ID PCDA6_HUMAN Reviewed; 950 AA.
AC Q9UN73; O75283; Q9NRT8;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 27-MAR-2024, entry version 191.
DE RecName: Full=Protocadherin alpha-6;
DE Short=PCDH-alpha-6;
DE Flags: Precursor;
GN Name=PCDHA6; Synonyms=CNRS2;
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 3).
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 [MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Kools P.F.J., van Roy F.;
RT "Alternative splicing within the human CNR family of protocadherins (PCDH-
RT alpha) produces transcripts encoding secreted proteins.";
RL Submitted (JUL-1999) 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 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 -!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000250}; Single-
CC pass type I membrane protein {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q9UN73-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UN73-2; Sequence=VSP_000681;
CC Name=3;
CC IsoId=Q9UN73-3; Sequence=VSP_000682, VSP_000683;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF89691.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF152314; AAD43708.1; -; mRNA.
DR EMBL; AF152484; AAD43745.1; -; mRNA.
DR EMBL; AF169694; AAF89691.1; ALT_INIT; mRNA.
DR EMBL; AC005609; AAC34320.1; -; Genomic_DNA.
DR EMBL; BC036674; AAH36674.1; -; mRNA.
DR CCDS; CCDS47281.1; -. [Q9UN73-1]
DR CCDS; CCDS47282.1; -. [Q9UN73-2]
DR RefSeq; NP_061732.1; NM_018909.3. [Q9UN73-1]
DR RefSeq; NP_114036.1; NM_031848.2. [Q9UN73-3]
DR RefSeq; NP_114037.1; NM_031849.2. [Q9UN73-2]
DR AlphaFoldDB; Q9UN73; -.
DR SMR; Q9UN73; -.
DR BioGRID; 121082; 7.
DR IntAct; Q9UN73; 5.
DR STRING; 9606.ENSP00000433378; -.
DR GlyCosmos; Q9UN73; 4 sites, No reported glycans.
DR GlyGen; Q9UN73; 4 sites.
DR iPTMnet; Q9UN73; -.
DR PhosphoSitePlus; Q9UN73; -.
DR BioMuta; PCDHA6; -.
DR DMDM; 13878423; -.
DR EPD; Q9UN73; -.
DR jPOST; Q9UN73; -.
DR MassIVE; Q9UN73; -.
DR PaxDb; 9606-ENSP00000433378; -.
DR PeptideAtlas; Q9UN73; -.
DR ProteomicsDB; 85261; -. [Q9UN73-1]
DR ProteomicsDB; 85262; -. [Q9UN73-2]
DR ProteomicsDB; 85263; -. [Q9UN73-3]
DR Antibodypedia; 2260; 259 antibodies from 26 providers.
DR DNASU; 56142; -.
DR Ensembl; ENST00000378126.4; ENSP00000367366.4; ENSG00000081842.18. [Q9UN73-3]
DR Ensembl; ENST00000527624.1; ENSP00000434113.1; ENSG00000081842.18. [Q9UN73-2]
DR Ensembl; ENST00000529310.6; ENSP00000433378.1; ENSG00000081842.18. [Q9UN73-1]
DR Ensembl; ENST00000708301.1; ENSP00000517152.1; ENSG00000291654.1. [Q9UN73-3]
DR Ensembl; ENST00000708302.1; ENSP00000517153.1; ENSG00000291654.1. [Q9UN73-1]
DR Ensembl; ENST00000708303.1; ENSP00000517154.1; ENSG00000291654.1. [Q9UN73-2]
DR GeneID; 56142; -.
DR KEGG; hsa:56142; -.
DR MANE-Select; ENST00000529310.6; ENSP00000433378.1; NM_018909.4; NP_061732.1.
DR UCSC; uc003lhn.4; human. [Q9UN73-1]
DR AGR; HGNC:8672; -.
DR CTD; 56142; -.
DR DisGeNET; 56142; -.
DR GeneCards; PCDHA6; -.
DR HGNC; HGNC:8672; PCDHA6.
DR HPA; ENSG00000081842; Tissue enhanced (brain).
DR MIM; 604966; gene.
DR MIM; 606312; gene.
DR neXtProt; NX_Q9UN73; -.
DR OpenTargets; ENSG00000081842; -.
DR PharmGKB; PA33018; -.
DR VEuPathDB; HostDB:ENSG00000081842; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163903; -.
DR HOGENOM; CLU_006480_0_1_1; -.
DR InParanoid; Q9UN73; -.
DR OMA; YIVLRCQ; -.
DR OrthoDB; 4259465at2759; -.
DR PhylomeDB; Q9UN73; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9UN73; -.
DR SignaLink; Q9UN73; -.
DR SIGNOR; Q9UN73; -.
DR BioGRID-ORCS; 56142; 11 hits in 1098 CRISPR screens.
DR GeneWiki; PCDHA6; -.
DR GenomeRNAi; 56142; -.
DR Pharos; Q9UN73; Tdark.
DR PRO; PR:Q9UN73; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9UN73; Protein.
DR Bgee; ENSG00000081842; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 71 other cell types or tissues.
DR Genevisible; Q9UN73; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc.
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 CDD; cd11304; Cadherin_repeat; 6.
DR Gene3D; 2.60.40.60; Cadherins; 6.
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 PANTHER; PTHR24028; CADHERIN-87A; 1.
DR PANTHER; PTHR24028:SF305; PROTOCADHERIN ALPHA-6-RELATED; 1.
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; Cadherin-like; 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; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..950
FT /note="Protocadherin alpha-6"
FT /id="PRO_0000003894"
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..950
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 34..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..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 799..802
FT /note="PXXP 1"
FT REPEAT 832..835
FT /note="PXXP 2"
FT REPEAT 873..876
FT /note="PXXP 3"
FT REPEAT 891..894
FT /note="PXXP 4"
FT REGION 799..894
FT /note="4 X 4 AA repeats of P-X-X-P"
FT REGION 830..950
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 859..873
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 898..912
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 935..950
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 386
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 535..798
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_000681"
FT VAR_SEQ 799..803
FT /note="PRQPN -> VSEFS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000682"
FT VAR_SEQ 804..950
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000683"
FT VARIANT 585
FT /note="L -> V (in dbSNP:rs60309716)"
FT /id="VAR_061061"
SQ SEQUENCE 950 AA; 102716 MW; 894B97B9737C52B9 CRC64;
MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVRDINDNP PLFPVEEQRV LIYESRLPDS VFPLEGASDA DVGSNSILTY KLSSSEYFGL
DVKINSDDNK QIGLLLKKSL DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS LSVEVADMND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTGGAVSEL VPRSLGAGQV VAKVRAVDAD
SGYNAWLSYE LQPPASSARF PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RASVGAAGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSAPPTEG ACTADKPTLV CSSAVGSWSY SQQRRQRVCS GEGPPKMDLM AFSPSLSPCP
IMMGKAENQD LNEDHDAKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
//
