NXPE1_HUMAN
ID NXPE1_HUMAN Reviewed; 547 AA.
AC Q8N323; B0YJ13;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=NXPE family member 1;
DE AltName: Full=Protein FAM55A;
DE Flags: Precursor;
GN Name=NXPE1; Synonyms=FAM55A;
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon;
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).
CC -!- INTERACTION:
CC Q8N323; O43865: AHCYL1; NbExp=3; IntAct=EBI-25834085, EBI-2371423;
CC Q8N323; P27797: CALR; NbExp=3; IntAct=EBI-25834085, EBI-1049597;
CC Q8N323; P12830: CDH1; NbExp=3; IntAct=EBI-25834085, EBI-727477;
CC Q8N323; P36957: DLST; NbExp=3; IntAct=EBI-25834085, EBI-351007;
CC Q8N323; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-25834085, EBI-1055945;
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N323-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N323-2; Sequence=VSP_028872;
CC -!- SIMILARITY: Belongs to the NXPE family. {ECO:0000305}.
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DR EMBL; AC020549; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; EF444977; ACA05991.1; -; Genomic_DNA.
DR EMBL; CH471065; EAW67252.1; -; Genomic_DNA.
DR EMBL; BC029049; AAH29049.1; -; mRNA.
DR CCDS; CCDS8372.1; -. [Q8N323-2]
DR RefSeq; NP_689528.2; NM_152315.3. [Q8N323-2]
DR RefSeq; XP_011540896.1; XM_011542594.2.
DR RefSeq; XP_011540897.1; XM_011542595.2. [Q8N323-1]
DR RefSeq; XP_011540898.1; XM_011542596.2. [Q8N323-1]
DR RefSeq; XP_011540899.1; XM_011542597.2. [Q8N323-1]
DR RefSeq; XP_011540900.1; XM_011542598.2. [Q8N323-1]
DR RefSeq; XP_011540901.1; XM_011542599.2. [Q8N323-1]
DR AlphaFoldDB; Q8N323; -.
DR IntAct; Q8N323; 5.
DR STRING; 9606.ENSP00000251921; -.
DR GlyGen; Q8N323; 2 sites.
DR iPTMnet; Q8N323; -.
DR PhosphoSitePlus; Q8N323; -.
DR BioMuta; NXPE1; -.
DR DMDM; 160014059; -.
DR MassIVE; Q8N323; -.
DR PaxDb; Q8N323; -.
DR PeptideAtlas; Q8N323; -.
DR PRIDE; Q8N323; -.
DR ProteomicsDB; 71755; -. [Q8N323-1]
DR ProteomicsDB; 71756; -. [Q8N323-2]
DR Antibodypedia; 32251; 50 antibodies from 12 providers.
DR DNASU; 120400; -.
DR Ensembl; ENST00000251921.6; ENSP00000251921.2; ENSG00000095110.8. [Q8N323-2]
DR Ensembl; ENST00000424269.5; ENSP00000411690.1; ENSG00000095110.8. [Q8N323-1]
DR Ensembl; ENST00000534921.2; ENSP00000439503.2; ENSG00000095110.8. [Q8N323-1]
DR GeneID; 120400; -.
DR KEGG; hsa:120400; -.
DR MANE-Select; ENST00000534921.3; ENSP00000439503.2; NM_001395504.1; NP_001382433.1.
DR UCSC; uc001ppa.5; human. [Q8N323-1]
DR CTD; 120400; -.
DR DisGeNET; 120400; -.
DR GeneCards; NXPE1; -.
DR HGNC; HGNC:28527; NXPE1.
DR HPA; ENSG00000095110; Tissue enriched (intestine).
DR neXtProt; NX_Q8N323; -.
DR OpenTargets; ENSG00000095110; -.
DR PharmGKB; PA134910690; -.
DR VEuPathDB; HostDB:ENSG00000095110; -.
DR eggNOG; ENOG502QW5F; Eukaryota.
DR GeneTree; ENSGT00950000182866; -.
DR HOGENOM; CLU_031119_0_0_1; -.
DR InParanoid; Q8N323; -.
DR OMA; VEMMKDH; -.
DR OrthoDB; 587284at2759; -.
DR PhylomeDB; Q8N323; -.
DR TreeFam; TF329555; -.
DR PathwayCommons; Q8N323; -.
DR SignaLink; Q8N323; -.
DR BioGRID-ORCS; 120400; 8 hits in 1062 CRISPR screens.
DR GenomeRNAi; 120400; -.
DR Pharos; Q8N323; Tdark.
DR PRO; PR:Q8N323; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N323; protein.
DR Bgee; ENSG00000095110; Expressed in rectum and 59 other tissues.
DR ExpressionAtlas; Q8N323; baseline and differential.
DR Genevisible; Q8N323; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR026845; NXPH/NXPE.
DR Pfam; PF06312; Neurexophilin; 1.
DR SUPFAM; SSF81296; SSF81296; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..547
FT /note="NXPE family member 1"
FT /id="PRO_0000307930"
FT CARBOHYD 39
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 211
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..142
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028872"
FT VARIANT 353
FT /note="G -> R (in dbSNP:rs10891692)"
FT /id="VAR_036712"
FT VARIANT 423
FT /note="I -> T (in dbSNP:rs34993124)"
FT /id="VAR_036713"
FT CONFLICT 491
FT /note="G -> V (in Ref. 4; AAH29049)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 547 AA; 63178 MW; E4BA67FFD78F94AA CRC64;
MSSNTMLQKT LLILISFSVV TWMIFIISQN FTKLWSALNL SISVHYWNNS AKSLFPKTSL
IPLKPLTETE LRIKEIIEKL DQQIPPRPFT HVNTTTSATH STATILNPRD TYCRGDQLDI
LLEVRDHLGQ RKQYGGDFLR ARMSSPALTA GASGKVMDFN NGTYLVSFTL FWEGQVSLSL
LLIHPSEGAS ALWRARNQGY DKIIFKGKFV NGTSHVFTEC GLTLNSNAEL CEYLDDRDQE
AFYCMKPQHM PCEALTYMTT RNREVSYLTD KENSLFHRSK VGVEMMKDRK HIDVTNCNKR
EKIEETCQVG MKPPVPGGYT LQGKWITTFC NQVQLDTIKI NGCLKGKLIY LLGDSTLRQW
IYYFPKVVKT LKFFDLHETG IFKKHLLLDA ERHTQIQWKK HSYPFVTFQL YSLIDHDYIP
REIDRLSGDK NTAIVITFGQ HFRPFPIDIF IRRAIGVQKA IERLFLRSPA TKVIIKTENI
REMHIETERF GDFHGYIHYL IMKDIFKDLN VGIIDAWDMT IAYGTDTIHP PDHVIGNQIN
MFLNYIC
