PCX1_HUMAN
ID PCX1_HUMAN Reviewed; 2341 AA.
AC Q96RV3; B2RTR6; O94897; Q96AI7; Q9Y2J9;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Pecanex-like protein 1 {ECO:0000305};
DE AltName: Full=Pecanex homolog protein 1 {ECO:0000312|HGNC:HGNC:19740};
GN Name=PCNX1 {ECO:0000312|HGNC:HGNC:19740};
GN Synonyms=KIAA0805, KIAA0995, PCNX, PCNXL1;
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 [MRNA] (ISOFORM 1).
RA Roux A.-F., Gasca S., Bagheri-Fam S., Saridaki A., Sanoudou D., Ferraz C.,
RA Demaille J., Ferguson-Smith M., Scherer G.;
RT "Cloning, mapping and characterization of PCNXL1, a member of a new family
RT of vertebrate homologs of the Drosophila neurogenic gene pecanex.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1803-2341 (ISOFORM 1/2).
RC TISSUE=Brain, and 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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 943-2341 (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=9872452; DOI=10.1093/dnares/5.5.277;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XI. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:277-286(1998).
RN [6]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [7]
RP IDENTIFICATION BY 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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96RV3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96RV3-2; Sequence=VSP_008401, VSP_008402;
CC Name=3;
CC IsoId=Q96RV3-3; Sequence=VSP_008403;
CC Name=4;
CC IsoId=Q96RV3-4; Sequence=VSP_054500, VSP_054501;
CC -!- SIMILARITY: Belongs to the pecanex family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76839.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF233450; AAK82958.1; -; mRNA.
DR EMBL; AB023212; BAA76839.1; ALT_FRAME; mRNA.
DR EMBL; AC004825; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445903; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005230; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC004817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC017076; AAH17076.2; -; mRNA.
DR EMBL; BC140784; AAI40785.1; -; mRNA.
DR EMBL; AB018348; BAA34525.1; -; mRNA.
DR CCDS; CCDS76695.1; -. [Q96RV3-4]
DR CCDS; CCDS9806.1; -. [Q96RV3-1]
DR RefSeq; NP_001295089.1; NM_001308160.1. [Q96RV3-4]
DR RefSeq; NP_055797.2; NM_014982.2. [Q96RV3-1]
DR AlphaFoldDB; Q96RV3; -.
DR BioGRID; 116638; 12.
DR IntAct; Q96RV3; 4.
DR STRING; 9606.ENSP00000304192; -.
DR GlyGen; Q96RV3; 20 sites, 1 O-linked glycan (4 sites).
DR iPTMnet; Q96RV3; -.
DR PhosphoSitePlus; Q96RV3; -.
DR BioMuta; PCNX1; -.
DR DMDM; 116242705; -.
DR EPD; Q96RV3; -.
DR jPOST; Q96RV3; -.
DR MassIVE; Q96RV3; -.
DR MaxQB; Q96RV3; -.
DR PaxDb; Q96RV3; -.
DR PeptideAtlas; Q96RV3; -.
DR PRIDE; Q96RV3; -.
DR ProteomicsDB; 3448; -.
DR ProteomicsDB; 78042; -. [Q96RV3-1]
DR ProteomicsDB; 78043; -. [Q96RV3-2]
DR ProteomicsDB; 78044; -. [Q96RV3-3]
DR Antibodypedia; 25184; 72 antibodies from 18 providers.
DR DNASU; 22990; -.
DR Ensembl; ENST00000304743.7; ENSP00000304192.2; ENSG00000100731.16. [Q96RV3-1]
DR Ensembl; ENST00000439984.7; ENSP00000396617.3; ENSG00000100731.16. [Q96RV3-4]
DR GeneID; 22990; -.
DR KEGG; hsa:22990; -.
DR MANE-Select; ENST00000304743.7; ENSP00000304192.2; NM_014982.3; NP_055797.2.
DR UCSC; uc001xmo.2; human. [Q96RV3-1]
DR CTD; 22990; -.
DR DisGeNET; 22990; -.
DR GeneCards; PCNX1; -.
DR HGNC; HGNC:19740; PCNX1.
DR HPA; ENSG00000100731; Low tissue specificity.
DR MIM; 617655; gene.
DR neXtProt; NX_Q96RV3; -.
DR OpenTargets; ENSG00000100731; -.
DR PharmGKB; PA134905848; -.
