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Aliases for NPAP1 Gene

Aliases for NPAP1 Gene

  • Nuclear Pore Associated Protein 1 2 3
  • C15orf2 3 4 6
  • Chromosome 15 Open Reading Frame 2 2
  • Nuclear Pore-Associated Protein 1 3
  • Protein C15orf2 3

External Ids for NPAP1 Gene

Previous Symbols for NPAP1 Gene

  • C15orf2

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.

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

Genomic Location for NPAP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPAP1 Gene

No data available for Regulatory Elements 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
    Secondary Accessions:

    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

Proteomics data for NPAP1 Gene at MOPED

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 for NPAP1 Gene

Protein Domains for NPAP1 Gene

ProtoNet:
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 --
genes like me logo Genes that share ontologies with NPAP1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for NPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005637 nuclear inner membrane IEA --
GO:0005654 nucleoplasm IEA --
GO:0016020 membrane --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NPAP1: view

Pathways 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:0007275 multicellular organismal 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 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:

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 (17.8).

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 expressions with NPAP1: view

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 36
  • 99.25 (n)
  • 98.1 (a)
NPAP1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPAP1 37
  • 32 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 35 (a)
OneToMany
-- 37
  • 35 (a)
OneToMany
LOC102151589 36
  • 59.23 (n)
  • 40.3 (a)
Species with no ortholog for NPAP1:
  • 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

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

No data available for 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 MAF
rs1947402 -- 24,674,305(+) GGACA(A/G)TGACC upstream-variant-2KB
rs2219073 -- 24,674,735(+) ATAAT(A/G)AGAAT upstream-variant-2KB
rs2737307 -- 24,681,991(+) agtgc(A/C)gtggc utr-variant-3-prime
rs3742950 - 24,677,083(-) GGTCT(C/G)CACAG reference, missense
rs3784246 - 24,676,502(-) GGTAG(A/G)CATTT missense, reference

Relevant External Links for NPAP1 Gene

HapMap Linkage Disequilibrium report
NPAP1

No data available for Structural Variations from Database of Genomic Variants (DGV) for NPAP1 Gene

Disorders for NPAP1 Gene

(1) MalaCards Diseases for NPAP1 Gene

Search for NPAP1 Gene in MalaCards »
genes like me logo Genes that share disorders with NPAP1: view

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

Publications for NPAP1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. Prader-Willi Syndrome (PMID: 20301505) Pagon R.A. … Stephens K. ( 1993) 3

Products for NPAP1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NPAP1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NPAP1
    • Block miRNA regulation of NPAP1 using miScript Target Protectors

    Sources for NPAP1 Gene

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