ID   NPAP1_HUMAN             Reviewed;        1156 AA.
AC   Q9NZP6;
DT   27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   15-MAY-2007, sequence version 2.
DT   24-JAN-2024, entry version 128.
DE   RecName: Full=Nuclear pore-associated protein 1;
GN   Name=NPAP1; Synonyms=C15orf2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], POSSIBLE FUNCTION, TISSUE SPECIFICITY,
RP   AND VARIANT ARG-253.
RX   PubMed=10783265; DOI=10.1006/geno.2000.6158;
RA   Faerber C., Gross S., Neesen J., Buiting K., Horsthemke B.;
RT   "Identification of a testis-specific gene (c15orf2) in the Prader-Willi
RT   syndrome region on chromosome 15.";
RL   Genomics 65:174-183(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16572171; DOI=10.1038/nature04601;
RA   Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA   Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA   FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA   Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA   Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA   DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA   Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA   Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA   Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA   O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA   Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA   Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT   "Analysis of the DNA sequence and duplication history of human chromosome
RT   15.";
RL   Nature 440:671-675(2006).
RN   [3]
RP   VARIANTS [LARGE SCALE ANALYSIS] GLN-37 AND ILE-114.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
RN   [4]
RP   TISSUE SPECIFICITY.
RX   PubMed=17337158; DOI=10.1016/j.ygeno.2006.12.008;
RA   Buiting K., Nazlican H., Galetzka D., Wawrzik M., Gross S., Horsthemke B.;
RT   "C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman
RT   syndrome region show monoallelic expression in fetal brain.";
RL   Genomics 89:588-595(2007).
RN   [5]
RP   TISSUE SPECIFICITY, AND NUCLEAR LOCALIZATION SIGNAL.
RX   PubMed=20020165; DOI=10.1007/s10048-009-0231-z;
RA   Wawrzik M., Unmehopa U.A., Swaab D.F., van de Nes J., Buiting K.,
RA   Horsthemke B.;
RT   "The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic
RT   imprinting and positive selection.";
RL   Neurogenetics 11:153-161(2010).
RN   [6]
RP   SUBUNIT, AND SUBCELLULAR LOCATION.
RX   PubMed=22694955; DOI=10.1093/hmg/dds228;
RA   Neumann L.C., Markaki Y., Mladenov E., Hoffmann D., Buiting K.,
RA   Horsthemke B.;
RT   "The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region
RT   encodes a nuclear pore complex associated protein.";
RL   Hum. Mol. Genet. 21:4038-4048(2012).
CC   -!- FUNCTION: May be involved in spermatogenesis.
CC   -!- SUBUNIT: Associates with the nuclear pore complex (NPC).
CC       {ECO:0000269|PubMed:22694955}.
CC   -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC       {ECO:0000269|PubMed:22694955}. Nucleus inner membrane
CC       {ECO:0000269|PubMed:22694955}. Note=Colocalizes with the NPC and
CC       nuclear lamins at the nuclear periphery.
CC   -!- TISSUE SPECIFICITY: Testis-specific in adults. In fetal brain expressed
CC       only from the paternal allele. {ECO:0000269|PubMed:10783265,
CC       ECO:0000269|PubMed:17337158, ECO:0000269|PubMed:20020165}.
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DR   EMBL; AF179681; AAF72107.1; -; Genomic_DNA.
DR   EMBL; AC100720; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS10015.1; -.
DR   RefSeq; NP_061831.2; NM_018958.2.
DR   AlphaFoldDB; Q9NZP6; -.
DR   BioGRID; 117244; 11.
DR   IntAct; Q9NZP6; 1.
DR   STRING; 9606.ENSP00000333735; -.
DR   TCDB; 1.I.1.1.3; the nuclear pore complex (npc) family.
DR   iPTMnet; Q9NZP6; -.
DR   PhosphoSitePlus; Q9NZP6; -.
DR   BioMuta; NPAP1; -.
DR   DMDM; 147744554; -.
DR   MassIVE; Q9NZP6; -.
