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Protocadherin-1 (Cadherin-like protein 1) (Protocadherin-42) (PC42)

 PCDH1_HUMAN             Reviewed;        1060 AA.
Q08174; Q8IUP2;
19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
25-NOV-2008, sequence version 2.
18-JUL-2018, entry version 157.
RecName: Full=Protocadherin-1;
AltName: Full=Cadherin-like protein 1;
AltName: Full=Protocadherin-42;
Short=PC42;
Flags: Precursor;
Name=PCDH1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T.,
Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M.,
Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K.,
Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C.,
Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M.,
Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A.,
Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M.,
Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M.,
Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S.,
Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 10-1060 (ISOFORM 1), NUCLEOTIDE SEQUENCE
[MRNA] OF 980-1060 (ISOFORM 2), AND VARIANT PRO-25.
TISSUE=Brain;
PubMed=8508762;
Sano K., Tanihara H., Heimark R.L., Obata S., Davidson M., St John T.,
Taketani S., Suzuki S.;
"Protocadherins: a large family of cadherin-related molecules in
central nervous system.";
EMBO J. 12:2249-2256(1993).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-949 AND SER-962, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[6]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-305; ASN-813 AND ASN-818.
TISSUE=Liver;
PubMed=19159218; DOI=10.1021/pr8008012;
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of
multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
[7]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-918; SER-962 AND
SER-984, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
PubMed=21406692; DOI=10.1126/scisignal.2001570;
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
Blagoev B.;
"System-wide temporal characterization of the proteome and
phosphoproteome of human embryonic stem cell differentiation.";
Sci. Signal. 4:RS3-RS3(2011).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1173 (ISOFORM 2), AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
-!- FUNCTION: May be involved in cell-cell interaction processes and
in cell adhesion.
-!- SUBCELLULAR LOCATION: Cell junction. Cell membrane {ECO:0000305};
Single-pass type I membrane protein {ECO:0000305}. Note=Found at
cell-cell boundaries and probably at cell-matrix boundaries.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q08174-1; Sequence=Displayed;
Name=2; Synonyms=PC42-8;
IsoId=Q08174-2; Sequence=VSP_000703;
Note=Ref.4 (AAA36418) sequence is in conflict in position:
1156:V->M. Contains a phosphoserine at position 1173.
{ECO:0000244|PubMed:24275569, ECO:0000305};
-!- TISSUE SPECIFICITY: Highly expressed in the brain and neuro-glial
cells.
-!- DEVELOPMENTAL STAGE: Highest expression in adults.
-!- CAUTION: It is uncertain whether Met-1 or Met-23 is the initiator.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAA36419.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AC094107; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471062; EAW61902.1; -; Genomic_DNA.
EMBL; BC035812; AAH35812.1; -; mRNA.
EMBL; L11369; AAA36418.1; -; mRNA.
EMBL; L11370; AAA36419.1; ALT_SEQ; mRNA.
CCDS; CCDS4267.1; -. [Q08174-2]
CCDS; CCDS43375.1; -. [Q08174-1]
RefSeq; NP_001265542.1; NM_001278613.1.
RefSeq; NP_001265544.1; NM_001278615.1.
RefSeq; NP_002578.2; NM_002587.4. [Q08174-1]
RefSeq; NP_115796.2; NM_032420.3. [Q08174-2]
UniGene; Hs.79769; -.
ProteinModelPortal; Q08174; -.
SMR; Q08174; -.
BioGrid; 111130; 12.
IntAct; Q08174; 10.
MINT; Q08174; -.
STRING; 9606.ENSP00000287008; -.
iPTMnet; Q08174; -.
PhosphoSitePlus; Q08174; -.
BioMuta; PCDH1; -.
DMDM; 215273864; -.
EPD; Q08174; -.
MaxQB; Q08174; -.
PaxDb; Q08174; -.
PeptideAtlas; Q08174; -.
PRIDE; Q08174; -.