DR VEuPathDB; HostDB:ENSG00000100731; -.
DR eggNOG; KOG3604; Eukaryota.
DR GeneTree; ENSGT00940000157417; -.
DR HOGENOM; CLU_000602_0_1_1; -.
DR InParanoid; Q96RV3; -.
DR OMA; ISTWHRL; -.
DR OrthoDB; 63639at2759; -.
DR PhylomeDB; Q96RV3; -.
DR TreeFam; TF313570; -.
DR PathwayCommons; Q96RV3; -.
DR SignaLink; Q96RV3; -.
DR BioGRID-ORCS; 22990; 11 hits in 1067 CRISPR screens.
DR ChiTaRS; PCNX1; human.
DR GeneWiki; PCNX; -.
DR GenomeRNAi; 22990; -.
DR Pharos; Q96RV3; Tbio.
DR PRO; PR:Q96RV3; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q96RV3; protein.
DR Bgee; ENSG00000100731; Expressed in adrenal tissue and 193 other tissues.
DR ExpressionAtlas; Q96RV3; baseline and differential.
DR Genevisible; Q96RV3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR039797; Pecanex.
DR InterPro; IPR007735; Pecanex_C.
DR PANTHER; PTHR12372; PTHR12372; 1.
DR Pfam; PF05041; Pecanex_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..2341
FT /note="Pecanex-like protein 1"
FT /id="PRO_0000215793"
FT TRANSMEM 28..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..74
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1003..1025
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1032..1049
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1067..1089
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1110..1132
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1160..1182
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1194..1213
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1266..1288
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1295..1312
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 98..163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 270..294
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 311..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 344..689
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 756..834
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2062..2120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2217..2237
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 101..118
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 140..163
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 369..411
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 412..453
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 476..508
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 509..546
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 566..580
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 607..641
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 642..674
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 675..689
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 797..834
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 109
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 215
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 348
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 394
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 702
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 852
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 863
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1091
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1155
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1579
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1720
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1982
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2062
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2072
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2234
