NXP20_HUMAN
ID NXP20_HUMAN Reviewed; 563 AA.
AC Q8IWE2; A8K9W6; Q6MZV4; Q9BVL6;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Protein NOXP20;
DE AltName: Full=Nervous system overexpressed protein 20;
DE AltName: Full=Protein FAM114A1;
GN Name=FAM114A1; Synonyms=NOXP20;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Salivary gland;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ARG-84 AND
RP PRO-116.
RC TISSUE=Colon, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-196, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-120, VARIANT [LARGE SCALE
RP ANALYSIS] PRO-116, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-185; THR-189; SER-196;
RP SER-202 AND SER-261, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: May play a role in neuronal cell development. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8IWE2; Q6RW13: AGTRAP; NbExp=3; IntAct=EBI-2686288, EBI-741181;
CC Q8IWE2; Q96DZ9: CMTM5; NbExp=3; IntAct=EBI-2686288, EBI-2548702;
CC Q8IWE2; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-2686288, EBI-11522780;
CC Q8IWE2; Q8TB36: GDAP1; NbExp=3; IntAct=EBI-2686288, EBI-11110431;
CC Q8IWE2; P61019: RAB2A; NbExp=7; IntAct=EBI-2686288, EBI-752037;
CC Q8IWE2; Q8WUD1: RAB2B; NbExp=6; IntAct=EBI-2686288, EBI-5542466;
CC Q8IWE2; Q9NZD8: SPG21; NbExp=7; IntAct=EBI-2686288, EBI-742688;
CC Q8IWE2; Q9UBN6: TNFRSF10D; NbExp=3; IntAct=EBI-2686288, EBI-1044859;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IWE2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IWE2-2; Sequence=VSP_056466;
CC -!- SIMILARITY: Belongs to the FAM114 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK292831; BAF85520.1; -; mRNA.
DR EMBL; BX640862; CAE45923.1; -; mRNA.
DR EMBL; AC108044; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001096; AAH01096.2; -; mRNA.
DR EMBL; BC040452; AAH40452.1; -; mRNA.
DR CCDS; CCDS3447.1; -. [Q8IWE2-1]
DR CCDS; CCDS82916.1; -. [Q8IWE2-2]
DR RefSeq; NP_001317693.1; NM_001330764.1. [Q8IWE2-2]
DR RefSeq; NP_612398.2; NM_138389.3. [Q8IWE2-1]
DR RefSeq; XP_005262729.1; XM_005262672.2.
DR AlphaFoldDB; Q8IWE2; -.
DR SMR; Q8IWE2; -.
DR BioGRID; 124967; 27.
DR IntAct; Q8IWE2; 10.
DR STRING; 9606.ENSP00000351740; -.
DR GlyGen; Q8IWE2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IWE2; -.
DR MetOSite; Q8IWE2; -.
DR PhosphoSitePlus; Q8IWE2; -.
DR SwissPalm; Q8IWE2; -.
DR BioMuta; FAM114A1; -.
DR DMDM; 229462912; -.
DR EPD; Q8IWE2; -.
DR jPOST; Q8IWE2; -.
DR MassIVE; Q8IWE2; -.
DR MaxQB; Q8IWE2; -.
DR PaxDb; Q8IWE2; -.
DR PeptideAtlas; Q8IWE2; -.
DR PRIDE; Q8IWE2; -.
DR ProteomicsDB; 66587; -.
DR ProteomicsDB; 70848; -. [Q8IWE2-1]
DR Antibodypedia; 68341; 50 antibodies from 17 providers.
DR DNASU; 92689; -.
DR Ensembl; ENST00000358869.5; ENSP00000351740.2; ENSG00000197712.12. [Q8IWE2-1]
DR Ensembl; ENST00000515037.5; ENSP00000424115.1; ENSG00000197712.12. [Q8IWE2-2]
DR GeneID; 92689; -.
DR KEGG; hsa:92689; -.
DR MANE-Select; ENST00000358869.5; ENSP00000351740.2; NM_138389.4; NP_612398.2.
DR UCSC; uc003gtn.4; human. [Q8IWE2-1]
DR CTD; 92689; -.
DR DisGeNET; 92689; -.
DR GeneCards; FAM114A1; -.
