PCD18_HUMAN
ID PCD18_HUMAN Reviewed; 1135 AA.
AC Q9HCL0; A8K7K3; B7ZKT1; Q52LS2;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Protocadherin-18;
DE Flags: Precursor;
GN Name=PCDH18; Synonyms=KIAA1562;
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=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Spleen;
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 [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] (ISOFORMS 1 AND 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).
RN [5]
RP GENE STRUCTURE, AND TISSUE SPECIFICITY.
RX PubMed=11549318; DOI=10.1006/geno.2001.6592;
RA Wolverton T., Lalande M.;
RT "Identification and characterization of three members of a novel subclass
RT of protocadherins.";
RL Genomics 76:66-72(2001).
CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein.
CC -!- SUBUNIT: Interacts with DAB1. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9HCL0; Q9UMX0: UBQLN1; NbExp=6; IntAct=EBI-2949740, EBI-741480;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9HCL0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HCL0-2; Sequence=VSP_035648;
CC -!- TISSUE SPECIFICITY: Expressed in all tissues, with highest expression
CC in lung and ovary. {ECO:0000269|PubMed:11549318}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB13388.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB046782; BAB13388.1; ALT_INIT; mRNA.
DR EMBL; AK292018; BAF84707.1; -; mRNA.
DR EMBL; AC142278; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC144556; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093815; AAH93815.1; -; mRNA.
DR EMBL; BC143361; AAI43362.1; -; mRNA.
DR CCDS; CCDS34064.1; -. [Q9HCL0-1]
DR CCDS; CCDS75193.1; -. [Q9HCL0-2]
DR RefSeq; NP_001287757.1; NM_001300828.1. [Q9HCL0-2]
DR RefSeq; NP_061908.1; NM_019035.4. [Q9HCL0-1]
DR PDB; 6VFR; X-ray; 2.79 A; A/B=28-457.
DR PDBsum; 6VFR; -.
DR AlphaFoldDB; Q9HCL0; -.
DR SMR; Q9HCL0; -.
DR BioGRID; 120005; 9.
DR IntAct; Q9HCL0; 8.
DR MINT; Q9HCL0; -.
DR STRING; 9606.ENSP00000355082; -.
DR GlyGen; Q9HCL0; 6 sites.
DR iPTMnet; Q9HCL0; -.
DR PhosphoSitePlus; Q9HCL0; -.
DR BioMuta; PCDH18; -.
DR DMDM; 212276496; -.
DR EPD; Q9HCL0; -.
DR jPOST; Q9HCL0; -.
DR MassIVE; Q9HCL0; -.
DR PaxDb; Q9HCL0; -.
DR PeptideAtlas; Q9HCL0; -.
DR PRIDE; Q9HCL0; -.
DR ProteomicsDB; 81750; -. [Q9HCL0-1]
DR ProteomicsDB; 81751; -. [Q9HCL0-2]
DR Antibodypedia; 2719; 104 antibodies from 22 providers.
DR DNASU; 54510; -.
DR Ensembl; ENST00000344876.9; ENSP00000355082.4; ENSG00000189184.12. [Q9HCL0-1]
DR Ensembl; ENST00000412923.6; ENSP00000390688.2; ENSG00000189184.12. [Q9HCL0-2]
DR GeneID; 54510; -.
DR KEGG; hsa:54510; -.
DR MANE-Select; ENST00000344876.9; ENSP00000355082.4; NM_019035.5; NP_061908.1.
DR UCSC; uc003ihe.5; human. [Q9HCL0-1]
DR CTD; 54510; -.
DR DisGeNET; 54510; -.
DR GeneCards; PCDH18; -.
DR HGNC; HGNC:14268; PCDH18.
DR HPA; ENSG00000189184; Tissue enhanced (placenta).
DR MIM; 608287; gene.
DR neXtProt; NX_Q9HCL0; -.
DR OpenTargets; ENSG00000189184; -.
DR PharmGKB; PA33002; -.
DR VEuPathDB; HostDB:ENSG00000189184; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000156295; -.
DR HOGENOM; CLU_006480_1_2_1; -.
DR InParanoid; Q9HCL0; -.
DR OMA; HVSAKII; -.
DR PhylomeDB; Q9HCL0; -.
DR TreeFam; TF352008; -.
DR PathwayCommons; Q9HCL0; -.
DR SignaLink; Q9HCL0; -.
DR BioGRID-ORCS; 54510; 12 hits in 1058 CRISPR screens.
DR ChiTaRS; PCDH18; human.
DR GeneWiki; PCDH18; -.
DR GenomeRNAi; 54510; -.
DR Pharos; Q9HCL0; Tbio.
DR PRO; PR:Q9HCL0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9HCL0; protein.
DR Bgee; ENSG00000189184; Expressed in stromal cell of endometrium and 176 other tissues.
DR ExpressionAtlas; Q9HCL0; baseline and differential.
DR Genevisible; Q9HCL0; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0007420; P:brain development; ISS:UniProtKB.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR InterPro; IPR030714; Protocadherin-18.
