PCDBC_HUMAN
ID PCDBC_HUMAN Reviewed; 795 AA.
AC Q9Y5F1; B4DDU1;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Protocadherin beta-12;
DE Short=PCDH-beta-12;
DE Flags: Precursor;
GN Name=PCDHB12;
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).
RX PubMed=10380929; DOI=10.1016/s0092-8674(00)80789-8;
RA Wu Q., Maniatis T.;
RT "A striking organization of a large family of human neural cadherin-like
RT cell adhesion genes.";
RL Cell 97:779-790(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11322959; DOI=10.1016/s0014-5793(01)02372-9;
RA Vanhalst K., Kools P., Vanden Eynde E., van Roy F.;
RT "The human and murine protocadherin-beta one-exon gene families show high
RT evolutionary conservation, despite the difference in gene number.";
RL FEBS Lett. 495:120-125(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 -!- FUNCTION: Potential calcium-dependent cell-adhesion protein. May be
CC involved in the establishment and maintenance of specific neuronal
CC connections in the brain.
CC -!- INTERACTION:
CC Q9Y5F1; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-12012016, EBI-2548012;
CC Q9Y5F1; P0C7W6: CCDC172; NbExp=3; IntAct=EBI-12012016, EBI-2548868;
CC Q9Y5F1; Q9BT78: COPS4; NbExp=3; IntAct=EBI-12012016, EBI-742413;
CC Q9Y5F1; Q15006: EMC2; NbExp=3; IntAct=EBI-12012016, EBI-359031;
CC Q9Y5F1; P23527: H2BC17; NbExp=3; IntAct=EBI-12012016, EBI-1642161;
CC Q9Y5F1; P08727: KRT19; NbExp=3; IntAct=EBI-12012016, EBI-742756;
CC Q9Y5F1; Q9Y6N9-4: USH1C; NbExp=3; IntAct=EBI-12012016, EBI-11523636;
CC Q9Y5F1; Q3MJ62: ZSCAN23; NbExp=3; IntAct=EBI-12012016, EBI-5667532;
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=Q9Y5F1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5F1-2; Sequence=VSP_053862;
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DR EMBL; AF152491; AAD43752.1; -; mRNA.
DR EMBL; AF217746; AAK51614.1; -; mRNA.
DR EMBL; AK293336; BAG56852.1; -; mRNA.
DR EMBL; AK316160; BAH14531.1; -; mRNA.
DR EMBL; AC005752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045637; AAH45637.1; -; mRNA.
DR CCDS; CCDS4254.1; -. [Q9Y5F1-1]
DR RefSeq; NP_061755.1; NM_018932.3. [Q9Y5F1-1]
DR AlphaFoldDB; Q9Y5F1; -.
DR SMR; Q9Y5F1; -.
DR BioGRID; 121064; 14.
DR IntAct; Q9Y5F1; 10.
DR STRING; 9606.ENSP00000239450; -.
DR GlyGen; Q9Y5F1; 4 sites.
DR iPTMnet; Q9Y5F1; -.
DR PhosphoSitePlus; Q9Y5F1; -.
DR BioMuta; PCDHB12; -.
DR DMDM; 13431382; -.
DR jPOST; Q9Y5F1; -.
DR MassIVE; Q9Y5F1; -.
DR PaxDb; Q9Y5F1; -.
DR PeptideAtlas; Q9Y5F1; -.
DR PRIDE; Q9Y5F1; -.
DR ProteomicsDB; 3891; -.
DR ProteomicsDB; 86350; -. [Q9Y5F1-1]
DR Antibodypedia; 27227; 108 antibodies from 22 providers.
DR DNASU; 56124; -.
DR Ensembl; ENST00000239450.4; ENSP00000239450.2; ENSG00000120328.6. [Q9Y5F1-1]
DR Ensembl; ENST00000624949.1; ENSP00000485303.1; ENSG00000120328.6. [Q9Y5F1-2]
DR GeneID; 56124; -.
DR KEGG; hsa:56124; -.
DR MANE-Select; ENST00000239450.4; ENSP00000239450.2; NM_018932.4; NP_061755.1.
DR UCSC; uc003liz.4; human. [Q9Y5F1-1]
DR CTD; 56124; -.