ProteomicsDB; 58575; -.
ProteomicsDB; 58576; -. [Q08174-2]
DNASU; 5097; -.
Ensembl; ENST00000287008; ENSP00000287008; ENSG00000156453. [Q08174-2]
Ensembl; ENST00000394536; ENSP00000378043; ENSG00000156453. [Q08174-1]
GeneID; 5097; -.
KEGG; hsa:5097; -.
UCSC; uc003llp.4; human. [Q08174-1]
CTD; 5097; -.
DisGeNET; 5097; -.
EuPathDB; HostDB:ENSG00000156453.13; -.
GeneCards; PCDH1; -.
HGNC; HGNC:8655; PCDH1.
HPA; HPA047720; -.
HPA; HPA050538; -.
MIM; 603626; gene.
neXtProt; NX_Q08174; -.
OpenTargets; ENSG00000156453; -.
PharmGKB; PA32994; -.
eggNOG; ENOG410II7Q; Eukaryota.
eggNOG; ENOG410XPHP; LUCA.
GeneTree; ENSGT00920000148958; -.
HOGENOM; HOG000234535; -.
HOVERGEN; HBG053523; -.
InParanoid; Q08174; -.
KO; K16498; -.
OMA; FPDVGHL; -.
OrthoDB; EOG091G011P; -.
PhylomeDB; Q08174; -.
TreeFam; TF320624; -.
ChiTaRS; PCDH1; human.
GeneWiki; PCDH1; -.
GenomeRNAi; 5097; -.
PRO; PR:Q08174; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000156453; -.
CleanEx; HS_PCDH1; -.
ExpressionAtlas; Q08174; baseline and differential.
Genevisible; Q08174; HS.
GO; GO:0030054; C:cell junction; IDA:HPA.
GO; GO:0005911; C:cell-cell junction; TAS:ProtInc.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
GO; GO:0005730; C:nucleolus; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0005886; C:plasma membrane; TAS:ProtInc.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
InterPro; IPR002126; Cadherin.
InterPro; IPR015919; Cadherin-like.
InterPro; IPR020894; Cadherin_CS.
InterPro; IPR013164; Cadherin_N.
InterPro; IPR013585; Protocadherin.
Pfam; PF00028; Cadherin; 6.
Pfam; PF08266; Cadherin_2; 1.
Pfam; PF08374; Protocadherin; 1.
PRINTS; PR00205; CADHERIN.
SMART; SM00112; CA; 6.
SUPFAM; SSF49313; SSF49313; 6.
PROSITE; PS00232; CADHERIN_1; 6.
PROSITE; PS50268; CADHERIN_2; 7.
1: Evidence at protein level;
Alternative splicing; Calcium; Cell adhesion; Cell junction;
Cell membrane; Complete proteome; Glycoprotein; Membrane;
Phosphoprotein; Polymorphism; Reference proteome; Repeat; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 57 {ECO:0000255}.
CHAIN 58 1060 Protocadherin-1.
/FTId=PRO_0000354078.
TOPO_DOM 58 852 Extracellular. {ECO:0000255}.
TRANSMEM 853 873 Helical. {ECO:0000255}.
TOPO_DOM 874 1060 Cytoplasmic. {ECO:0000255}.
DOMAIN 58 168 Cadherin 1. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 169 280 Cadherin 2. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 281 387 Cadherin 3. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 396 506 Cadherin 4. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 507 612 Cadherin 5. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 613 715 Cadherin 6. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 718 844 Cadherin 7. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
MOD_RES 918 918 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 949 949 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 962 962 Phosphoserine.
{ECO:0000244|PubMed:18669648,
ECO:0000244|PubMed:21406692}.
MOD_RES 984 984 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
CARBOHYD 305 305 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
CARBOHYD 403 403 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 618 618 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 662 662 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 813 813 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
CARBOHYD 818 818 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19159218}.
