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Q9NZP6 (NPAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nuclear pore-associated protein 1
Gene names
Name:NPAP1
Synonyms:C15orf2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1156 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Nucleusnucleoplasm. 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 processDifferentiation
Spermatogenesis
   Cellular componentMembrane
Nucleus
   Coding sequence diversityPolymorphism
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell 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_componentnuclear inner membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11561156Nuclear pore-associated protein 1
PRO_0000243929

Regions

Compositional bias285 – 536252Pro-rich

Natural variations

Natural variant341P → Q.
Corresponds to variant rs35022251 [ dbSNP | Ensembl ].
VAR_050878
Natural variant371R → Q in a colorectal cancer sample; somatic mutation. Ref.3
VAR_035682
Natural variant1141V → I in a colorectal cancer sample; somatic mutation. Ref.3
VAR_035683
Natural variant1521W → R.
Corresponds to variant rs35870568 [ dbSNP | Ensembl ].
VAR_050879
Natural variant2121V → A.
Corresponds to variant rs3784246 [ dbSNP | Ensembl ].
VAR_026872
Natural variant2531G → R. Ref.1
Corresponds to variant rs1563102 [ dbSNP | Ensembl ].
VAR_026873
Natural variant2821N → S.
Corresponds to variant rs7165533 [ dbSNP | Ensembl ].
VAR_026874
Natural variant3431P → A.
Corresponds to variant rs36025315 [ dbSNP | Ensembl ].
VAR_050880
Natural variant4061Q → E.
Corresponds to variant rs3742950 [ dbSNP | Ensembl ].
VAR_026875
Natural variant7571A → T.
Corresponds to variant rs36032407 [ dbSNP | Ensembl ].
VAR_050881
Natural variant9291T → P.
Corresponds to variant rs34413216 [ dbSNP | Ensembl ].
VAR_050882

Sequences

Sequence LengthMass (Da)Tools
Q9NZP6 [UniParc].

Last modified May 15, 2007. Version 2.
Checksum: EB8ABE1B1C932CE6

FASTA1,156120,954
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS10015.1.
RefSeqNP_061831.2. NM_018958.2.
UniGeneHs.649663.

3D structure databases

ProteinModelPortalQ9NZP6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000333735.

PTM databases

PhosphoSiteQ9NZP6.

Polymorphism databases

DMDM147744554.

Proteomic databases

PaxDbQ9NZP6.
PRIDEQ9NZP6.

Protocols and materials databases

DNASU23742.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329468; ENSP00000333735; ENSG00000185823.
GeneID23742.
KEGGhsa:23742.
UCSCuc001ywo.3. human.

Organism-specific databases

CTD23742.
GeneCardsGC15P024982.
GeneReviewsNPAP1.
HGNCHGNC:1190. NPAP1.
HPAHPA018828.
HPA019562.
MIM610922. gene.
neXtProtNX_Q9NZP6.
PharmGKBPA25519.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79836.
HOGENOMHOG000111850.
InParanoidQ9NZP6.
OMAFYTSSTH.
OrthoDBEOG7VX8V5.
PhylomeDBQ9NZP6.
TreeFamTF340538.

Gene expression databases

BgeeQ9NZP6.
CleanExHS_C15orf2.
GenevestigatorQ9NZP6.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi23742.
NextBio46659.
PROQ9NZP6.
SOURCESearch...

Entry information

Entry nameNPAP1_HUMAN
AccessionPrimary (citable) accession number: Q9NZP6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 15, 2007
Last modified: July 9, 2014
This is version 72 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM