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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.

Additional gene information for NPAP1 Gene

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

Genomics for NPAP1 Gene

GeneHancer (GH) Regulatory Elements for NPAP1 Gene

Promoters and enhancers for NPAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I024675 Promoter 0.7 EPDnew 550.8 +0.4 362 0.1 NR2C1 NR2C2 PIR46221 NPAP1 PIR43547 PIR44762 PIR46021 PIR57813 PIR40052 GC15P024752 GC15P024751
GH15I024877 Enhancer 1.3 FANTOM5 Ensembl ENCODE 1.3 +202.9 202878 1.1 ELF3 ARID4B DMAP1 RAD21 ZNF48 RARA THAP11 KLF11 ZBTB11 USF2 RPL5P1 SNRPN SNURF NPAP1 PIR42622
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NPAP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NPAP1 Gene

Genomic Locations for NPAP1 Gene
chr15:24,675,394-24,683,446
(GRCh38/hg38)
Size:
8,053 bases
Orientation:
Plus strand
chr15:24,920,541-24,928,593
(GRCh37/hg19)

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

No Post-translational modifications

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

Gene Families for NPAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NPAP1 Gene

InterPro:
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 UniProtKB/Swiss-Prot for NPAP1 Gene

Function for NPAP1 Gene

Molecular function for NPAP1 Gene

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

Phenotypes From GWAS Catalog for NPAP1 Gene

Gene Ontology (GO) - Molecular Function for NPAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005487 nuclear pore 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

Human Phenotype Ontology for NPAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 NPAP1 gene
Compartment Confidence
extracellular 5
nucleus 4
mitochondrion 1
cytosol 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 NOT nuclear pore central transport channel IBA --
genes like me logo Genes that share ontologies with NPAP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPAP1 Gene

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

Drugs & Compounds for NPAP1 Gene

No Compound Related Data Available

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia LOC102151589 33
  • 59.23 (n)
-- 34
  • 35 (a)
OneToMany
-- 34
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NPAP1 34
  • 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 Variation AA Info Type
rs772577429 A colorectal cancer sample 24,675,977(+) G/A/C coding_sequence_variant, missense_variant
rs778802437 A colorectal cancer sample 24,676,207(+) G/A/T coding_sequence_variant, missense_variant
rs1000130451 -- 24,680,636(+) G/C 3_prime_UTR_variant
rs1000194458 -- 24,680,026(+) G/A 3_prime_UTR_variant
rs1000262238 -- 24,678,945(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information 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
  • pws
angelman syndrome
  • as
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NPAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 LC … Horsthemke B (Human molecular genetics 2012) 2 3 4 58
  2. Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. (PMID: 10783265) Färber C … Horsthemke B (Genomics 2000) 2 3 4 58
  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 58
  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 58
  5. The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. (PMID: 24482533) Neumann LC … Horsthemke B (Genome biology and evolution 2014) 3 58

Products for NPAP1 Gene

Sources for NPAP1 Gene

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