Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NPTN Gene

Aliases for NPTN Gene

  • Neuroplastin 2 3 3 5
  • Stromal Cell Derived Factor Receptor 1 2 3
  • Stromal Cell-Derived Receptor 1 3 4
  • SDFR1 3 4
  • SDR-1 3 4
  • SDR1 3 4
  • GP55 3
  • GP65 3
  • Np55 3
  • Np65 3

External Ids for NPTN Gene

Previous HGNC Symbols for NPTN Gene

  • SDFR1

Previous GeneCards Identifiers for NPTN Gene

  • GC15M071640
  • GC15M073852
  • GC15M050683

Summaries for NPTN Gene

Entrez Gene Summary for NPTN Gene

  • This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

GeneCards Summary for NPTN Gene

NPTN (Neuroplastin) is a Protein Coding gene. Diseases associated with NPTN include Allergic Bronchopulmonary Aspergillosis and Acute Erythroid Leukemia. Among its related pathways are Akt Signaling and PAK Pathway. GO annotations related to this gene include cell adhesion molecule binding and type 1 fibroblast growth factor receptor binding. An important paralog of this gene is BSG.

UniProtKB/Swiss-Prot for NPTN Gene

  • Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity).

Gene Wiki entry for NPTN Gene

Additional gene information for NPTN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPTN Gene

Genomics for NPTN Gene

Regulatory Elements for NPTN Gene

Enhancers for NPTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H073682 1.7 FANTOM5 ENCODE dbSUPER 10.8 -51.9 -51929 7 ARID4B SIN3A FEZF1 GLI4 ZBTB7B TCF12 GLIS2 GATA2 FOS SP3 NPTN CD276 C15orf59 GOLGA6A GC15P073700
GH15H073598 1.1 Ensembl ENCODE 11.9 +33.1 33103 4 PKNOX1 FOXA2 ZNF133 SIN3A ZNF2 ZEB1 YY1 ZSCAN5C FOS YY2 NPTN ADPGK GC15M073574 NPTN-IT1
GH15H073564 0.8 ENCODE 12 +69.6 69640 0 HDAC1 RAD21 TCF12 SCRT2 FOS RUNX3 ZNF362 ZNF592 SMARCA4 MYC NPTN NPTN-IT1 MRPS15P1
GH15H073704 0.8 ENCODE 11.9 -71.1 -71055 0 CTCF PKNOX1 ATF1 RB1 SIN3A KLF17 ZNF2 RAD21 CTBP1 ZBTB48 CLK3 NPTN EDC3 LOC101929333 HCN4 GC15P073700 ENSG00000276807
GH15H073700 0.8 ENCODE 11.9 -66.0 -66041 0 CTCF ARID4B KLF17 ZNF2 RAD21 ZEB1 ZKSCAN1 CC2D1A CTBP1 ZNF143 NPTN HCN4 GC15P073700 CD276
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPTN on UCSC Golden Path with GeneCards custom track

Promoters for NPTN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079121 1534 2401 HDGF PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B ZNF302 ZNF143

Genomic Location for NPTN Gene

Chromosome:
15
Start:
73,560,003 bp from pter
End:
73,634,134 bp from pter
Size:
74,132 bases
Orientation:
Minus strand

Genomic View for NPTN Gene

Genes around NPTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPTN Gene

Proteins for NPTN Gene

  • Protein details for NPTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y639-NPTN_HUMAN
    Recommended name:
    Neuroplastin
    Protein Accession:
    Q9Y639
    Secondary Accessions:
    • B2RAL7
    • B7Z4D3
    • B7ZLL2
    • Q17R52
    • Q59EJ9
    • Q6NVX7
    • Q9Y640

    Protein attributes for NPTN Gene

    Size:
    398 amino acids
    Molecular mass:
    44387 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD93049.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NPTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPTN Gene

Post-translational modifications for NPTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NPTN

Protein Products

  • Abcam proteins for NPTN

No data available for DME Specific Peptides for NPTN Gene

Domains & Families for NPTN Gene

Gene Families for NPTN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9Y639

UniProtKB/Swiss-Prot:

NPTN_HUMAN :
  • Some isoforms lack the first Ig-like domain which may confer homophilic adhesion activity. However, they can bind and activate FGFR1 (By similarity).
Domain:
  • Some isoforms lack the first Ig-like domain which may confer homophilic adhesion activity. However, they can bind and activate FGFR1 (By similarity).
genes like me logo Genes that share domains with NPTN: view

Function for NPTN Gene

Molecular function for NPTN Gene

UniProtKB/Swiss-Prot Function:
Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity).

