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Protein

Protocadherin-1

Gene

PCDH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in cell-cell interaction processes and in cell adhesion.

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • nervous system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156453-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin-1
Alternative name(s):
Cadherin-like protein 1
Protocadherin-42
Short name:
PC42
Gene namesi
Name:PCDH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8655. PCDH1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini58 – 852ExtracellularSequence analysisAdd BLAST795
Transmembranei853 – 873HelicalSequence analysisAdd BLAST21
Topological domaini874 – 1060CytoplasmicSequence analysisAdd BLAST187

GO - Cellular componenti

  • cell-cell junction Source: ProtInc
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi5097.
OpenTargetsiENSG00000156453.
PharmGKBiPA32994.

Polymorphism and mutation databases

BioMutaiPCDH1.
DMDMi215273864.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 57Sequence analysisAdd BLAST57
ChainiPRO_000035407858 – 1060Protocadherin-1Add BLAST1003

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi305N-linked (GlcNAc...)1 Publication1
Glycosylationi403N-linked (GlcNAc...)Sequence analysis1
Glycosylationi618N-linked (GlcNAc...)Sequence analysis1
Glycosylationi662N-linked (GlcNAc...)Sequence analysis1
Glycosylationi813N-linked (GlcNAc...)1 Publication1
Glycosylationi818N-linked (GlcNAc...)1 Publication1
Modified residuei918PhosphoserineCombined sources1
Modified residuei949PhosphoserineCombined sources1
Modified residuei962PhosphoserineCombined sources1
Modified residuei984PhosphoserineCombined sources1
Isoform 2 (identifier: Q08174-2)
Modified residuei1173PhosphoserineCombined sourcesCurated1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ08174.
MaxQBiQ08174.
PaxDbiQ08174.
PeptideAtlasiQ08174.
PRIDEiQ08174.

PTM databases

iPTMnetiQ08174.
PhosphoSitePlusiQ08174.

Expressioni

Tissue specificityi

Highly expressed in the brain and neuro-glial cells.

Developmental stagei

Highest expression in adults.

Gene expression databases

BgeeiENSG00000156453.
CleanExiHS_PCDH1.
ExpressionAtlasiQ08174. baseline and differential.
GenevisibleiQ08174. HS.

Organism-specific databases

HPAiHPA047720.
HPA050538.

Interactioni

Protein-protein interaction databases

BioGridi111130. 10 interactors.
IntActiQ08174. 10 interactors.
MINTiMINT-1185829.
STRINGi9606.ENSP00000287008.

Structurei

3D structure databases

ProteinModelPortaliQ08174.
SMRiQ08174.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini58 – 168Cadherin 1PROSITE-ProRule annotationAdd BLAST111
Domaini169 – 280Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini281 – 387Cadherin 3PROSITE-ProRule annotationAdd BLAST107
Domaini396 – 506Cadherin 4PROSITE-ProRule annotationAdd BLAST111
Domaini507 – 612Cadherin 5PROSITE-ProRule annotationAdd BLAST106
Domaini613 – 715Cadherin 6PROSITE-ProRule annotationAdd BLAST103
Domaini718 – 844Cadherin 7PROSITE-ProRule annotationAdd BLAST127

Sequence similaritiesi

Contains 7 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II7Q. Eukaryota.
ENOG410XPHP. LUCA.
GeneTreeiENSGT00850000132246.
HOGENOMiHOG000234535.
HOVERGENiHBG053523.
InParanoidiQ08174.
KOiK16498.
OMAiIEYTFHQ.
OrthoDBiEOG091G011P.
PhylomeDBiQ08174.
TreeFamiTF320624.