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2260
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 771..876
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054500"
FT VAR_SEQ 851..866
FT /note="RNGSVHLEASHDNASA -> SSLLRCMRLVAVICHL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10231032"
FT /id="VSP_008401"
FT VAR_SEQ 867..2341
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10231032"
FT /id="VSP_008402"
FT VAR_SEQ 927..931
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054501"
FT VAR_SEQ 1546..1617
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:9872452"
FT /id="VSP_008403"
FT VARIANT 594
FT /note="A -> T (in dbSNP:rs34222509)"
FT /id="VAR_050478"
FT VARIANT 809
FT /note="L -> I (in dbSNP:rs11625687)"
FT /id="VAR_028305"
FT VARIANT 814
FT /note="L -> I (in dbSNP:rs11625690)"
FT /id="VAR_028306"
FT CONFLICT 2239
FT /note="R -> K (in Ref. 1; AAK82958 and 5; BAA34525)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2341 AA; 258676 MW; 3C38BD853B2F59D1 CRC64;
MGSQTLQILR QGVWAALSGG WYYDPHQATF VNALHLYLWL FLLGLPFTLY MALPSTMIIV
AVYCPVIAAV FIVLKMVNYR LHRALDAGEV VDRTANEFTD QRTKAEQGNC STRRKDSNGP
SDPGGGIEMS EFIREATPPV GCSSRNSYAG LDPSNQIGSG SSRLGTAATI KGDTDTAKTS
DDISLSLGQS SSLCKEGSEE QDLAADRKLF RLVSNDSFIS IQPSLSSCGQ DLPRDFSDKV
NLPSHNHHHH VDQSLSSACD TEVASLVPLH SHSYRKDHRP RGVPRTSSSA VAFPDTSLND
FPLYQQRRGL DPVSELESSK PLSGSKESLV ENSGLSGEFQ LAGDLKINTS QPPTKSGKSK
PLKAEKSMDS LRSLSTRSSG STESYCSGTD RDTNSTVSSY KSEQTSSTHI ESILSEHEES
PKAGTKSGRK KECCAGPEEK NSCASDKRTS SEKIAMEAST NSGVHEAKDP TPSDEMHNQR
GLSTSASEEA NKNPHANEFT SQGDRPPGNT AENKEEKSDK SAVSVDSKVR KDVGGKQKEG
DVRPKSSSVI HRTASAHKSG RRRTGKKRAS SFDSSRHRDY VCFRGVSGTK PHSAIFCHDE
DSSDQSDLSR ASSVQSAHQF SSDSSSSTTS HSCQSPEGRY SALKTKHTHK ERGTDSEHTH
KAHLVPEGTS KKRATRRTSS TNSAKTRARV LSLDSGTVAC LNDSNRLMAP ESIKPLTTSK
SDLEAKEGEV LDELSLLGRA SQLETVTRSR NSLPNQVAFP EGEEQDAVSG AAQASEEAVS
FRRERSTFRR QAVRRRHNAG SNPTPPTLLI GSPLSLQDGQ QGQQSTAQVK VQSRPPSQAA
VLSASASLLV RNGSVHLEAS HDNASAVGGS SLHDELGKFS STLYETGGCD MSLVNFEPAA
RRASNICDTD SHVSSSTSVR FYPHDVLSLP QIRLNRLLTI DTDLLEQQDI DLSPDLAATY
GPTEEAAQKV KHYYRFWILP QLWIGINFDR LTLLALFDRN REILENVLAV ILAILVAFLG
SILLIQGFFR DIWVFQFCLV IASCQYSLLK SVQPDSSSPR HGHNRIIAYS RPVYFCICCG
LIWLLDYGSR NLTATKFKLY GITFTNPLVF ISARDLVIVF TLCFPIVFFI GLLPQVNTFV
MYLCEQLDIH IFGGNATTSL LAALYSFICS IVAVALLYGL CYGALKDSWD GQHIPVLFSI
FCGLLVAVSY HLSRQSSDPS VLFSLVQSKI FPKTEEKNPE DPLSEVKDPL PEKLRNSVSE
RLQSDLVVCI VIGVLYFAIH VSTVFTVLQP ALKYVLYTLV GFVGFVTHYV LPQVRKQLPW
HCFSHPLLKT LEYNQYEVRN AATMMWFEKL HVWLLFVEKN IIYPLIVLNE LSSSAETIAS
PKKLNTELGA LMITVAGLKL LRSSFSSPTY QYVTVIFTVL FFKFDYEAFS ETMLLDLFFM
SILFNKLWEL LYKLQFVYTY IAPWQITWGS AFHAFAQPFA VPHSAMLFIQ AAVSAFFSTP
LNPFLGSAIF ITSYVRPVKF WERDYNTKRV DHSNTRLASQ LDRNPGSDDN NLNSIFYEHL
TRSLQHSLCG DLLLGRWGNY STGDCFILAS DYLNALVHLI EIGNGLVTFQ LRGLEFRGTY
CQQREVEAIT EGVEEDEGFC CCEPGHIPHM LSFNAAFSQR WLAWEVIVTK YILEGYSITD
NSAASMLQVF DLRKVLTTYY VKGIIYYVTT SSKLEEWLAN ETMQEGLRLC ADRNYVDVDP
TFNPNIDEDY DHRLAGISRE SFCVIYLNWI EYCSSRRAKP VDVDKDSSLV TLCYGLCVLG
RRALGTASHH MSSNLESFLY GLHALFKGDF RISSIRDEWI FADMELLRKV VVPGIRMSIK
LHQDHFTSPD EYDDPTVLYE AIVSHEKNLV IAHEGDPAWR SAVLANSPSL LALRHVMDDG
TNEYKIIMLN RRYLSFRVIK VNKECVRGLW AGQQQELVFL RNRNPERGSI QNAKQALRNM
INSSCDQPIG YPIFVSPLTT SYSDSHEQLK DILGGPISLG NIRNFIVSTW HRLRKGCGAG
CNSGGNIEDS DTGGGTSCTG NNATTANNPH SNVTQGSIGN PGQGSGTGLH PPVTSYPPTL
GTSHSSHSVQ SGLVRQSPAR ASVASQSSYC YSSRHSSLRM STTGFVPCRR SSTSQISLRN
LPSSIQSRLS MVNQMEPSGQ SGLACVQHGL PSSSSSSQSI PACKHHTLVG FLATEGGQSS
ATDAQPGNTL SPANNSHSRK AEVIYRVQIV DPSQILEGIN LSKRKELQWP DEGIRLKAGR
NSWKDWSPQE GMEGHVIHRW VPCSRDPGTR SHIDKAVLLV QIDDKYVTVI ETGVLELGAE
V