DR HGNC; HGNC:25087; FAM114A1.
DR HPA; ENSG00000197712; Low tissue specificity.
DR neXtProt; NX_Q8IWE2; -.
DR OpenTargets; ENSG00000197712; -.
DR PharmGKB; PA162385681; -.
DR VEuPathDB; HostDB:ENSG00000197712; -.
DR eggNOG; ENOG502R83C; Eukaryota.
DR GeneTree; ENSGT00390000010054; -.
DR HOGENOM; CLU_035724_1_0_1; -.
DR InParanoid; Q8IWE2; -.
DR OMA; MCKEVGC; -.
DR PhylomeDB; Q8IWE2; -.
DR TreeFam; TF324360; -.
DR PathwayCommons; Q8IWE2; -.
DR SignaLink; Q8IWE2; -.
DR BioGRID-ORCS; 92689; 9 hits in 1080 CRISPR screens.
DR ChiTaRS; FAM114A1; human.
DR GeneWiki; FAM114A1; -.
DR GenomeRNAi; 92689; -.
DR Pharos; Q8IWE2; Tdark.
DR PRO; PR:Q8IWE2; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8IWE2; protein.
DR Bgee; ENSG00000197712; Expressed in parotid gland and 199 other tissues.
DR ExpressionAtlas; Q8IWE2; baseline and differential.
DR Genevisible; Q8IWE2; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR InterPro; IPR007998; DUF719.
DR PANTHER; PTHR12842; PTHR12842; 1.
DR Pfam; PF05334; DUF719; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..563
FT /note="Protein NOXP20"
FT /id="PRO_0000274561"
FT REGION 1..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 165..206
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 411..436
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 343..367
FT /evidence="ECO:0000255"
FT COMPBIAS 165..184
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 192..206
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 120
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 185
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 189
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 196
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 199
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9D281"
FT MOD_RES 202
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 261
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VAR_SEQ 1..207
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_056466"
FT VARIANT 40
FT /note="S -> L (in dbSNP:rs34137542)"
FT /id="VAR_053823"
FT VARIANT 84
FT /note="G -> R (in dbSNP:rs11096964)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030320"
FT VARIANT 116
FT /note="L -> P (in dbSNP:rs11555334)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0007744|PubMed:20068231"
FT /id="VAR_030321"
FT VARIANT 201
FT /note="P -> L (in dbSNP:rs430296)"
FT /id="VAR_030322"
FT VARIANT 367
FT /note="R -> H (in dbSNP:rs2306923)"
FT /id="VAR_030323"
FT VARIANT 443
FT /note="V -> I (in dbSNP:rs17429619)"
FT /id="VAR_030324"
FT VARIANT 446
FT /note="S -> L (in dbSNP:rs36058104)"
FT /id="VAR_053824"
SQ SEQUENCE 563 AA; 60742 MW; 318AC32240D3786F CRC64;
MSDDAGDTLA TGDKAEVTEM PNSDSLPEDA EVHCDSAAVS HEPTPADPRG EGHENAAVQG
AGAAAIGPPV QPQDANALEP PLNGDVTEDT LAECIDSVSL EAEPRSEIPL QEQNYLAVDS
PPSGGGWAGW GSWGKSLLSS ASATVGHGLT AVKEKAGATL RIHGVNSGSS EGAQPNTENG
VPEITDAATD QGPAESPPTS PSSASRGMLS AITNVVQNTG KSVLTGGLDA LEFIGKKTMN
VLAESDPGFK RTKTLMERTV SLSQMLREAK EKEKQRLAQQ LTMERTAHYG MLFDEYQGLS
HLEALEILSN ESESKVQSFL ASLDGEKLEL LKNDLISIKD IFAAKELENE ENQEEQGLEE
KGEEFARMLT ELLFELHVAA TPDKLNKAMK RAHDWVEEDQ TVVSVDVAKV SEEETKKEEK
EEKSQDPQED KKEEKKTKTI EEVYMSSIES LAEVTARCIE QLHKVAELIL HGQEEEKPAQ
DQAKVLIKLT TAMCNEVASL SKKFTNSLTT VGSNKKAEVL NPMISSVLLE GCNSTTYIQD
AFQLLLPVLQ VSHIQTSCLK AQP
