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Aliases for NPAP1 Gene

Aliases for NPAP1 Gene

  • Nuclear Pore Associated Protein 1 2 3 5
  • C15orf2 3 4
  • Chromosome 15 Open Reading Frame 2 2
  • Nuclear Pore-Associated Protein 1 3
  • Protein C15orf2 3

External Ids for NPAP1 Gene

Previous HGNC Symbols for NPAP1 Gene

  • C15orf2

Previous GeneCards Identifiers for NPAP1 Gene

  • GC15P024951
  • GC15P024969
  • GC15P024982
  • GC15P025000

Summaries for NPAP1 Gene

Entrez Gene Summary for NPAP1 Gene

  • This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012]

GeneCards Summary for NPAP1 Gene

NPAP1 (Nuclear Pore Associated Protein 1) is a Protein Coding gene. Diseases associated with NPAP1 include Prader-Willi Syndrome and Angelman Syndrome. An important paralog of this gene is LOC729159.

UniProtKB/Swiss-Prot for NPAP1 Gene

  • May be involved in spermatogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPAP1 Gene

Genomics for NPAP1 Gene

Regulatory Elements for NPAP1 Gene

Enhancers for NPAP1 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
GH15F024877 1.7 FANTOM5 Ensembl ENCODE 1.3 +202.9 202878 1.1 ELF3 TBP ARID4B DMAP1 ZNF48 RAD21 RARA THAP11 KLF11 ZBTB11 SNRPN SNURF NPAP1 PIR42622 RPL5P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NPAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NPAP1 Gene

Chromosome:
15
Start:
24,675,394 bp from pter
End:
24,683,446 bp from pter
Size:
8,053 bases
Orientation:
Plus strand

Genomic View for NPAP1 Gene

Genes around NPAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPAP1 Gene

Proteins for NPAP1 Gene

  • Protein details for NPAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZP6-NPAP1_HUMAN
    Recommended name:
    Nuclear pore-associated protein 1
    Protein Accession:
    Q9NZP6

    Protein attributes for NPAP1 Gene

    Size:
    1156 amino acids
    Molecular mass:
    120954 Da
    Quaternary structure:
    • Associates with the nuclear pore complex (NPC).

neXtProt entry for NPAP1 Gene

Post-translational modifications for NPAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NPAP1 Gene

Domains & Families for NPAP1 Gene

Protein Domains for NPAP1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for NPAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NPAP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NPAP1 Gene

Function for NPAP1 Gene

Molecular function for NPAP1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in spermatogenesis.

Gene Ontology (GO) - Molecular Function for NPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005487 nucleocytoplasmic transporter activity IBA --
GO:0008139 nuclear localization sequence binding IBA --
GO:0017056 structural constituent of nuclear pore IBA --
genes like me logo Genes that share ontologies with NPAP1: view

Phenotypes for NPAP1 Gene

genes like me logo Genes that share phenotypes with NPAP1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NPAP1 Gene

Localization for NPAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPAP1 Gene

Nucleus, nucleoplasm. Nucleus inner membrane. Note=Colocalizes with the NPC and nuclear lamins at the nuclear periphery.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPAP1 Gene COMPARTMENTS Subcellular localization image for NPAP1 gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005654 nucleoplasm IEA --
GO:0016020 membrane IEA --
GO:0044613 nuclear pore central transport channel IBA --
genes like me logo Genes that share ontologies with NPAP1: view

Pathways & Interactions for NPAP1 Gene

SuperPathways for NPAP1 Gene

No Data Available

Interacting Proteins for NPAP1 Gene

Gene Ontology (GO) - Biological Process for NPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006405 RNA export from nucleus IBA --
GO:0006606 protein import into nucleus IBA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis NAS 10783265
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with NPAP1: view

No data available for Pathways by source and SIGNOR curated interactions for NPAP1 Gene

Transcripts for NPAP1 Gene

mRNA/cDNA for NPAP1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPAP1 Gene

Nuclear pore associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPAP1 Gene

No ASD Table

Relevant External Links for NPAP1 Gene

GeneLoc Exon Structure for
NPAP1
ECgene alternative splicing isoforms for
NPAP1

Expression for NPAP1 Gene

mRNA expression in normal human tissues for NPAP1 Gene

mRNA differential expression in normal tissues according to GTEx for NPAP1 Gene

This gene is overexpressed in Testis (x17.8).

NURSA nuclear receptor signaling pathways regulating expression of NPAP1 Gene:

NPAP1

SOURCE GeneReport for Unigene cluster for NPAP1 Gene:

Hs.649663

mRNA Expression by UniProt/SwissProt for NPAP1 Gene:

Q9NZP6-NPAP1_HUMAN
Tissue specificity: Testis-specific in adults. In fetal brain expressed only from the paternal allele.
genes like me logo Genes that share expression patterns with NPAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NPAP1 Gene

Orthologs for NPAP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NPAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPAP1 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia LOC102151589 34
  • 59.23 (n)
-- 35
  • 35 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NPAP1 35
  • 32 (a)
OneToOne
Species where no ortholog for NPAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NPAP1 Gene

ENSEMBL:
Gene Tree for NPAP1 (if available)
TreeFam:
Gene Tree for NPAP1 (if available)

Paralogs for NPAP1 Gene

Variants for NPAP1 Gene

Sequence variations from dbSNP and Humsavar for NPAP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs772577429 A colorectal cancer sample 24,675,977(+) CGGTC(A/C/G)GGCTC reference, missense
rs778802437 A colorectal cancer sample 24,676,207(+) GTTCC(A/G)TAAGG reference, missense
rs10692936 -- 24,681,402(+) TAGAT(-/A)GATAA utr-variant-3-prime
rs111319860 -- 24,673,740(+) TAATT(A/G)TAAAC upstream-variant-2KB
rs111475844 -- 24,678,523(+) CCACA(A/G)CTTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NPAP1 Gene

Variant ID Type Subtype PubMed ID
esv2674507 CNV deletion 23128226
esv3635898 CNV gain 21293372
nsv1046100 CNV gain 25217958
nsv568530 CNV loss 21841781
nsv819553 CNV gain 19587683

Variation tolerance for NPAP1 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPAP1 Gene

Disorders for NPAP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NPAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
prader-willi syndrome
  • prader willi syndrome
angelman syndrome
  • as
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NPAP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NPAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPAP1
genes like me logo Genes that share disorders with NPAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPAP1 Gene

Publications for NPAP1 Gene

  1. The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. (PMID: 22694955) Neumann L.C. … Horsthemke B. (Hum. Mol. Genet. 2012) 2 3 4 64
  2. Identification of a testis-specific gene (c15orf2) in the Prader- Willi syndrome region on chromosome 15. (PMID: 10783265) Faerber C. … Horsthemke B. (Genomics 2000) 2 3 4 64
  3. The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. (PMID: 20020165) Wawrzik M. … Horsthemke B. (Neurogenetics 2010) 3 4 64
  4. C15orf2 and a novel noncoding transcript from the Prader- Willi/Angelman syndrome region show monoallelic expression in fetal brain. (PMID: 17337158) Buiting K. … Horsthemke B. (Genomics 2007) 3 4 64
  5. The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. (PMID: 24482533) Neumann L.C. … Horsthemke B. (Genome Biol Evol 2014) 3 64

Products for NPAP1 Gene

Sources for NPAP1 Gene

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