Q9NZP6 (NPAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nuclear pore-associated protein 1

Gene names

Name:	NPAP1
Synonyms:	C15orf2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1156 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in spermatogenesis. Ref.1
Subunit structure	Associates with the nuclear pore complex (NPC). Ref.6
Subcellular location	Nucleus › nucleoplasm. Nucleus inner membrane. Note: Colocalizes with the NPC and nuclear lamins at the nuclear periphery. Ref.6
Tissue specificity	Testis-specific in adults. In fetal brain expressed only from the paternal allele. Ref.1 Ref.4 Ref.5

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Membrane Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	nuclear inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1156	1156	Nuclear pore-associated protein 1		PRO_0000243929
Regions
	Compositional bias	285 – 536	252	Pro-rich
Natural variations
	Natural variant	34	1	P → Q. Corresponds to variant rs35022251 [ dbSNP | Ensembl ].		VAR_050878
	Natural variant	37	1	R → Q in a colorectal cancer sample; somatic mutation. Ref.3		VAR_035682
	Natural variant	114	1	V → I in a colorectal cancer sample; somatic mutation. Ref.3		VAR_035683
	Natural variant	152	1	W → R. Corresponds to variant rs35870568 [ dbSNP | Ensembl ].		VAR_050879
	Natural variant	212	1	V → A. Corresponds to variant rs3784246 [ dbSNP | Ensembl ].		VAR_026872
	Natural variant	253	1	G → R. Ref.1 Corresponds to variant rs1563102 [ dbSNP | Ensembl ].		VAR_026873
	Natural variant	282	1	N → S. Corresponds to variant rs7165533 [ dbSNP | Ensembl ].		VAR_026874
	Natural variant	343	1	P → A. Corresponds to variant rs36025315 [ dbSNP | Ensembl ].		VAR_050880
	Natural variant	406	1	Q → E. Corresponds to variant rs3742950 [ dbSNP | Ensembl ].		VAR_026875
	Natural variant	757	1	A → T. Corresponds to variant rs36032407 [ dbSNP | Ensembl ].		VAR_050881
	Natural variant	929	1	T → P. Corresponds to variant rs34413216 [ dbSNP | Ensembl ].		VAR_050882

