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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NPAP1 Gene

protein-coding GIFtS: 37
GCID: GC15P024969

nuclear pore associated protein 1

(Previous name: chromosome 15 open reading frame 2 )
(Previous symbol: C15orf2)

Explore 4 diseases affiliated with
NPAP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Pore Associated Protein 1¹ ²
C15orf2¹ ² ³ ⁵
Chromosome 15 Open Reading Frame 2¹
Nuclear Pore-Associated Protein 1²
Protein C15orf2²

External Ids:	HGNC: 1190¹	Entrez Gene: 23742²	Ensembl: ENSG00000185823⁷	OMIM: 610922⁵	UniProtKB: Q9NZP6³

Export aliases for NPAP1 gene to outside databases

Previous GC identifer: GC15P024951

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NPAP1:

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)

UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6

Function: May be involved in spermatogenesis

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_026446.14

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for NPAP1
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPAP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11-q13 Ensembl cytogenetic band: 15q11.2 HGNC cytogenetic band: 15q11-q13

NPAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPAP1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P024969: view genomic region (about GC identifiers)

Start:	24,920,541 bp from pter	End:	24,928,593 bp from pter
Size:	8,053 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
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About This Section

UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6 (See protein sequence)

Recommended Name: Nuclear pore-associated protein 1

Size: 1156 amino acids; 120954 Da

Subunit: Associates with the nuclear pore complex (NPC)

Subcellular location: Nucleus, nucleoplasm. Nucleus inner membrane. Note=Colocalizes with the NPC and nuclear lamins at

the nuclear periphery

Explore the universe of human proteins at neXtProt for NPAP1: NX_Q9NZP6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NZP6

NPAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_061831.2

ENSEMBL proteins:

ENSP00000333735

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005637	nuclear inner membrane	IEA	--
GO:0005654	nucleoplasm	IEA	--

NPAP1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NPAP1 for domains About GeneDecksing

2 InterPro domains/families:

IPR026054 Nucleoporin

IPR026090 POM121

Graphical View of Domain Structure for InterPro Entry Q9NZP6

ProtoNet protein and cluster: Q9NZP6

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NPAP1_HUMAN, Q9NZP6

Function: May be involved in spermatogenesis

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

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

NPAP1 for ontologies About GeneDecksing

Animal Models:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NPAP1

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007283	spermatogenesis	NAS	10783265
GO:0030154	cell differentiation	IEA	--

NPAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for NPAP1 gene:

NM_018958.2

Unigene Cluster for NPAP1:

Nuclear pore associated protein 1

Hs.649663 [show with all ESTs]

Unigene Representative Sequence: NM_018958

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000329468(uc001ywo.3)

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1 DOTS entry:

DT.91746507

3 AceView cDNA sequences:

NM_018958 BV188680 AI971905

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

NPAP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NPAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NPAP1

SOURCE GeneReport for Unigene cluster: Hs.649663

UniProtKB/Swiss-Prot: NPAP1_HUMAN, Q9NZP6

Tissue specificity: Testis-specific in adults. In fetal brain expressed only from the paternal allele

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for NPAP1 (if available)
TreeFam Gene Tree for NPAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NPAP1 gene

LOC100131107²

NPAP1 for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for NPAP1 (see all 9)
PGOHUM00000238798 PGOHUM00000238816 PGOHUM00000238855 PGOHUM00000238872 PGOHUM00000236224

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4254305^1,2	C	--	3055762(+)	`ATACCC/ATTGTC`	1	--	us2k¹		2	NA	122
rs4415988^1,2	F,A	--	3055829(+)	`TTCCTG/CTTTGG`	1	--	us2k¹		1	NA	120
rs111319860^1,2		--	3056026(+)	`TAATTG/ATAAAC`	1	--	us2k¹		2	CSA WA	120
rs7169324^1,2	C	--	3056211(+)	`TTTGTA/TGTATG`	1	--	us2k¹		1	NA	120
rs1947401^1,2	C	--	3056387(+)	`AACAAG/TATTAA`	1	--	us2k¹		3	MN NA	306
rs1947402^1,2	C,F,H	--	3056591(+)	`GGACAA/GTGACC`	1	--	us2k¹		20	NA EA MN NS	1804
rs78715347^1,2	F	--	3057182(+)	`TGTGGT/GTTTTT`	1	--	us2k¹		1	WA	118
rs113284946^1,2	C	--	3057274(+)	`CCTCCG/ACCTCC`	1	--	us2k¹		1	NA	2
rs112384518^1,2	C	--	3057334(+)	`AAGTGC/TGTGCC`	1	--	us2k¹		2	NA	122
rs76301573^1,2	C	--	3057534(+)	`GGCCCT/CGCCTG`	1	--	us2k¹		2	NA	122

HapMap Linkage Disequilibrium report for NPAP1 (24920541 - 24928593 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NPAP1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NPAP1 for disorders           About GeneDecksing

OMIM gene information: 610922    OMIM disorders: --

4 diseases for NPAP1:    About MalaCards

prader-willi syndrome idiopathic generalized epilepsy angelman syndrome generalized epilepsy

Export disorders for NPAP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NPAP1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NPAP1)

Utopia: connect your pdf to the dynamic
world of online information

The imprinted NPAP1/C15orf2 gene in the Prader-Willi s yndrome region encodes a nuclear pore complex associated protein. (PubMed id 22694955)^{1, 2, 3} Neumann L.C....Horsthemke B. (2012)
Identification of a testis-specific gene (c15orf2) in the Prader- Willi syndrome region on chromosome 15. (PubMed id 10783265)^{1, 2, 3} Faerber C.... Horsthemke B. (2000)
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. (PubMed id 20020165)^{1, 2} Wawrzik M....Horsthemke B. (2010)
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. (PubMed id 17337158)^{1, 2} Buiting K....Horsthemke B. (2007)
Recurrent microdeletions at 15q11.2 and 16p13.11 pred ispose to idiopathic generalized epilepsies. (PubMed id 19843651)¹ de Kovel C.G....Sander T. (2010)
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. (PubMed id 19066619)¹ Kanber D.... Buiting K. (2009)
Molecular and clinical characterization of two patien ts with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q . (PubMed id 18627056)¹ Calounova G....Sedlacek Z. (2008)
Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)² Zody M.C....Nusbaum C. (2006)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
Prader-Willi Syndrome (PubMed id 20301505)¹ Driscoll D.J....Cassidy S.B. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23742	HGNC: 1190	AceView: C15orf2	Ensembl:ENSG00000185823	euGenes: HUgn23742
ECgene: NPAP1	H-InvDB: NPAP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NPAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NPAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NPAP1 gene:
Search GeneIP for patents involving NPAP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPAP1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NPAP1

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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NPAP1 Gene

nuclear pore associated protein 1

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NPAP1 Gene

nuclear pore associated protein 1

Aliasesfor NPAP1 gene

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Specialized Databases showing NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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for NPAP1 gene

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