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Q9NZP6

- NPAP1_HUMAN

UniProt

Q9NZP6 - NPAP1_HUMAN

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Protein

Nuclear pore-associated protein 1

Gene

NPAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in spermatogenesis.

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. spermatogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear pore-associated protein 1
Gene namesi
Name:NPAP1
Synonyms:C15orf2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:1190. NPAP1.

Subcellular locationi

Nucleusnucleoplasm 1 Publication. Nucleus inner membrane 1 Publication
Note: Colocalizes with the NPC and nuclear lamins at the nuclear periphery.

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. membrane Source: UniProtKB-KW
  3. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25519.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11561156Nuclear pore-associated protein 1PRO_0000243929Add
BLAST

Proteomic databases

PaxDbiQ9NZP6.
PRIDEiQ9NZP6.

PTM databases

PhosphoSiteiQ9NZP6.

Expressioni

Tissue specificityi

Testis-specific in adults. In fetal brain expressed only from the paternal allele.3 Publications

Gene expression databases

BgeeiQ9NZP6.
CleanExiHS_C15orf2.
GenevestigatoriQ9NZP6.

Organism-specific databases

HPAiHPA018828.
HPA019562.

Interactioni

Subunit structurei

Associates with the nuclear pore complex (NPC).1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000333735.

Structurei

3D structure databases

ProteinModelPortaliQ9NZP6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi285 – 536252Pro-richAdd
BLAST

Phylogenomic databases

eggNOGiNOG79836.
GeneTreeiENSGT00500000045111.
HOGENOMiHOG000111850.
InParanoidiQ9NZP6.
OMAiFYTSSTH.
OrthoDBiEOG7VX8V5.
PhylomeDBiQ9NZP6.
TreeFamiTF340538.

Sequencei

Sequence statusi: Complete.

Q9NZP6-1 [UniParc]FASTAAdd to Basket

« Hide

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

VCFQLP
Length:1,156
Mass (Da):120,954
Last modified:May 15, 2007 - v2
Checksum:iEB8ABE1B1C932CE6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341P → Q.
Corresponds to variant rs35022251 [ dbSNP | Ensembl ].
VAR_050878
Natural varianti37 – 371R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035682
Natural varianti114 – 1141V → I in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035683
Natural varianti152 – 1521W → R.
Corresponds to variant rs35870568 [ dbSNP | Ensembl ].
VAR_050879
Natural varianti212 – 2121V → A.
Corresponds to variant rs3784246 [ dbSNP | Ensembl ].
VAR_026872
Natural varianti253 – 2531G → R.1 Publication
Corresponds to variant rs1563102 [ dbSNP | Ensembl ].
VAR_026873
Natural varianti282 – 2821N → S.
Corresponds to variant rs7165533 [ dbSNP | Ensembl ].
VAR_026874
Natural varianti343 – 3431P → A.
Corresponds to variant rs36025315 [ dbSNP | Ensembl ].
VAR_050880
Natural varianti406 – 4061Q → E.
Corresponds to variant rs3742950 [ dbSNP | Ensembl ].
VAR_026875
Natural varianti757 – 7571A → T.
Corresponds to variant rs36032407 [ dbSNP | Ensembl ].
VAR_050881
Natural varianti929 – 9291T → P.
Corresponds to variant rs34413216 [ dbSNP | Ensembl ].
VAR_050882

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF179681 Genomic DNA. Translation: AAF72107.1.
AC100720 Genomic DNA. No translation available.
CCDSiCCDS10015.1.
RefSeqiNP_061831.2. NM_018958.2.
UniGeneiHs.649663.

Genome annotation databases

EnsembliENST00000329468; ENSP00000333735; ENSG00000185823.
GeneIDi23742.
KEGGihsa:23742.
UCSCiuc001ywo.3. human.

Polymorphism databases

DMDMi147744554.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF179681 Genomic DNA. Translation: AAF72107.1 .
AC100720 Genomic DNA. No translation available.
CCDSi CCDS10015.1.
RefSeqi NP_061831.2. NM_018958.2.
UniGenei Hs.649663.

3D structure databases

ProteinModelPortali Q9NZP6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000333735.

PTM databases

PhosphoSitei Q9NZP6.

Polymorphism databases

DMDMi 147744554.

Proteomic databases

PaxDbi Q9NZP6.
PRIDEi Q9NZP6.

Protocols and materials databases

DNASUi 23742.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329468 ; ENSP00000333735 ; ENSG00000185823 .
GeneIDi 23742.
KEGGi hsa:23742.
UCSCi uc001ywo.3. human.

Organism-specific databases

CTDi 23742.
GeneCardsi GC15P025000.
GeneReviewsi NPAP1.
HGNCi HGNC:1190. NPAP1.
HPAi HPA018828.
HPA019562.
MIMi 610922. gene.
neXtProti NX_Q9NZP6.
PharmGKBi PA25519.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79836.
GeneTreei ENSGT00500000045111.
HOGENOMi HOG000111850.
InParanoidi Q9NZP6.
OMAi FYTSSTH.
OrthoDBi EOG7VX8V5.
PhylomeDBi Q9NZP6.
TreeFami TF340538.

Miscellaneous databases

GenomeRNAii 23742.
NextBioi 46659.
PROi Q9NZP6.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZP6.
CleanExi HS_C15orf2.
Genevestigatori Q9NZP6.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiNPAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZP6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 15, 2007
Last modified: October 29, 2014
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3