Gene Gene information from NCBI Gene database.
Entrez ID 23742
Gene name Nuclear pore associated protein 1
Gene symbol NPAP1
Synonyms (NCBI Gene)
C15orf2
Chromosome 15
Chromosome location 15q11.2
Summary 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.
308
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610922 1190 ENSG00000185823
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIODONTITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome Benign; Likely benign ClinVar
CTD, ClinVar, HPO
CTD, ClinVar, HPO
CTD, ClinVar, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromicria Acromicria HPO_DG
★☆☆☆☆
Found in Text Mining only
Acromicric Dysplasia Acromicric Dysplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 17337158
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only