DR PANTHER; PTHR24028:SF9; PTHR24028:SF9; 1.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 6.
DR SUPFAM; SSF49313; SSF49313; 5.
DR PROSITE; PS00232; CADHERIN_1; 5.
DR PROSITE; PS50268; CADHERIN_2; 6.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Calcium; Cell adhesion; Cell membrane;
KW Glycoprotein; Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..1135
FT /note="Protocadherin-18"
FT /id="PRO_0000004002"
FT TOPO_DOM 28..699
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 700..720
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 721..1135
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 28..137
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 138..246
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 247..354
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 361..465
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 466..576
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 582..688
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 769..800
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 869..889
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 893..1135
FT /note="Interaction with DAB1"
FT /evidence="ECO:0000250"
FT REGION 942..1003
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1023..1046
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 952..967
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 968..995
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 103
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 269
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 420
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 559
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 583
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 641
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 830
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_035648"
FT STRAND 29..35
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 43..46
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 47..50
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 52..55
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 58..60
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 61..63
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 65..69
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 76..79
FT /evidence="ECO:0007829|PDB:6VFR"
FT TURN 81..83
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 85..88
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 94..98
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 105..115
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 120..128
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 140..147
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 155..157
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 167..169
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 170..176
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 180..188
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 194..200
FT /evidence="ECO:0007829|PDB:6VFR"
FT TURN 206..208
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 211..220
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 227..237
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 245..247
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 249..256
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 264..267
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 276..279
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 281..285
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 291..296
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 297..299
FT /evidence="ECO:0007829|PDB:6VFR"
FT TURN 301..303
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 305..310
FT /evidence="ECO:0007829|PDB:6VFR"
FT TURN 314..316
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 319..330
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 336..345
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 353..357
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 380..385
FT /evidence="ECO:0007829|PDB:6VFR"
FT HELIX 390..393
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 395..399
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 405..411
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 414..419
FT /evidence="ECO:0007829|PDB:6VFR"
FT TURN 425..427
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 430..440
FT /evidence="ECO:0007829|PDB:6VFR"
FT STRAND 446..454
FT /evidence="ECO:0007829|PDB:6VFR"
SQ SEQUENCE 1135 AA; 126149 MW; 7C268409AC3EEB7D CRC64;
MHQMNAKMHF RFVFALLIVS FNHDVLGKNL KYRIYEEQRV GSVIARLSED VADVLLKLPN
PSTVRFRAMQ RGNSPLLVVN EDNGEISIGA TIDREQLCQK NLNCSIEFDV ITLPTEHLQL
FHIEVEVLDI NDNSPQFSRS LIPIEISESA AVGTRIPLDS AFDPDVGENS LHTYSLSAND
FFNIEVRTRT DGAKYAELIV VRELDRELKS SYELQLTASD MGVPQRSGSS ILKISISDSN
DNSPAFEQQS YIIQLLENSP VGTLLLDLNA TDPDEGANGK IVYSFSSHVS PKIMETFKID
SERGHLTLFK QVDYEITKSY EIDVQAQDLG PNSIPAHCKI IIKVVDVNDN KPEININLMS
PGKEEISYIF EGDPIDTFVA LVRVQDKDSG LNGEIVCKLH GHGHFKLQKT YENNYLILTN
ATLDREKRSE YSLTVIAEDR GTPSLSTVKH FTVQINDIND NPPHFQRSRY EFVISENNSP
GAYITTVTAT DPDLGENGQV TYTILESFIL GSSITTYVTI DPSNGAIYAL RIFDHEEVSQ
ITFVVEARDG GSPKQLVSNT TVVLTIIDEN DNVPVVIGPA LRNNTAEITI PKGAESGFHV
TRIRAIDRDS GVNAELSCAI VAGNEENIFI IDPRSCDIHT NVSMDSVPYT EWELSVIIQD
KGNPQLHTKV LLKCMIFEYA ESVTSTAMTS VSQASLDVSM IIIISLGAIC AVLLVIMVLF
ATRCNREKKD TRSYNCRVAE STYQHHPKRP SRQIHKGDIT LVPTINGTLP IRSHHRSSPS
SSPTLERGQM GSRQSHNSHQ SLNSLVTISS NHVPENFSLE LTHATPAVEQ VSQLLSMLHQ
GQYQPRPSFR GNKYSRSYRY ALQDMDKFSL KDSGRGDSEA GDSDYDLGRD SPIDRLLGEG
FSDLFLTDGR IPAAMRLCTE ECRVLGHSDQ CWMPPLPSPS SDYRSNMFIP GEEFPTQPQQ
QHPHQSLEDD AQPADSGEKK KSFSTFGKDS PNDEDTGDTS TSSLLSEMSS VFQRLLPPSL
DTYSECSEVD RSNSLERRKG PLPAKTVGYP QGVAAWAAST HFQNPTTNCG PPLGTHSSVQ
PSSKWLPAME EIPENYEEDD FDNVLNHLND GKHELMDASE LVAEINKLLQ DVRQS