DR   PaxDb; 9606-ENSP00000333735; -.
DR   PeptideAtlas; Q9NZP6; -.
DR   ProteomicsDB; 83473; -.
DR   Antibodypedia; 53468; 74 antibodies from 16 providers.
DR   DNASU; 23742; -.
DR   Ensembl; ENST00000329468.5; ENSP00000333735.3; ENSG00000185823.5.
DR   GeneID; 23742; -.
DR   KEGG; hsa:23742; -.
DR   MANE-Select; ENST00000329468.5; ENSP00000333735.3; NM_018958.3; NP_061831.2.
DR   UCSC; uc001ywo.4; human.
DR   AGR; HGNC:1190; -.
DR   CTD; 23742; -.
DR   DisGeNET; 23742; -.
DR   GeneCards; NPAP1; -.
DR   GeneReviews; NPAP1; -.
DR   HGNC; HGNC:1190; NPAP1.
DR   HPA; ENSG00000185823; Tissue enhanced (testis).
DR   MalaCards; NPAP1; -.
DR   MIM; 610922; gene.
DR   neXtProt; NX_Q9NZP6; -.
DR   OpenTargets; ENSG00000185823; -.
DR   PharmGKB; PA25519; -.
DR   VEuPathDB; HostDB:ENSG00000185823; -.
DR   eggNOG; ENOG502RU1K; Eukaryota.
DR   GeneTree; ENSGT00940000153253; -.
DR   HOGENOM; CLU_300841_0_0_1; -.
DR   InParanoid; Q9NZP6; -.
DR   OMA; EKGGSCH; -.
DR   OrthoDB; 4704941at2759; -.
DR   PhylomeDB; Q9NZP6; -.
DR   TreeFam; TF340538; -.
DR   PathwayCommons; Q9NZP6; -.
DR   SignaLink; Q9NZP6; -.
DR   BioGRID-ORCS; 23742; 7 hits in 1143 CRISPR screens.
DR   GenomeRNAi; 23742; -.
DR   Pharos; Q9NZP6; Tbio.
DR   PRO; PR:Q9NZP6; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   RNAct; Q9NZP6; Protein.
DR   Bgee; ENSG00000185823; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 27 other cell types or tissues.
DR   GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR   GO; GO:0005637; C:nuclear inner membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005643; C:nuclear pore; IBA:GO_Central.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR   GO; GO:0008139; F:nuclear localization sequence binding; IBA:GO_Central.
DR   GO; GO:0017056; F:structural constituent of nuclear pore; IBA:GO_Central.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR   GO; GO:0006405; P:RNA export from nucleus; IBA:GO_Central.
DR   GO; GO:0007283; P:spermatogenesis; NAS:UniProtKB.
DR   InterPro; IPR026054; Nucleoporin.
DR   PANTHER; PTHR23193; NUCLEAR PORE COMPLEX PROTEIN NUP; 1.
DR   PANTHER; PTHR23193:SF15; NUCLEAR PORE-ASSOCIATED PROTEIN 1; 1.
DR   Pfam; PF15229; POM121; 1.
DR   Genevisible; Q9NZP6; HS.
PE   1: Evidence at protein level;
KW   Developmental protein; Differentiation; Membrane; Nucleus;
KW   Reference proteome; Spermatogenesis.