Sequences

	Sequence		Length	Mass (Da)
	Q9NZP6 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: EB8ABE1B1C932CE6	FASTA	1,156	120,954
	10 20 30 40 50 60 MGNLLSKFRP GCRRRPLPGP GRGAPAPLSR DASPPGRAHS VPTPRPFRGL FRRNARRRPS 70 80 90 100 110 120 AASIFVAPKR PCPLPRAAAA PLGVLPAVGW GLAIRKTPML PARNPPRFGH PSSVRIPPPS 130 140 150 160 170 180 RMFTLLLPSP REPAVKARKP IPATLLEETE VWAQEGPRRV KKDEDPVQIE GEDDEKRTPL 190 200 210 220 230 240 SSGEASSTSR SQGTQGDVAS FRCSPGPLEG NVYHKFSENS MSEKAQASPA SSCLEGPAMP 250 260 270 280 290 300 STHSQAGCAR HLGKPDPDAT APPEPAVGCS LLQQKLAAEV LNEEPPPSSL GLPIPLMSGK 310 320 330 340 350 360 RMPDEKPFCI PPRSAAPPRA ARNRPCKRKM SIPLLLPLPP SLPLLWDRGE LPPPAKLPCL 370 380 390 400 410 420 SVEGDLHTLE KSPEYKRNSR ILEDKTETMT NSSITQPAPS FSQPVQTTDS LPLTTYTSQV 430 440 450 460 470 480 SAPLPIPDLA DLATGPLILP IPPLSTTPKM DEKIAFTIPN SPLALPADLV PILGDQSNEK 490 500 510 520 530 540 GGSYNSVVGA APLTSDPPTP PSSTPSFKPP VTRESPISMC VDSPPPLSFL TLLPVPSTGT 550 560 570 580 590 600 SVITSKPMNS TSVISTVTTN ASAHLTSQTA VDPEVVNMDT TAPSQVVIFT SSLSSRVSSL 610 620 630 640 650 660 PNSQIHCSAE QRHPGKTSVY TSPLPFIFHN TTPSFNQLFG KEATPQPKFE APDGQPQKAS 670 680 690 700 710 720 LPSACVFLSL PIIPPPDTST LVNSASTASS SKPPIETNAM HTTPPSKAVI LQSASVSKKY 730 740 750 760 770 780 LPFYLGLPGS GNTQPSGNTA SVQGSTSLPA QSVRAPATAS NHPLNPGATP QPKFGAPDGP 790 800 810 820 830 840 QQKTSLPSAH DFLSLPIMVP PDTSTLVSSA SAASLSKPAI DTSDMNTTPP SKTVILQSTF 850 860 870 880 890 900 VSRKEEYIRF YMGLPGSGNT LHSDSIASAQ VSTSFPAQAD RRPTTTSSHP LNTGSISHST 910 920 930 940 950 960 LGATDGQQKS DSSFILGNPA TPAPVIGLTS PSVQPLSGSI IPPGFAELTS PYTALGTPVN 970 980 990 1000 1010 1020 AEPVEGHNAS AFPNGTAKTS GFRIATGMPG TGDSTLLVGN TIPGPQVIMG PGTPMDGGSI 1030 1040 1050 1060 1070 1080 GFSMSAPGPS STSGELNIGQ GQSGTPSTTS VFPFGQAAWD PTGHSMAAAP QGASNIPVFG 1090 1100 1110 1120 1130 1140 YTSAAAYIPG LDPPTQNSCS GMGGDGTRSI VGGPCVPAFQ QCILQHTWTE RKFYTSSTHY 1150 YGQETYVRRH VCFQLP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a testis-specific gene (c15orf2) in the Prader-Willi syndrome region on chromosome 15." Faerber C., Gross S., Neesen J., Buiting K., Horsthemke B. Genomics 65:174-183(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], POSSIBLE FUNCTION, TISSUE SPECIFICITY, VARIANT ARG-253.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-37 AND ILE-114.
[4]	"C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain." Buiting K., Nazlican H., Galetzka D., Wawrzik M., Gross S., Horsthemke B. Genomics 89:588-595(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[5]	"The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection." Wawrzik M., Unmehopa U.A., Swaab D.F., van de Nes J., Buiting K., Horsthemke B. Neurogenetics 11:153-161(2010) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, NUCLEAR LOCALIZATION SIGNAL.
[6]	"The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein." Neumann L.C., Markaki Y., Mladenov E., Hoffmann D., Buiting K., Horsthemke B. Hum. Mol. Genet. 21:4038-4048(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF179681 Genomic DNA. Translation: AAF72107.1. AC100720 Genomic DNA. No translation available.
IPI	IPI00004425.
RefSeq	NP_061831.2. NM_018958.2.
UniGene	Hs.649663.
3D structure databases
ProteinModelPortal	Q9NZP6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000333735.
PTM databases
PhosphoSite	Q9NZP6.
Polymorphism databases
DMDM	147744554.
Proteomic databases
PaxDb	Q9NZP6.
PRIDE	Q9NZP6.
Protocols and materials databases
DNASU	23742.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329468; ENSP00000333735; ENSG00000185823.
GeneID	23742.
KEGG	hsa:23742.
UCSC	uc001ywo.3. human.
Organism-specific databases
CTD	23742.
GeneCards	GC15P024951.
HGNC	HGNC:1190. NPAP1.
HPA	HPA018828.
MIM	610922. gene.
neXtProt	NX_Q9NZP6.
PharmGKB	PA25519.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG79836.
HOGENOM	HOG000111850.
InParanoid	Q9NZP6.
OMA	FYTSSTH.
OrthoDB	EOG4W0XCC.
PhylomeDB	Q9NZP6.
Gene expression databases
Bgee	Q9NZP6.
CleanEx	HS_C15orf2.
Genevestigator	Q9NZP6.
GermOnline	ENSG00000185823. Homo sapiens.
Family and domain databases
InterPro	IPR026054. Nucleoporin. IPR026090. POM121. [Graphical view]
PANTHER	PTHR23193. PTHR23193. 1 hit. PTHR23193:SF5. PTHR23193:SF5. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	23742.
NextBio	46659.
SOURCE	Search...

Entry information

Entry name

NPAP1_HUMAN

Accession

Primary (citable) accession number: Q9NZP6

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	May 15, 2007
Last modified:	April 3, 2013
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.