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Aliases for NPTN Gene

Aliases for NPTN Gene

  • Neuroplastin 2 3
  • SDFR1 3 4 6
  • Stromal Cell Derived Factor Receptor 1 2 3
  • Stromal Cell-Derived Receptor 1 3 4
  • SDR-1 3 4
  • Np55 3 6

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. Among its related pathways are Akt Signaling and Akt Signaling. 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

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

Genomics for NPTN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NPTN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NPTN Gene at MOPED

Post-translational modifications for NPTN Gene

  • Glycosylation at Asn55, Asn81, Asn113, Asn168, Asn180, and Asn201
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for NPTN Gene

Domains for NPTN Gene

Gene Families for NPTN Gene

HGNC:
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • ISET :Immunoglobulin superfamily / I-set domain containing

Graphical View of Domain Structure for InterPro Entry

Q9Y639

UniProtKB/Swiss-Prot:

NPTN_HUMAN :
  • Q9Y639
Domain:
  • Some isoforms lack the first Ig-like domain which may confer homophilic adhesion activity. However, they can bind and activate FGFR1 (By similarity).
  • Contains 3 Ig-like (immunoglobulin-like) domains.
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).

Gene Ontology (GO) - Molecular Function for NPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005105 type 1 fibroblast growth factor receptor binding ISS --
GO:0005515 protein binding --
GO:0050839 cell adhesion molecule binding ISS --
genes like me logo Genes that share ontologies with NPTN: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NPTN TF1107 Nptn

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPTN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for NPTN Gene COMPARTMENTS Subcellular localization image for NPTN gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 2
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IDA 19581412
GO:0016021 integral component of membrane IEA --
GO:0042734 presynaptic membrane ISS --
genes like me logo Genes that share ontologies with NPTN: view

Pathways 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:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
GO:0010976 positive regulation of neuron projection development ISS --
genes like me logo Genes that share ontologies with NPTN: view

Transcripts for NPTN Gene

Unigene Clusters for NPTN Gene

Neuroplastin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPTN

Primer Products

Flow Cytometry Products

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 for NPTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NPTN Gene

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).
genes like me logo Genes that share expressions with NPTN: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.66 (n)
  • 100 (a)
NPTN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPTN 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPTN 35
  • 95.37 (n)
  • 97.55 (a)
NPTN 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nptn 16
Nptn 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPTN 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPTN 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nptn 35
  • 93.51 (n)
  • 96.22 (a)
chicken
(Gallus gallus)
Aves NPTN 35
  • 77.72 (n)
  • 81.02 (a)
NPTN 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPTN 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398501 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6352 35
zebrafish
(Danio rerio)
Actinopterygii NPTN (1 of 3) 36
  • 38 (a)
OneToMany
NPTN (3 of 3) 36
  • 64 (a)
OneToMany
nptnb 35
  • 69.62 (n)
  • 70.43 (a)
nptnb 36
  • 66 (a)
OneToMany
wufj19g07 35
fruit fly
(Drosophila melanogaster)
Insecta Bsg 36
  • 14 (a)
OneToMany
Species with no ortholog for NPTN:
  • 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

Selected 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 MAF
rs710086 -- 73,584,660(+) CCCTG(C/T)TCCAT intron-variant
rs729155 -- 73,631,432(-) TGCAG(C/G)GGTCA intron-variant
rs882320 -- 73,596,141(+) AACAG(G/T)GTGAT intron-variant
rs882321 -- 73,596,143(+) CAGTG(G/T)GATGG intron-variant
rs1383614 -- 73,629,253(-) AAGCC(C/T)TTCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904344 CNV Gain 21882294
esv2749873 CNV Deletion 23290073
esv26087 CNV Loss 19812545
esv1006009 CNV Loss 20482838

Relevant External Links for NPTN Gene

HapMap Linkage Disequilibrium report
NPTN
Human Gene Mutation Database (HGMD)
NPTN

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

Disorders for NPTN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NPTN Gene including...

Search for NPTN Gene in MalaCards »

(1) University of Copenhagen DISEASES for NPTN Gene

(2) Novoseek inferred disease relationships for NPTN Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 71.2 1
tumors 0 3

Relevant External Links for NPTN

Genetic Association Database (GAD)
NPTN
Human Genome Epidemiology (HuGE) Navigator
NPTN
genes like me logo Genes that share disorders with NPTN: view

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

Publications for NPTN Gene

  1. Association study of putative promoter polymorphisms in the neuroplastin gene and schizophrenia. (PMID: 17123723) Saito A. … Ito C. (Neurosci. Lett. 2007) 3 23 48
  2. The immunolocalization of the synaptic glycoprotein neuroplastin differs substantially between the human and the rodent brain. (PMID: 17196182) Bernstein H.G. … Kreutz M.R. (Brain Res. 2007) 3 4 23
  3. Synaptic membrane glycoproteins gp65 and gp55 are new members of the immunoglobulin superfamily. (PMID: 8995369) Langnaese K. … Gundelfinger E.D. (J. Biol. Chem. 1997) 3 23
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for NPTN Gene

Sources for NPTN Gene

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