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NPAP1 nuclear pore associated protein 1 [ Homo sapiens (human) ]

Gene ID: 23742, updated on 13-May-2022

Summary

Official Symbol
NPAP1provided by HGNC
Official Full Name
nuclear pore associated protein 1provided by HGNC
Primary source
HGNC:HGNC:1190
See related
Ensembl:ENSG00000185823 MIM:610922; AllianceGenome:HGNC:1190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C15orf2
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 paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]
Orthologs
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Genomic context

See NPAP1 in Genome Data Viewer
Location:
15q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (24675775..24683393)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (22411441..22419055)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (24920922..24928540)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370733 Neighboring gene Prader-Willi region non-protein coding RNA 3 Neighboring gene Prader-Willi region non-protein coding RNA 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:25017418-25018314 and GRCh37_chr15:25018315-25019210 Neighboring gene Sharpr-MPRA regulatory region 849 Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nuclear ribonucleoprotein polypeptide N

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Prader-Willi syndrome
MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of chromosome 15 open reading frame 2 (C15orf2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spermatogenesis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
nuclear pore-associated protein 1
Names
protein C15orf2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021413.1 RefSeqGene

    Range
    5382..13000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018958.3NP_061831.2  nuclear pore-associated protein 1

    See identical proteins and their annotated locations for NP_061831.2

    Status: REVIEWED

    Source sequence(s)
    AC100720
    Consensus CDS
    CCDS10015.1
    UniProtKB/Swiss-Prot
    Q9NZP6
    Related
    ENSP00000333735.3, ENST00000329468.5
    Conserved Domains (1) summary
    pfam15229
    Location:154383
    POM121; POM121 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    24675775..24683393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    22411441..22419055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)