NPAP1_HUMAN
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 03-AUG-2022, entry version 122.
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; 2.
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; Q9NZP6; -.
DR PeptideAtlas; Q9NZP6; -.
DR PRIDE; Q9NZP6; -.
DR ProteomicsDB; 83473; -.
DR Antibodypedia; 53468; 63 antibodies from 15 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 CTD; 23742; -.
DR DisGeNET; 23742; -.
DR GeneCards; NPAP1; -.
DR GeneReviews; NPAP1; -.
DR HGNC; HGNC:1190; NPAP1.
DR HPA; ENSG00000185823; Tissue enhanced (brain, 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; 302542at2759; -.
DR PhylomeDB; Q9NZP6; -.
DR TreeFam; TF340538; -.
DR PathwayCommons; Q9NZP6; -.
DR SignaLink; Q9NZP6; -.
DR BioGRID-ORCS; 23742; 6 hits in 1065 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 right testis and 25 other tissues.
DR Genevisible; Q9NZP6; HS.
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; PTHR23193; 1.
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
