PCDAB_HUMAN
ID PCDAB_HUMAN Reviewed; 949 AA.
AC Q9Y5I1; B2RN58; O75279;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Protocadherin alpha-11;
DE Short=PCDH-alpha-11;
DE Flags: Precursor;
GN Name=PCDHA11; Synonyms=CNRS7;
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 (ISOFORM 1).
RA Kools P.F.J., van Roy F.;
RT "In silico identification and molecular cloning of novel human
RT protocadherin genes having identical 3' exons.";
RL Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- 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=Q9Y5I1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5I1-2; Sequence=VSP_000693, VSP_000694;
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DR EMBL; AF152307; AAD43701.1; -; mRNA.
DR EMBL; AF152476; AAD43737.1; -; mRNA.
DR EMBL; AJ007609; CAC22256.1; -; mRNA.
DR EMBL; AC005609; AAC34316.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW61995.1; -; Genomic_DNA.
DR EMBL; BC136706; AAI36707.1; -; mRNA.
DR CCDS; CCDS47284.1; -. [Q9Y5I1-1]
DR CCDS; CCDS75326.1; -. [Q9Y5I1-2]
DR RefSeq; NP_061725.1; NM_018902.4. [Q9Y5I1-1]
DR RefSeq; NP_114067.1; NM_031861.2. [Q9Y5I1-2]
DR AlphaFoldDB; Q9Y5I1; -.
DR SMR; Q9Y5I1; -.
DR BioGRID; 121078; 19.
DR IntAct; Q9Y5I1; 6.
DR STRING; 9606.ENSP00000381636; -.
DR GlyGen; Q9Y5I1; 3 sites.
DR iPTMnet; Q9Y5I1; -.
DR PhosphoSitePlus; Q9Y5I1; -.
DR BioMuta; PCDHA11; -.
DR DMDM; 13878432; -.
DR EPD; Q9Y5I1; -.
DR jPOST; Q9Y5I1; -.
DR MassIVE; Q9Y5I1; -.
DR PaxDb; Q9Y5I1; -.
DR PeptideAtlas; Q9Y5I1; -.
DR PRIDE; Q9Y5I1; -.
DR Antibodypedia; 57357; 41 antibodies from 11 providers.
DR DNASU; 56138; -.
DR Ensembl; ENST00000398640.7; ENSP00000381636.3; ENSG00000249158.7. [Q9Y5I1-1]
DR Ensembl; ENST00000616325.1; ENSP00000482503.1; ENSG00000249158.7. [Q9Y5I1-2]
DR GeneID; 56138; -.
DR KEGG; hsa:56138; -.
DR MANE-Select; ENST00000398640.7; ENSP00000381636.3; NM_018902.5; NP_061725.1.
DR UCSC; uc003lia.4; human. [Q9Y5I1-1]
DR CTD; 56138; -.
DR DisGeNET; 56138; -.
DR GeneCards; PCDHA11; -.
DR HGNC; HGNC:8665; PCDHA11.
DR HPA; ENSG00000249158; Tissue enhanced (brain, parathyroid gland, retina).
DR MIM; 604966; gene.
DR MIM; 606317; gene.
DR neXtProt; NX_Q9Y5I1; -.
DR OpenTargets; ENSG00000249158; -.
DR PharmGKB; PA33011; -.
DR VEuPathDB; HostDB:ENSG00000249158; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164882; -.
DR HOGENOM; CLU_006480_0_1_1; -.
DR InParanoid; Q9Y5I1; -.
DR OMA; AMAGHCK; -.
DR OrthoDB; 184745at2759; -.
DR PhylomeDB; Q9Y5I1; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5I1; -.
DR SignaLink; Q9Y5I1; -.
DR SIGNOR; Q9Y5I1; -.
DR BioGRID-ORCS; 56138; 6 hits in 1019 CRISPR screens.
DR ChiTaRS; PCDHA11; human.
DR GenomeRNAi; 56138; -.
