PCDAC_HUMAN
ID PCDAC_HUMAN Reviewed; 941 AA.
AC Q9UN75; O75278; Q2M1N8;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Protocadherin alpha-12;
DE Short=PCDH-alpha-12;
DE Flags: Precursor;
GN Name=PCDHA12;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 [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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
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 -!- 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=Q9UN75-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UN75-2; Sequence=VSP_000695, VSP_000696;
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DR EMBL; AF152308; AAD43702.1; -; mRNA.
DR EMBL; AF152477; AAD43738.1; -; mRNA.
DR EMBL; AC005609; AAC34315.1; -; Genomic_DNA.
DR EMBL; BC112280; AAI12281.1; -; mRNA.
DR EMBL; BC113372; AAI13373.1; -; mRNA.
DR CCDS; CCDS47285.1; -. [Q9UN75-1]
DR CCDS; CCDS75327.1; -. [Q9UN75-2]
DR RefSeq; NP_061726.1; NM_018903.3. [Q9UN75-1]
DR RefSeq; NP_114070.1; NM_031864.2. [Q9UN75-2]
DR AlphaFoldDB; Q9UN75; -.
DR SMR; Q9UN75; -.
DR BioGRID; 121077; 57.
DR IntAct; Q9UN75; 34.
DR STRING; 9606.ENSP00000381628; -.
DR GlyConnect; 1675; 1 N-Linked glycan (1 site).
DR GlyGen; Q9UN75; 3 sites, 1 N-linked glycan (1 site).
DR iPTMnet; Q9UN75; -.
DR PhosphoSitePlus; Q9UN75; -.
DR BioMuta; PCDHA12; -.
DR DMDM; 13878425; -.
DR EPD; Q9UN75; -.
DR jPOST; Q9UN75; -.
DR MassIVE; Q9UN75; -.
DR PaxDb; Q9UN75; -.
DR PeptideAtlas; Q9UN75; -.
DR PRIDE; Q9UN75; -.
DR ProteomicsDB; 85266; -. [Q9UN75-1]
DR ProteomicsDB; 85267; -. [Q9UN75-2]
DR Antibodypedia; 45507; 160 antibodies from 23 providers.
DR DNASU; 56137; -.
DR Ensembl; ENST00000398631.3; ENSP00000381628.2; ENSG00000251664.5. [Q9UN75-1]
DR Ensembl; ENST00000613593.1; ENSP00000481404.1; ENSG00000251664.5. [Q9UN75-2]
DR GeneID; 56137; -.
DR KEGG; hsa:56137; -.
DR MANE-Select; ENST00000398631.3; ENSP00000381628.2; NM_018903.4; NP_061726.1.
DR UCSC; uc003lic.4; human. [Q9UN75-1]
DR CTD; 56137; -.
DR DisGeNET; 56137; -.
DR GeneCards; PCDHA12; -.
DR HGNC; HGNC:8666; PCDHA12.
DR HPA; ENSG00000251664; Tissue enhanced (brain).
DR MIM; 604966; gene.
DR MIM; 606318; gene.
DR neXtProt; NX_Q9UN75; -.
DR OpenTargets; ENSG00000251664; -.
DR PharmGKB; PA33012; -.
DR VEuPathDB; HostDB:ENSG00000251664; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164036; -.
DR HOGENOM; CLU_006480_0_1_1; -.
DR InParanoid; Q9UN75; -.
DR OMA; HYELHEG; -.
DR OrthoDB; 184745at2759; -.
DR PhylomeDB; Q9UN75; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9UN75; -.
DR SignaLink; Q9UN75; -.
DR SIGNOR; Q9UN75; -.
DR BioGRID-ORCS; 56137; 13 hits in 1021 CRISPR screens.
DR GeneWiki; PCDHA12; -.
DR GenomeRNAi; 56137; -.
DR Pharos; Q9UN75; Tdark.
DR PRO; PR:Q9UN75; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9UN75; protein.
DR Bgee; ENSG00000251664; Expressed in cortical plate and 62 other tissues.
DR ExpressionAtlas; Q9UN75; baseline and differential.
DR Genevisible; Q9UN75; 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; IEA:UniProt.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR031904; Cadherin_CBD.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF15974; Cadherin_tail; 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 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..941
FT /note="Protocadherin alpha-12"
FT /id="PRO_0000003906"
FT TOPO_DOM 30..697
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 698..718
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 719..941
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 134..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 243..350
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 351..455
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 456..565
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 581..678
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 734..737
FT /note="PXXP 1"
FT REPEAT 790..793
FT /note="PXXP 2"
FT REPEAT 823..826
FT /note="PXXP 3"
FT REPEAT 863..866
FT /note="PXXP 4"
FT REPEAT 882..885
FT /note="PXXP 5"
FT REGION 734..885
FT /note="5 X 4 AA repeats of P-X-X-P"
FT REGION 818..941
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 850..864
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 889..903
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 926..941
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 257
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 265
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 548
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 790..792
FT /note="PRQ -> VSY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000695"
FT VAR_SEQ 793..941
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000696"
SQ SEQUENCE 941 AA; 101652 MW; 284D4DE7333E10CA CRC64;
MVIIGPRGPG SQRLLLSLLL LAAWEVGSGQ LHYSVYEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREKLCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFREREQKV PVSESAPLDS HFPLEGASDA DIGVNSLLTY ALSLNENFEL
KIKTKKDKSI LPELVLRKLL DREQTPKLNL LLMVIDGGKP ELTGSVQIQI TVLDVNDNGP
AFDKPSYKVV LSENVQNDTR VIQLNASDPD EGLNGEISYG IKMILPVSEK CMFSINPDTG
EIRIYGELDF EENNAYEIQV NAIDKGIPSM AGHSMVLVEV LDVNDNVPEV MVTSLSLPVQ
EDAQVGTVIA LISVSDRDSG ANGQVICSLT PHVPFKLVST YKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAW
DADAQKNALV SYSLVERRVG EHALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLATPA GSAGGAVSEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAAVGAHI PFHVGLYTGE ISTTRILDEA DAPRHRLLVL VKDHGEPALT
STATVLVSLV ENGQAPKTSS RASVGAVDPE AALVDINVYL IIAICAVSSL LVLTLLLYTA
LRCSAPPTVS RCAPGKPTLV CSSAVGSWSY SQQRRQRVCS AESPPKTDLM AFSPSLQLSR
EDCLNPPSEP RQPNPDWRYS ASLRAGMHSS VHLEEAGILR AGPGGPDQQW PTVSSATPEP
EAGEVSPPVG AGVNSNSWTF KYGPGNPKQS GPGELPDKFI IPGSPAIISI RQEPTNSQID
KSDFITFGKK EETKKKKKKK KGNKTQEKKE KGNSTTDNSD Q