DR GeneCards; PCDHB12; -.
DR HGNC; HGNC:8683; PCDHB12.
DR HPA; ENSG00000120328; Low tissue specificity.
DR MIM; 604967; gene.
DR MIM; 606338; gene.
DR neXtProt; NX_Q9Y5F1; -.
DR OpenTargets; ENSG00000120328; -.
DR PharmGKB; PA33028; -.
DR VEuPathDB; HostDB:ENSG00000120328; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163201; -.
DR HOGENOM; CLU_558484_0_0_1; -.
DR InParanoid; Q9Y5F1; -.
DR OMA; KIVCSVP; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5F1; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5F1; -.
DR SignaLink; Q9Y5F1; -.
DR BioGRID-ORCS; 56124; 11 hits in 1027 CRISPR screens.
DR GeneWiki; PCDHB12; -.
DR GenomeRNAi; 56124; -.
DR Pharos; Q9Y5F1; Tdark.
DR PRO; PR:Q9Y5F1; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5F1; protein.
DR Bgee; ENSG00000120328; Expressed in cortical plate and 98 other tissues.
DR ExpressionAtlas; Q9Y5F1; baseline and differential.
DR Genevisible; Q9Y5F1; 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:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR032455; Cadherin_C.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR InterPro; IPR030734; PCDHB11/12.
DR PANTHER; PTHR24028:SF286; PTHR24028:SF286; 1.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF16492; Cadherin_C_2; 1.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 6.
DR SUPFAM; SSF49313; SSF49313; 6.
DR PROSITE; PS00232; CADHERIN_1; 5.
DR PROSITE; PS50268; CADHERIN_2; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..795
FT /note="Protocadherin beta-12"
FT /id="PRO_0000003936"
FT TOPO_DOM 27..690
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 691..711
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 712..795
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 35..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 138..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 247..347
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 352..451
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 456..561
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 568..671
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT CARBOHYD 418
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 436
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 487
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 567
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..337
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053862"
FT VARIANT 420
FT /note="T -> I (in dbSNP:rs2910327)"
FT /id="VAR_033710"
FT VARIANT 763
FT /note="K -> E (in dbSNP:rs2910006)"
FT /id="VAR_048554"
SQ SEQUENCE 795 AA; 86770 MW; 0A32163F81A0D37C CRC64;
MENGGAGTLQ IRQVLLFFVL LGMSQAGSET GNFLVMEELQ SGSFVGNLAK TLGLEVSELS
SRGARVVSND NKECLQLDTN TGDLLLREML DREELCGSNE PCVLYFQVLM KNPTQFLQIE
LQVRDINDHS PVFLEKEMLL EIPENSPVGA VFLLESAKDL DVGINAVKSY TINPNSHFHV
KIRVNPDNRK YPELVLDKAL DYEERPELSF ILTALDGGSP PRSGTALVRV VVVDINDNSP
EFEQAFYEVK ILENSILGSL VVTVSAWDLD SGTNSELSYT FSHASEDIRK TFEINQKSGD
ITLTAPLDFE AIESYSIIIQ ATDGGGLFGK STVRIQVMDV NDNAPEITVS SITSPIPENT
PETVVMVFRI RDRDSGDNGK MVCSIPEDIP FVLKSSVNNY YTLETERPLD RESRAEYNIT
ITVTDLGTPR LKTEHNITVL VSDVNDNAPA FTQTSYALFV RENNSPALHI GSISATDRDS
GTNAQVNYSL LPSQDPHLPL ASLVSINADN GHLFALRSLD YEALQGFQFR VGATDHGSPA
LSSEALVRVL VLDANDNSPF VLYPLQNGSA PCTELVPWAA EPGYLVTKVV AVDGDSGQNA
WLSYQLLKAT EPGLFGVWAH NGEVRTARLL SERDAAKHRL VVLVKDNGEP PRSATATLHV
LLVDGFSQPY LPLPEAAPAQ AQADSLTVYL VVALASVSSL FLFSVLLFVA VRLCRRSRAA
PVGRCSVPEG PFPGHLVDVS GTGTLSQSYH YEVCVTGGSR SNKFKFLKPI IPNFLPQSTG
SEVEENPPFQ NNLGF