Family and domain databases

Gene3Di2.60.40.60. 7 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR013585. Protocadherin.
[Graphical view]
PfamiPF00028. Cadherin. 6 hits.
PF08266. Cadherin_2. 1 hit.
PF08374. Protocadherin. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 6 hits.
PS50268. CADHERIN_2. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q08174-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDSGAGGRRC PEAALLILGP PRMEHLRHSP GPGGQRLLLP SMLLALLLLL
60 70 80 90 100
APSPGHATRV VYKVPEEQPP NTLIGSLAAD YGFPDVGHLY KLEVGAPYLR
110 120 130 140 150
VDGKTGDIFT TETSIDREGL RECQNQLPGD PCILEFEVSI TDLVQNGSPR
160 170 180 190 200
LLEGQIEVQD INDNTPNFAS PVITLAIPEN TNIGSLFPIP LASDRDAGPN
210 220 230 240 250
GVASYELQAG PEAQELFGLQ VAEDQEEKQP QLIVMGNLDR ERWDSYDLTI
260 270 280 290 300
KVQDGGSPPR ASSALLRVTV LDTNDNAPKF ERPSYEAELS ENSPIGHSVI
310 320 330 340 350
QVKANDSDQG ANAEIEYTFH QAPEVVRRLL RLDRNTGLIT VQGPVDREDL
360 370 380 390 400
STLRFSVLAK DRGTNPKSAR AQVVVTVKDM NDNAPTIEIR GIGLVTHQDG
410 420 430 440 450
MANISEDVAE ETAVALVQVS DRDEGENAAV TCVVAGDVPF QLRQASETGS
460 470 480 490 500
DSKKKYFLQT TTPLDYEKVK DYTIEIVAVD SGNPPLSSTN SLKVQVVDVN
510 520 530 540 550
DNAPVFTQSV TEVAFPENNK PGEVIAEITA SDADSGSNAE LVYSLEPEPA
560 570 580 590 600
AKGLFTISPE TGEIQVKTSL DREQRESYEL KVVAADRGSP SLQGTATVLV
610 620 630 640 650
NVLDCNDNDP KFMLSGYNFS VMENMPALSP VGMVTVIDGD KGENAQVQLS
660 670 680 690 700
VEQDNGDFVI QNGTGTILSS LSFDREQQST YTFQLKAVDG GVPPRSAYVG
710 720 730 740 750
VTINVLDEND NAPYITAPSN TSHKLLTPQT RLGETVSQVA AEDFDSGVNA
760 770 780 790 800
ELIYSIAGGN PYGLFQIGSH SGAITLEKEI ERRHHGLHRL VVKVSDRGKP
810 820 830 840 850
PRYGTALVHL YVNETLANRT LLETLLGHSL DTPLDIDIAG DPEYERSKQR
860 870 880 890 900
GNILFGVVAG VVAVALLIAL AVLVRYCRQR EAKSGYQAGK KETKDLYAPK
910 920 930 940 950
PSGKASKGNK SKGKKSKSPK PVKPVEDEDE AGLQKSLKFN LMSDAPGDSP
960 970 980 990 1000
RIHLPLNYPP GSPDLGRHYR SNSPLPSIQL QPQSPSASKK HQVVQDLPPA
1010 1020 1030 1040 1050
NTFVGTGDTT STGSEQYSDY SYRTNPPKYP SKQVGQPFQL STPQPLPHPY
1060
HGAIWTEVWE
Length:1,060
Mass (Da):114,743
Last modified:November 25, 2008 - v2
Checksum:i0F4F24F3EE607D04
GO
Isoform 2 (identifier: Q08174-2) [UniParc]FASTAAdd to basket
Also known as: PC42-8

The sequence of this isoform differs from the canonical sequence as follows:
     1034-1060: VGQPFQLSTPQPLPHPYHGAIWTEVWE → LPHRRVTFSA...AQTAKREIYL

