 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
EGFRP005333EBI-7250369,EBI-297353

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115720, 7 interactors

Database of interacting proteins

More...DIPi		DIP-57606N

Protein interaction database and analysis system

More...IntActi		Q14956, 4 interactors

Molecular INTeraction database

More...MINTi		Q14956

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000371420

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q14956

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q14956

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini240 – 327PKDPROSITE-ProRule annotationAdd BLAST88

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi64 – 66Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi320 – 332Poly-ProAdd BLAST13

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PMEL/NMB family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IE9P Eukaryota
ENOG4110Q2V LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157551

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000252941

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051797

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14956

KEGG Orthology (KO)

More...KOi		K20732

Identification of Orthologs from Complete Genome Data

More...OMAi		KHKEYKP

Database of Orthologous Groups

More...OrthoDBi		833491at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14956

TreeFam database of animal gene trees

More...TreeFami		TF334865

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR000601 PKD_dom
IPR035986 PKD_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00801 PKD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00089 PKD, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49299 SSF49299, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50093 PKD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ISS6A0A3B3ISS6_HUMAN
Transmembrane glycoprotein NMB
GPNMB
588Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q96F58Q96F58_HUMAN
GPNMB protein
GPNMB hCG_37976
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti354A → T in AAQ89481 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036262110A → D in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs755767733Ensembl.1
Natural variantiVAR_080643189 – 572Missing in PLCA3; may be expressed at much lower levels than wild-type protein; mislocalized to the endoplasmic reticulum and nuclear envelope. 1 PublicationAdd BLAST384
Natural variantiVAR_012076195S → C. Corresponds to variant dbSNP:rs530436Ensembl.1
Natural variantiVAR_012077197N → H. Corresponds to variant dbSNP:rs530413Ensembl.1
Natural variantiVAR_080644220 – 572Missing in PLCA3. 1 PublicationAdd BLAST353
Natural variantiVAR_050603294S → F1 PublicationCorresponds to variant dbSNP:rs35499907Ensembl.1
Natural variantiVAR_050604324P → L. Corresponds to variant dbSNP:rs35363287Ensembl.1
Natural variantiVAR_036263531S → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_050605538S → R. Corresponds to variant dbSNP:rs35878037Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013001340 – 351Missing in isoform 2. 2 PublicationsAdd BLAST12

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34610.1 [Q14956-1]
CCDS5380.1 [Q14956-2]

Protein sequence database of the Protein Information Resource

More...PIRi		I38065

NCBI Reference Sequences

More...RefSeqi		NP_001005340.1, NM_001005340.1 [Q14956-1]
NP_002501.1, NM_002510.2 [Q14956-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.190495

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258733; ENSP00000258733; ENSG00000136235 [Q14956-2]
ENST00000381990; ENSP00000371420; ENSG00000136235 [Q14956-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10457

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10457

UCSC genome browser

More...UCSCi		uc003swb.4 human [Q14956-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ14956
SMRiQ14956
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115720, 7 interactors
DIPiDIP-57606N
IntActiQ14956, 4 interactors
MINTiQ14956
STRINGi9606.ENSP00000371420

Chemistry databases

ChEMBLiCHEMBL3712919

PTM databases

GlyConnecti1847
iPTMnetiQ14956
PhosphoSitePlusiQ14956

Polymorphism and mutation databases

BioMutaiGPNMB
DMDMi61252504

Proteomic databases

EPDiQ14956
jPOSTiQ14956
MaxQBiQ14956
PaxDbiQ14956
PeptideAtlasiQ14956
PRIDEiQ14956
ProteomicsDBi60258
60259 [Q14956-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		10457
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258733; ENSP00000258733; ENSG00000136235 [Q14956-2]
ENST00000381990; ENSP00000371420; ENSG00000136235 [Q14956-1]
GeneIDi10457
KEGGihsa:10457
UCSCiuc003swb.4 human [Q14956-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10457
DisGeNETi10457
EuPathDBiHostDB:ENSG00000136235.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		GPNMB
HGNCiHGNC:4462 GPNMB
MalaCardsiGPNMB
MIMi604368 gene
617920 phenotype
neXtProtiNX_Q14956
OpenTargetsiENSG00000136235
Orphaneti319635 Amyloidosis cutis dyschromia
PharmGKBiPA28845

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IE9P Eukaryota
ENOG4110Q2V LUCA
GeneTreeiENSGT00940000157551
HOGENOMiHOG000252941
HOVERGENiHBG051797
InParanoidiQ14956
KOiK20732
OMAiKHKEYKP
OrthoDBi833491at2759
PhylomeDBiQ14956
TreeFamiTF334865

Enzyme and pathway databases

ReactomeiR-HSA-8857538 PTK6 promotes HIF1A stabilization

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GPNMB human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GPNMB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10457

Protein Ontology

More...PROi		PR:Q14956

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136235 Expressed in 228 organ(s), highest expression level in visceral pleura
ExpressionAtlasiQ14956 baseline and differential
GenevisibleiQ14956 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
PfamiView protein in Pfam
PF00801 PKD, 1 hit
SMARTiView protein in SMART
SM00089 PKD, 1 hit
SUPFAMiSSF49299 SSF49299, 1 hit
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGPNMB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14956
Secondary accession number(s): A4D155, Q6UVX1, Q8N1A1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 15, 2005
Last modified: February 13, 2019
This is version 155 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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