DR Pharos; Q9Y5I1; Tdark.
DR PRO; PR:Q9Y5I1; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5I1; protein.
DR Bgee; ENSG00000249158; Expressed in cortical plate and 84 other tissues.
DR ExpressionAtlas; Q9Y5I1; baseline and differential.
DR Genevisible; Q9Y5I1; 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; 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..949
FT /note="Protocadherin alpha-11"
FT /id="PRO_0000003904"
FT TOPO_DOM 30..696
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 697..717
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 718..949
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 157..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 243..349
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 350..454
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 455..564
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 580..677
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 733..736
FT /note="PXXP 1"
FT REPEAT 773..776
FT /note="PXXP 2"
FT REPEAT 795..798
FT /note="PXXP 3"
FT REPEAT 831..834
FT /note="PXXP 4"
FT REPEAT 872..875
FT /note="PXXP 5"
FT REPEAT 890..893
FT /note="PXXP 6"
FT REGION 733..893
FT /note="6 X 4 AA repeats of P-X-X-P"
FT REGION 753..807
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 826..949
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 858..872
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 897..911
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 934..949
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 265
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 304
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 547
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 798..810
FT /note="PRQPNPDWRYSAS -> VSFLQIPPIRKCM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000693"
FT VAR_SEQ 811..949
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000694"
FT VARIANT 199
FT /note="S -> Y (in dbSNP:rs10071369)"
FT /id="VAR_048538"
FT VARIANT 418
FT /note="W -> S (in dbSNP:rs17119218)"
FT /id="VAR_048539"
SQ SEQUENCE 949 AA; 103298 MW; 3063589B60A125CB CRC64;
MFGFQRRGLG TPRLQLWLLL LEFWEVGSGQ LHYSVSEEAK HGTFVGRIAQ DLGLELAELV
QRLFRVASKT HGDLLEVNLQ NGILFVNSRI DREELCGQSA ECSIHLEVIV DRPLQVFHVN
VEVKDINDNP PVFSLREQKL LIAESKQSDS RFPLEGASDA DIEENALLTY RLSKNEYFSL
DSPTNGKQIK RLSLILKKSL DREKTPELNL LLTATDGGKP ELTGTVRLLV QVLDVNDNDP
EFDKSEYKVS LMENAAKETL VLKLNATDRD EGVNGEVTYS LMSIKPNGRH LFTLDQNNGE
VRVNGTLDYE ENKFYKIEVQ ATDKGTPPMA GHCTVWVEIL DTNDNSPEVA VTSLSLPVRE
DAQPSTVIAL ISVSDRDSGV NGQVTCSLTP HVPFKLVSTF KNYYSLVLDS ALDRENVWAY
ELVVTARDGG SPSLWATARV SVEVADVNDN APAFAQPEYT VFVKENNPPG CHIFTVSARD
ADAQENALVS YSLVERRLGD RALSSYVSVH AESGKVYALQ PLDHEELELL QFQVSARDAG
VPPLSSNVTL QVFVLDENDN APALLATQAG SAGGAVNKLV PRSVGAGHVV AKVRAVDADS
GYNAWLSYEL QPAAGGSRIP FRVGLYTGEI STTRALDEAD SPRHRLLVLV KDHGEPALTA
TATVLVSLVE SGQAPKASSR TLAGAASPEA ALVDVNVYLI IAICVVSSLL VLTLLLYTAL
WWSATPTEGA CAPGKPTLVC SRAVGSWSYS QQRRQRVCSE EGPPKTDLMA FSPSLPLGLN
KEEEGERQEP GSNHPGQPRQ PNPDWRYSAS LRAGMHSSVH LEEAGILRAG PGGPDQQWPT
VSSATPEPEA GEVSPPVGAG VNSNSWTFKY GPGNPKQSGP GELPDKFIIP GSPAIISIRQ
EPTNSQIDKS DFITFGKKEE TKKKKKKKKG NKTQEKKEKG NSTTDNSDQ
