NXPE2_HUMAN
ID NXPE2_HUMAN Reviewed; 559 AA.
AC Q96DL1; Q2NKI8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=NXPE family member 2;
DE AltName: Full=Protein FAM55B;
GN Name=NXPE2; Synonyms=FAM55B;
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 2).
RC TISSUE=Gastric mucosa;
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 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).
CC -!- INTERACTION:
CC Q96DL1; Q14160: SCRIB; NbExp=2; IntAct=EBI-11791121, EBI-357345;
CC Q96DL1-3; Q9NRY6: PLSCR3; NbExp=3; IntAct=EBI-12128194, EBI-750734;
CC Q96DL1-3; P15884-3: TCF4; NbExp=3; IntAct=EBI-12128194, EBI-13636688;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96DL1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96DL1-3; Sequence=VSP_040454, VSP_040455;
CC -!- MISCELLANEOUS: [Isoform 1]: Gene prediction based on EST data and
CC similarity to mouse ortholog.
CC -!- SIMILARITY: Belongs to the NXPE family. {ECO:0000305}.
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DR EMBL; AK057953; BAB71621.1; -; mRNA.
DR EMBL; AP002774; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS44738.1; -. [Q96DL1-1]
DR RefSeq; NP_872301.2; NM_182495.5. [Q96DL1-1]
DR AlphaFoldDB; Q96DL1; -.
DR BioGRID; 125685; 17.
DR IntAct; Q96DL1; 5.
DR MINT; Q96DL1; -.
DR STRING; 9606.ENSP00000374237; -.
DR PhosphoSitePlus; Q96DL1; -.
DR BioMuta; NXPE2; -.
DR DMDM; 317373363; -.
DR MassIVE; Q96DL1; -.
DR PaxDb; Q96DL1; -.
DR PeptideAtlas; Q96DL1; -.
DR PRIDE; Q96DL1; -.
DR ProteomicsDB; 76292; -. [Q96DL1-1]
DR ProteomicsDB; 76293; -. [Q96DL1-3]
DR Antibodypedia; 66117; 15 antibodies from 7 providers.
DR DNASU; 120406; -.
DR Ensembl; ENST00000389586.6; ENSP00000374237.4; ENSG00000204361.10. [Q96DL1-1]
DR GeneID; 120406; -.
DR KEGG; hsa:120406; -.
DR MANE-Select; ENST00000389586.6; ENSP00000374237.4; NM_182495.6; NP_872301.2.
DR UCSC; uc009yyy.3; human. [Q96DL1-1]
DR CTD; 120406; -.
DR DisGeNET; 120406; -.
DR GeneCards; NXPE2; -.
DR HGNC; HGNC:26331; NXPE2.
DR HPA; ENSG00000204361; Group enriched (epididymis, intestine, salivary gland).
DR neXtProt; NX_Q96DL1; -.
DR OpenTargets; ENSG00000204361; -.
DR VEuPathDB; HostDB:ENSG00000204361; -.
DR eggNOG; ENOG502QW5F; Eukaryota.
DR GeneTree; ENSGT00950000182866; -.
DR HOGENOM; CLU_031119_0_0_1; -.
DR InParanoid; Q96DL1; -.
DR OMA; ILIQWRK; -.
DR OrthoDB; 587284at2759; -.
DR PhylomeDB; Q96DL1; -.
DR TreeFam; TF329555; -.
DR PathwayCommons; Q96DL1; -.
DR SignaLink; Q96DL1; -.
DR BioGRID-ORCS; 120406; 2 hits in 1054 CRISPR screens.
DR ChiTaRS; NXPE2; human.
DR GenomeRNAi; 120406; -.
DR Pharos; Q96DL1; Tdark.
DR PRO; PR:Q96DL1; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96DL1; protein.
DR Bgee; ENSG00000204361; Expressed in calcaneal tendon and 41 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..559
FT /note="NXPE family member 2"
FT /id="PRO_0000297592"
FT TRANSMEM 17..37
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 309..365
FT /note="NKSENIKKNCQIGMKTPFPSGYTLKKMWITAFCKQIKFNETKNINDCLERKL
FT IYLMG -> PALFYFIFRDSLTLSPRLECSGMISAHCNLCLPGSSDSPDSASHVAGITS
FT VQRHTWL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040454"
FT VAR_SEQ 366..559
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040455"
FT VARIANT 103
FT /note="V -> A (in dbSNP:rs11215158)"
FT /id="VAR_034647"
SQ SEQUENCE 559 AA; 64901 MW; 41BDB50754B82757 CRC64;
MVEKILIHRI LTLFPNAIAR KLLLMLTFIL IFWIIYLASK DHTKFSFNLE NHIILNQGNI
FKKYSHSETP LCPAVSPKET ELRIKDIMEK LDQQIPPRPF THVNTTTSAT HSTATILNPQ
DTYCRGDQLD ILLEVRDHLG HRKQYGGDFL RARMYSTALM AGASGKVTDF NNGTYLVSFT
LFWEGQVSLS LLLIHPSEGV SALWRARNQG CDRIIFTGLF ANRSSNVFTE CGLTLNTNAE
LCQYMDDRDQ EAFYCVRPQH MPCEALTHMT TRTRNISYLS KEEWRLFHRS NIGVEMMKNF
TPIEVIPCNK SENIKKNCQI GMKTPFPSGY TLKKMWITAF CKQIKFNETK NINDCLERKL
IYLMGDSTLH QWIYYLQKAV KTLKYFDHHG AGIFKTHVLL DVERHILIQW KKHGHPFVTK
KLFSVKDENY IPREIDQVAG DKNTAIVITL GQHFRPFPIN IFIRRAINIQ KAIERLFLRS
PETKVILKTE NTREIEQNAE MFSDFHGYIQ NLIIRDIFVD LNVGIIDAWD MTIAYCTNNA
HPPDYVIQNQ IGMFLNYIC