VAR_SEQ 1034 1060 VGQPFQLSTPQPLPHPYHGAIWTEVWE -> LPHRRVTFSA
TSQAQELQDPSQHSYYDSGLEESETPSSKSSSGPRLGPLAL
PEDHYERTTPDGSIGEMEHPENDLRPLPDVAMTGTCTRECS
EFGHSDTCWMPGQSSPSRRTKSSALKLSTFVPYQDRGGQEP
AGAGSPSPPEDRNTKTAPVRLLPSYSAFSHSSHDSCKDSAT
LEEIPLTQTSDFPPAATPASAQTAKREIYL (in
isoform 2). {ECO:0000303|PubMed:8508762}.
/FTId=VSP_000703.
VARIANT 15 15 L -> F (in dbSNP:rs12517385).
/FTId=VAR_047530.
VARIANT 25 25 H -> P (in dbSNP:rs12515587).
{ECO:0000269|PubMed:8508762}.
/FTId=VAR_047531.
VARIANT 514 514 A -> T (in dbSNP:rs3822357).
/FTId=VAR_047532.
CONFLICT 147 147 G -> A (in Ref. 4; AAA36419).
{ECO:0000305}.
CONFLICT 262 262 S -> T (in Ref. 4; AAA36419).
{ECO:0000305}.
SEQUENCE 1060 AA; 114743 MW; 0F4F24F3EE607D04 CRC64;
MDSGAGGRRC PEAALLILGP PRMEHLRHSP GPGGQRLLLP SMLLALLLLL APSPGHATRV
VYKVPEEQPP NTLIGSLAAD YGFPDVGHLY KLEVGAPYLR VDGKTGDIFT TETSIDREGL
RECQNQLPGD PCILEFEVSI TDLVQNGSPR LLEGQIEVQD INDNTPNFAS PVITLAIPEN
TNIGSLFPIP LASDRDAGPN GVASYELQAG PEAQELFGLQ VAEDQEEKQP QLIVMGNLDR
ERWDSYDLTI KVQDGGSPPR ASSALLRVTV LDTNDNAPKF ERPSYEAELS ENSPIGHSVI
QVKANDSDQG ANAEIEYTFH QAPEVVRRLL RLDRNTGLIT VQGPVDREDL STLRFSVLAK
DRGTNPKSAR AQVVVTVKDM NDNAPTIEIR GIGLVTHQDG MANISEDVAE ETAVALVQVS
DRDEGENAAV TCVVAGDVPF QLRQASETGS DSKKKYFLQT TTPLDYEKVK DYTIEIVAVD
SGNPPLSSTN SLKVQVVDVN DNAPVFTQSV TEVAFPENNK PGEVIAEITA SDADSGSNAE
LVYSLEPEPA AKGLFTISPE TGEIQVKTSL DREQRESYEL KVVAADRGSP SLQGTATVLV
NVLDCNDNDP KFMLSGYNFS VMENMPALSP VGMVTVIDGD KGENAQVQLS VEQDNGDFVI
QNGTGTILSS LSFDREQQST YTFQLKAVDG GVPPRSAYVG VTINVLDEND NAPYITAPSN
TSHKLLTPQT RLGETVSQVA AEDFDSGVNA ELIYSIAGGN PYGLFQIGSH SGAITLEKEI
ERRHHGLHRL VVKVSDRGKP PRYGTALVHL YVNETLANRT LLETLLGHSL DTPLDIDIAG
DPEYERSKQR GNILFGVVAG VVAVALLIAL AVLVRYCRQR EAKSGYQAGK KETKDLYAPK
PSGKASKGNK SKGKKSKSPK PVKPVEDEDE AGLQKSLKFN LMSDAPGDSP RIHLPLNYPP
GSPDLGRHYR SNSPLPSIQL QPQSPSASKK HQVVQDLPPA NTFVGTGDTT STGSEQYSDY
SYRTNPPKYP SKQVGQPFQL STPQPLPHPY HGAIWTEVWE


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