Phenotypes From GWAS Catalog for NPTN Gene

Gene Ontology (GO) - Molecular Function for NPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0005105 type 1 fibroblast growth factor receptor binding ISS --
GO:0044325 ion channel binding IEA --
GO:0050839 cell adhesion molecule binding ISS --
genes like me logo Genes that share ontologies with NPTN: view

Phenotypes for NPTN Gene

genes like me logo Genes that share phenotypes with NPTN: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NPTN

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NPTN
  • Applied Biological Materials Clones for NPTN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NPTN Gene

Localization for NPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPTN Gene

Cell membrane; Single-pass type I membrane protein. Note=Enriched at postsynaptic density. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPTN gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IDA 19581412
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NPTN: view

Pathways & Interactions for NPTN Gene

genes like me logo Genes that share pathways with NPTN: view

Gene Ontology (GO) - Biological Process for NPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with NPTN: view

No data available for SIGNOR curated interactions for NPTN Gene

Drugs & Compounds for NPTN Gene

No Compound Related Data Available

Transcripts for NPTN Gene

Unigene Clusters for NPTN Gene

Neuroplastin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NPTN
  • Applied Biological Materials Clones for NPTN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NPTN Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: - - -
SP3: - - - -
SP4:
SP5:
SP6: - -

Relevant External Links for NPTN Gene

GeneLoc Exon Structure for
NPTN
ECgene alternative splicing isoforms for
NPTN

Expression for NPTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NPTN Gene

This gene is overexpressed in Nasal epithelium (25.1) and Serum (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NPTN Gene



Protein tissue co-expression partners for NPTN Gene

NURSA nuclear receptor signaling pathways regulating expression of NPTN Gene:

NPTN

SOURCE GeneReport for Unigene cluster for NPTN Gene:

Hs.744867

mRNA Expression by UniProt/SwissProt for NPTN Gene:

Q9Y639-NPTN_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is expressed in brain cortex and cerebellum (at protein level).

Evidence on tissue expression from TISSUES for NPTN Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Skin(4.3)
  • Stomach(4.3)
  • Lung(2.8)
  • Kidney(2.4)
  • Spleen(2.3)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with NPTN: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPTN Gene

Orthologs for NPTN Gene

This gene was present in the common ancestor of animals.

Orthologs for NPTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPTN 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia NPTN 33 34
  • 95.37 (n)
rat
(Rattus norvegicus)
Mammalia Nptn 33
  • 93.51 (n)
oppossum
(Monodelphis domestica)
Mammalia NPTN 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nptn 34
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPTN 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPTN 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPTN 33 34
  • 77.72 (n)
lizard
(Anolis carolinensis)
Reptilia NPTN 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6352 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398501 33
zebrafish
(Danio rerio)
Actinopterygii nptnb 33 34
  • 69.62 (n)
NPTN (3 of 3) 34
  • 64 (a)
OneToMany
NPTN (1 of 3) 34
  • 38 (a)
OneToMany
wufj19g07 33
fruit fly
(Drosophila melanogaster)
Insecta Bsg 34
  • 14 (a)
OneToMany
Species where no ortholog for NPTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPTN Gene

ENSEMBL:
Gene Tree for NPTN (if available)
TreeFam:
Gene Tree for NPTN (if available)

Paralogs for NPTN Gene

Paralogs for NPTN Gene

(3) SIMAP similar genes for NPTN Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NPTN: view

Variants for NPTN Gene

Sequence variations from dbSNP and Humsavar for NPTN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000019149 -- 73,631,026(+) TCAAG(A/G)GAAAG intron-variant
rs1000062040 -- 73,613,956(+) GCGGG(A/G)ATTAC intron-variant
rs1000071454 -- 73,630,755(+) GCAAG(A/G)TATCC intron-variant
rs1000209300 -- 73,613,097(+) TTAAG(C/G)AATTA intron-variant
rs1000302405 -- 73,623,864(+) ATGGT(A/T)CTGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPTN Gene

Variant ID Type Subtype PubMed ID
esv1006009 CNV loss 20482838
esv26087 CNV loss 19812545
esv2749873 CNV deletion 23290073
nsv1121512 CNV deletion 24896259
nsv951989 CNV duplication 24416366
nsv951990 CNV duplication 24416366

Variation tolerance for NPTN Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPTN Gene

Human Gene Mutation Database (HGMD)
NPTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPTN Gene

Disorders for NPTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for NPTN Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
allergic bronchopulmonary aspergillosis
  • pulmonary aspergillus disease
acute erythroid leukemia
  • acute erythroleukemia
- elite association - COSMIC cancer census association via MalaCards
Search NPTN in MalaCards View complete list of genes associated with diseases

Relevant External Links for NPTN

Genetic Association Database (GAD)
NPTN
Human Genome Epidemiology (HuGE) Navigator
NPTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPTN
genes like me logo Genes that share disorders with NPTN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPTN Gene

Publications for NPTN Gene

  1. The immunolocalization of the synaptic glycoprotein neuroplastin differs substantially between the human and the rodent brain. (PMID: 17196182) Bernstein HG … Kreutz MR (Brain research 2007) 3 4 22 60
  2. Association study of putative promoter polymorphisms in the neuroplastin gene and schizophrenia. (PMID: 17123723) Saito A … Ito C (Neuroscience letters 2007) 3 22 45 60
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 60

Products for NPTN Gene

  • Addgene plasmids for NPTN

Sources for NPTN Gene

Content
Loading form....