Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23742
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear pore associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPAP1
Synonyms (NCBI Gene) Gene synonyms aliases
C15orf2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the p
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT614292 hsa-miR-8485 HITS-CLIP 23824327
MIRT614291 hsa-miR-603 HITS-CLIP 23824327
MIRT670521 hsa-miR-95-5p HITS-CLIP 23824327
MIRT614290 hsa-miR-4639-3p HITS-CLIP 23824327
MIRT614289 hsa-miR-7110-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005637 Component Nuclear inner membrane IEA
GO:0005643 Component Nuclear pore IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610922 1190 ENSG00000185823
Protein
UniProt ID Q9NZP6
Protein name Nuclear pore-associated protein 1
Protein function May be involved in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15229 POM121 154 383 Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific in adults. In fetal brain expressed only from the paternal allele. {ECO:0000269|PubMed:10783265, ECO:0000269|PubMed:17337158, ECO:0000269|PubMed:20020165}.
Sequence
MGNLLSKFRPGCRRRPLPGPGRGAPAPLSRDASPPGRAHSVPTPRPFRGLFRRNARRRPS
AASIFVAPKRPCPLPRAAAAPLGVLPAVGWGLAIRKTPMLPARNPPRFGHPSSVRIPPPS
RMFTLLLPSPREPAVKARKPIPATLLEETEVWAQEGPRRVKKDEDPVQIEGEDDEKRTPL
SSGEASSTSRSQGTQGDVASFRCSPGPLEGNVYHKFSENSMSEKAQASPASSCLEGPAMP
STHSQAGCARHLGKPDPDATAPPEPAVGCSLLQQKLAAEVLNEEPPPSSLGLPIPLMSGK
RMPDEKPFCIPPRSAAPPRAARNRPCKRKMSIPLLLPLPPSLPLLWDRGELPPPAKLPCL
SVEGDLHTLEKSPEYKRNSRILE
DKTETMTNSSITQPAPSFSQPVQTTDSLPLTTYTSQV
SAPLPIPDLADLATGPLILPIPPLSTTPKMDEKIAFTIPNSPLALPADLVPILGDQSNEK
GGSYNSVVGAAPLTSDPPTPPSSTPSFKPPVTRESPISMCVDSPPPLSFLTLLPVPSTGT
SVITSKPMNSTSVISTVTTNASAHLTSQTAVDPEVVNMDTTAPSQVVIFTSSLSSRVSSL
PNSQIHCSAEQRHPGKTSVYTSPLPFIFHNTTPSFNQLFGKEATPQPKFEAPDGQPQKAS
LPSACVFLSLPIIPPPDTSTLVNSASTASSSKPPIETNAMHTTPPSKAVILQSASVSKKY
LPFYLGLPGSGNTQPSGNTASVQGSTSLPAQSVRAPATASNHPLNPGATPQPKFGAPDGP
QQKTSLPSAHDFLSLPIMVPPDTSTLVSSASAASLSKPAIDTSDMNTTPPSKTVILQSTF
VSRKEEYIRFYMGLPGSGNTLHSDSIASAQVSTSFPAQADRRPTTTSSHPLNTGSISHST
LGATDGQQKSDSSFILGNPATPAPVIGLTSPSVQPLSGSIIPPGFAELTSPYTALGTPVN
AEPVEGHNASAFPNGTAKTSGFRIATGMPGTGDSTLLVGNTIPGPQVIMGPGTPMDGGSI
GFSMSAPGPSSTSGELNIGQGQSGTPSTTSVFPFGQAAWDPTGHSMAAAPQGASNIPVFG
YTSAAAYIPGLDPPTQNSCSGMGGDGTRSIVGGPCVPAFQQCILQHTWTERKFYTSSTHY
YGQETYVRRHVCFQLP
Sequence length 1156
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Prader-Willi Syndrome prader-willi syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 37086484
Obesity Associate 21233802
Prader Willi Syndrome Associate 17337158, 21233802