Show »
Length:1,237
Mass (Da):133,722
Checksum:iEF5A5BFCEE84A005
GO

Sequence cautioni

The sequence AAA36419 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti147G → A in AAA36419 (PubMed:8508762).Curated1
Sequence conflicti262S → T in AAA36419 (PubMed:8508762).Curated1
Isoform 2 (identifier: Q08174-2)
Sequence conflicti1156V → M in AAA36418 (PubMed:8508762).Combined sourcesCurated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04753015L → F.Corresponds to variant rs12517385dbSNPEnsembl.1
Natural variantiVAR_04753125H → P.1 PublicationCorresponds to variant rs12515587dbSNPEnsembl.1
Natural variantiVAR_047532514A → T.Corresponds to variant rs3822357dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0007031034 – 1060VGQPF…TEVWE → LPHRRVTFSATSQAQELQDP SQHSYYDSGLEESETPSSKS SSGPRLGPLALPEDHYERTT PDGSIGEMEHPENDLRPLPD VAMTGTCTRECSEFGHSDTC WMPGQSSPSRRTKSSALKLS TFVPYQDRGGQEPAGAGSPS PPEDRNTKTAPVRLLPSYSA FSHSSHDSCKDSATLEEIPL TQTSDFPPAATPASAQTAKR EIYL in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC094107 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61902.1.
BC035812 mRNA. Translation: AAH35812.1.
L11369 mRNA. Translation: AAA36418.1.
L11370 mRNA. Translation: AAA36419.1. Sequence problems.
CCDSiCCDS4267.1. [Q08174-2]
CCDS43375.1. [Q08174-1]
RefSeqiNP_001265542.1. NM_001278613.1.
NP_001265544.1. NM_001278615.1.
NP_002578.2. NM_002587.4. [Q08174-1]
NP_115796.2. NM_032420.3. [Q08174-2]
UniGeneiHs.79769.

Genome annotation databases

EnsembliENST00000287008; ENSP00000287008; ENSG00000156453. [Q08174-2]
ENST00000394536; ENSP00000378043; ENSG00000156453. [Q08174-1]
GeneIDi5097.
KEGGihsa:5097.
UCSCiuc003llp.4. human. [Q08174-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC094107 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61902.1.
BC035812 mRNA. Translation: AAH35812.1.
L11369 mRNA. Translation: AAA36418.1.
L11370 mRNA. Translation: AAA36419.1. Sequence problems.
CCDSiCCDS4267.1. [Q08174-2]
CCDS43375.1. [Q08174-1]
RefSeqiNP_001265542.1. NM_001278613.1.
NP_001265544.1. NM_001278615.1.
NP_002578.2. NM_002587.4. [Q08174-1]
NP_115796.2. NM_032420.3. [Q08174-2]
UniGeneiHs.79769.

3D structure databases

ProteinModelPortaliQ08174.
SMRiQ08174.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111130. 10 interactors.
IntActiQ08174. 10 interactors.
MINTiMINT-1185829.
STRINGi9606.ENSP00000287008.

PTM databases

iPTMnetiQ08174.
PhosphoSitePlusiQ08174.

Polymorphism and mutation databases

BioMutaiPCDH1.
DMDMi215273864.

Proteomic databases

EPDiQ08174.
MaxQBiQ08174.
PaxDbiQ08174.
PeptideAtlasiQ08174.
PRIDEiQ08174.

Protocols and materials databases

DNASUi5097.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287008; ENSP00000287008; ENSG00000156453. [Q08174-2]
ENST00000394536; ENSP00000378043; ENSG00000156453. [Q08174-1]
GeneIDi5097.
KEGGihsa:5097.
UCSCiuc003llp.4. human. [Q08174-1]

Organism-specific databases

CTDi5097.
DisGeNETi5097.
GeneCardsiPCDH1.
HGNCiHGNC:8655. PCDH1.
HPAiHPA047720.
HPA050538.
MIMi603626. gene.
neXtProtiNX_Q08174.
OpenTargetsiENSG00000156453.
PharmGKBiPA32994.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II7Q. Eukaryota.
ENOG410XPHP. LUCA.
GeneTreeiENSGT00850000132246.
HOGENOMiHOG000234535.
HOVERGENiHBG053523.
InParanoidiQ08174.
KOiK16498.
OMAiIEYTFHQ.
OrthoDBiEOG091G011P.
PhylomeDBiQ08174.
TreeFamiTF320624.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156453-MONOMER.

Miscellaneous databases

ChiTaRSiPCDH1. human.
GeneWikiiPCDH1.
GenomeRNAii5097.
PROiQ08174.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156453.
CleanExiHS_PCDH1.
ExpressionAtlasiQ08174. baseline and differential.
GenevisibleiQ08174. HS.

Family and domain databases

Gene3Di2.60.40.60. 7 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR013585. Protocadherin.
[Graphical view]
PfamiPF00028. Cadherin. 6 hits.
PF08266. Cadherin_2. 1 hit.
PF08374. Protocadherin. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 6 hits.
PS50268. CADHERIN_2. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPCDH1_HUMAN
AccessioniPrimary (citable) accession number: Q08174
Secondary accession number(s): Q8IUP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-23 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.