FT   CHAIN           1..1156
FT                   /note="Nuclear pore-associated protein 1"
FT                   /id="PRO_0000243929"
FT   REGION          1..60
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          155..204
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          219..266
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          481..515
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          680..703
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          732..786
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          872..915
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1026..1046
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        155..180
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        181..199
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        219..239
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        732..767
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         34
FT                   /note="P -> Q (in dbSNP:rs35022251)"
FT                   /id="VAR_050878"
FT   VARIANT         37
FT                   /note="R -> Q (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs772577429)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035682"
FT   VARIANT         114
FT                   /note="V -> I (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs778802437)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035683"
FT   VARIANT         152
FT                   /note="W -> R (in dbSNP:rs35870568)"
FT                   /id="VAR_050879"
FT   VARIANT         212
FT                   /note="V -> A (in dbSNP:rs3784246)"
FT                   /id="VAR_026872"
FT   VARIANT         253
FT                   /note="G -> R (in dbSNP:rs1563102)"
FT                   /evidence="ECO:0000269|PubMed:10783265"
FT                   /id="VAR_026873"
FT   VARIANT         282
FT                   /note="N -> S (in dbSNP:rs7165533)"
FT                   /id="VAR_026874"
FT   VARIANT         343
FT                   /note="P -> A (in dbSNP:rs36025315)"
FT                   /id="VAR_050880"
FT   VARIANT         406
FT                   /note="Q -> E (in dbSNP:rs3742950)"
FT                   /id="VAR_026875"
FT   VARIANT         757
FT                   /note="A -> T (in dbSNP:rs36032407)"
FT                   /id="VAR_050881"
FT   VARIANT         929
FT                   /note="T -> P (in dbSNP:rs34413216)"
FT                   /id="VAR_050882"
SQ   SEQUENCE   1156 AA;  120954 MW;  EB8ABE1B1C932CE6 CRC64;
     MGNLLSKFRP GCRRRPLPGP GRGAPAPLSR DASPPGRAHS VPTPRPFRGL FRRNARRRPS
     AASIFVAPKR PCPLPRAAAA PLGVLPAVGW GLAIRKTPML PARNPPRFGH PSSVRIPPPS
     RMFTLLLPSP REPAVKARKP IPATLLEETE VWAQEGPRRV KKDEDPVQIE GEDDEKRTPL
     SSGEASSTSR SQGTQGDVAS FRCSPGPLEG NVYHKFSENS MSEKAQASPA SSCLEGPAMP
     STHSQAGCAR HLGKPDPDAT APPEPAVGCS LLQQKLAAEV LNEEPPPSSL GLPIPLMSGK
     RMPDEKPFCI PPRSAAPPRA ARNRPCKRKM SIPLLLPLPP SLPLLWDRGE LPPPAKLPCL
     SVEGDLHTLE KSPEYKRNSR ILEDKTETMT NSSITQPAPS FSQPVQTTDS LPLTTYTSQV
     SAPLPIPDLA DLATGPLILP IPPLSTTPKM DEKIAFTIPN SPLALPADLV PILGDQSNEK
     GGSYNSVVGA APLTSDPPTP PSSTPSFKPP VTRESPISMC VDSPPPLSFL TLLPVPSTGT
     SVITSKPMNS TSVISTVTTN ASAHLTSQTA VDPEVVNMDT TAPSQVVIFT SSLSSRVSSL
     PNSQIHCSAE QRHPGKTSVY TSPLPFIFHN TTPSFNQLFG KEATPQPKFE APDGQPQKAS
     LPSACVFLSL PIIPPPDTST LVNSASTASS SKPPIETNAM HTTPPSKAVI LQSASVSKKY
     LPFYLGLPGS GNTQPSGNTA SVQGSTSLPA QSVRAPATAS NHPLNPGATP QPKFGAPDGP
     QQKTSLPSAH DFLSLPIMVP PDTSTLVSSA SAASLSKPAI DTSDMNTTPP SKTVILQSTF
     VSRKEEYIRF YMGLPGSGNT LHSDSIASAQ VSTSFPAQAD RRPTTTSSHP LNTGSISHST
     LGATDGQQKS DSSFILGNPA TPAPVIGLTS PSVQPLSGSI IPPGFAELTS PYTALGTPVN
     AEPVEGHNAS AFPNGTAKTS GFRIATGMPG TGDSTLLVGN TIPGPQVIMG PGTPMDGGSI
     GFSMSAPGPS STSGELNIGQ GQSGTPSTTS VFPFGQAAWD PTGHSMAAAP QGASNIPVFG
     YTSAAAYIPG LDPPTQNSCS GMGGDGTRSI VGGPCVPAFQ QCILQHTWTE RKFYTSSTHY
     YGQETYVRRH VCFQLP
//