PCDC1_HUMAN
ID PCDC1_HUMAN Reviewed; 963 AA.
AC Q9H158; Q9Y5F5; Q9Y5I5;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Protocadherin alpha-C1;
DE Short=PCDH-alpha-C1;
DE Flags: Precursor;
GN Name=PCDHAC1;
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 LONG AND SHORT), AND VARIANT VAL-498.
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 LONG).
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.
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=Long;
CC IsoId=Q9H158-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=Q9H158-2; Sequence=VSP_000699, VSP_000700;
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DR EMBL; AF152303; AAD43697.1; -; mRNA.
DR EMBL; AF152473; AAD43734.1; -; mRNA.
DR EMBL; AJ007608; CAC22255.1; -; mRNA.
DR CCDS; CCDS4241.1; -. [Q9H158-1]
DR RefSeq; NP_061721.2; NM_018898.3. [Q9H158-1]
DR AlphaFoldDB; Q9H158; -.
DR SMR; Q9H158; -.
DR BioGRID; 121075; 22.
DR IntAct; Q9H158; 10.
DR STRING; 9606.ENSP00000253807; -.
DR GlyGen; Q9H158; 4 sites.
DR iPTMnet; Q9H158; -.
DR PhosphoSitePlus; Q9H158; -.
DR BioMuta; PCDHAC1; -.
DR DMDM; 143811434; -.
DR EPD; Q9H158; -.
DR jPOST; Q9H158; -.
DR MassIVE; Q9H158; -.
DR PaxDb; Q9H158; -.
DR PeptideAtlas; Q9H158; -.
DR PRIDE; Q9H158; -.
DR ProteomicsDB; 80357; -. [Q9H158-1]
DR Antibodypedia; 45516; 56 antibodies from 12 providers.
DR DNASU; 56135; -.
DR Ensembl; ENST00000253807.3; ENSP00000253807.2; ENSG00000248383.5. [Q9H158-1]
DR Ensembl; ENST00000409700.4; ENSP00000386356.3; ENSG00000248383.5. [Q9H158-2]
DR GeneID; 56135; -.
DR KEGG; hsa:56135; -.
DR MANE-Select; ENST00000253807.3; ENSP00000253807.2; NM_018898.5; NP_061721.2.
DR UCSC; uc003lig.3; human. [Q9H158-1]
DR CTD; 56135; -.
DR DisGeNET; 56135; -.
DR GeneCards; PCDHAC1; -.
DR HGNC; HGNC:8676; PCDHAC1.
DR HPA; ENSG00000248383; Tissue enriched (parathyroid).
DR MIM; 604966; gene.
DR MIM; 606320; gene.
DR neXtProt; NX_Q9H158; -.
DR OpenTargets; ENSG00000248383; -.
DR PharmGKB; PA33022; -.
DR VEuPathDB; HostDB:ENSG00000248383; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165142; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9H158; -.
DR OMA; CCPADEY; -.
DR OrthoDB; 64478at2759; -.
DR PhylomeDB; Q9H158; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9H158; -.
DR SignaLink; Q9H158; -.
DR BioGRID-ORCS; 56135; 12 hits in 1018 CRISPR screens.
DR GenomeRNAi; 56135; -.
DR Pharos; Q9H158; Tdark.
DR PRO; PR:Q9H158; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9H158; protein.
DR Bgee; ENSG00000248383; Expressed in islet of Langerhans and 69 other tissues.
DR Genevisible; Q9H158; 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; IPR031904; Cadherin_CBD.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR InterPro; IPR030742; PCDHAC1.
DR PANTHER; PTHR24028:SF153; PTHR24028:SF153; 1.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF16492; Cadherin_C_2; 1.
DR Pfam; PF15974; Cadherin_tail; 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 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..18
FT /evidence="ECO:0000255"
FT CHAIN 19..963
FT /note="Protocadherin alpha-C1"
FT /id="PRO_0000003910"
FT TOPO_DOM 19..683
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 684..704
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 705..963
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 19..124
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 125..233
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 234..340
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 349..445
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 446..555
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 570..667
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 812..815
FT /note="PXXP 1"
FT REPEAT 845..848
FT /note="PXXP 2"
FT REPEAT 886..889
FT /note="PXXP 3"
FT REPEAT 904..907
FT /note="PXXP 4"
FT REGION 812..907
FT /note="4 X 4 AA repeats of P-X-X-P"
FT REGION 844..963
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 872..886
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 911..925
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 948..963
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 38
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 248
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 274
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 562
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 812..818
FT /note="PRQPNPD -> VSKFYGI (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000699"
FT VAR_SEQ 819..963
FT /note="Missing (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000700"
FT VARIANT 498
FT /note="L -> V (in dbSNP:rs246074)"
FT /evidence="ECO:0000269|PubMed:10380929"
FT /id="VAR_048540"
FT CONFLICT 462..463
FT /note="AS -> PP (in Ref. 2; CAC22255)"
FT /evidence="ECO:0000305"
FT CONFLICT 818
FT /note="D -> E (in Ref. 2; CAC22255)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 963 AA; 103942 MW; 6838EB8566BC6CEC CRC64;
MVGCGVAVLC LWVSCGAAAG QLEYSVPEET ERGVAVGNLS ADLRLPAAAM SSRNFRFLSS
HRELYFGVDL PSGNLVVREP ADREQLCRAK AACVLTYDLV LEDPLELHKI RIHVLDTNDN
SPLFPAGDVQ LHIPEFLTPG ARFTLPNAQD DDEGSNGILS YSLSPSQHFR LDMGSRVDGS
EYPELVLEKA LDREQRATHL LVLTARDGGL PARSGDAQVT IIVVDTNDNA PVFERSVYRT
KVPETAPNGT VLFRVQALDP DEGSNGEVQY SLSNSTQAEL RHRFHVHPKS GEVQVAASLG
PPETLLEAYI EARDEGVFGL ASTAKLLVEV TDVNDHAPEL DFLTLSNPVP EDAAPGTVIA
LFSVKDEDLD SNGRVICGMS SAGPFQLTAS FDNYYSLLID GPLDREQISE YQVLITASDS
GSPPLSTRRT ITVSVADVND NTPNFPQPQQ ELFVAENNGP GASLGRVFAQ DPDLGKNGLV
SYELLDVISE GPSASSLLAV ESSSGAITAK TSFDFEQLRG FHFQVEGRDG GIPPRSATVT
INLFVVDRND NYPVILFPLP RNGSVPVEIV PRSARTGHLV TKVVAEDADS GSNAWLSYHI
SRASDSSLFR ISANIGELRT ARLVLPTDAV KQRVVVVVRD HGDPPLSSSV TLGVLLSNSV
PQLLPDFEDV WEPGGQLSAQ NLYLVIALAC ISFLFLGCLL FFVCTKLHQS PGCCAQSCCR
STEDLRYGSK MVSNPCMTSA TIDVTTVERL SQTYLYRASL GLGSDNNSLL LRGEYNAADL
RNLATGVGLN LPISCIQIRN RKGDHANVNA MPRQPNPDWR YSASLRAGMH SSVHLEEAGI
LRAGPGGPDQ QWPTVSSATP EPEAGEVSPP VGAGVNSNSW TFKYGPGNPK QSGPGELPDK
FIIPGSPAII SIRQEPTNSQ IDKSDFITFG KKEETKKKKK KKKGNKTQEK KEKGNSTTDN
SDQ
