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Q08174

- PCDH1_HUMAN

UniProt

Q08174 - PCDH1_HUMAN

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Protein

Protocadherin-1

Gene
PCDH1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. homophilic cell adhesion Source: InterPro
  3. nervous system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:8655. PCDH1.

Subcellular locationi

Cell junction. Cell membrane; Single-pass type I membrane protein Inferred
Note: Found at cell-cell boundaries and probably at cell-matrix boundaries.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini58 – 852795Extracellular Reviewed predictionAdd
BLAST
Transmembranei853 – 87321Helical; Reviewed predictionAdd
BLAST
Topological domaini874 – 1060187Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: ProtInc
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA32994.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 5757 Reviewed predictionAdd
BLAST
Chaini58 – 10601003Protocadherin-1PRO_0000354078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi305 – 3051N-linked (GlcNAc...)1 Publication
Glycosylationi403 – 4031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi618 – 6181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi662 – 6621N-linked (GlcNAc...) Reviewed prediction
Glycosylationi813 – 8131N-linked (GlcNAc...)1 Publication
Glycosylationi818 – 8181N-linked (GlcNAc...)1 Publication
Modified residuei918 – 9181Phosphoserine1 Publication
Modified residuei949 – 9491Phosphoserine1 Publication
Modified residuei962 – 9621Phosphoserine2 Publications
Modified residuei984 – 9841Phosphoserine1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ08174.
PaxDbiQ08174.
PRIDEiQ08174.

PTM databases

PhosphoSiteiQ08174.

Expressioni

Tissue specificityi

Highly expressed in the brain and neuro-glial cells.

Developmental stagei

Highest expression in adults.

Gene expression databases

ArrayExpressiQ08174.
BgeeiQ08174.
CleanExiHS_PCDH1.
GenevestigatoriQ08174.

Organism-specific databases

HPAiHPA047720.
HPA050538.

Interactioni

Protein-protein interaction databases

BioGridi111130. 4 interactions.
IntActiQ08174. 3 interactions.
MINTiMINT-1185829.

Structurei

3D structure databases

ProteinModelPortaliQ08174.
SMRiQ08174. Positions 54-812.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 168111Cadherin 1Add
BLAST
Domaini169 – 280112Cadherin 2Add
BLAST
Domaini281 – 387107Cadherin 3Add
BLAST
Domaini396 – 506111Cadherin 4Add
BLAST
Domaini507 – 612106Cadherin 5Add
BLAST
Domaini613 – 715103Cadherin 6Add
BLAST
Domaini718 – 844127Cadherin 7Add
BLAST

Sequence similaritiesi

Contains 7 cadherin domains.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG118788.
HOGENOMiHOG000234535.
HOVERGENiHBG053523.
KOiK16498.
OMAiFPDVGHL.
OrthoDBiEOG7WMCHN.
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. Align

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

MDSGAGGRRC PEAALLILGP PRMEHLRHSP GPGGQRLLLP SMLLALLLLL     50
APSPGHATRV VYKVPEEQPP NTLIGSLAAD YGFPDVGHLY KLEVGAPYLR 100
VDGKTGDIFT TETSIDREGL RECQNQLPGD PCILEFEVSI TDLVQNGSPR 150
LLEGQIEVQD INDNTPNFAS PVITLAIPEN TNIGSLFPIP LASDRDAGPN 200
GVASYELQAG PEAQELFGLQ VAEDQEEKQP QLIVMGNLDR ERWDSYDLTI 250
KVQDGGSPPR ASSALLRVTV LDTNDNAPKF ERPSYEAELS ENSPIGHSVI 300
QVKANDSDQG ANAEIEYTFH QAPEVVRRLL RLDRNTGLIT VQGPVDREDL 350
STLRFSVLAK DRGTNPKSAR AQVVVTVKDM NDNAPTIEIR GIGLVTHQDG 400
MANISEDVAE ETAVALVQVS DRDEGENAAV TCVVAGDVPF QLRQASETGS 450
DSKKKYFLQT TTPLDYEKVK DYTIEIVAVD SGNPPLSSTN SLKVQVVDVN 500
DNAPVFTQSV TEVAFPENNK PGEVIAEITA SDADSGSNAE LVYSLEPEPA 550
AKGLFTISPE TGEIQVKTSL DREQRESYEL KVVAADRGSP SLQGTATVLV 600
NVLDCNDNDP KFMLSGYNFS VMENMPALSP VGMVTVIDGD KGENAQVQLS 650
VEQDNGDFVI QNGTGTILSS LSFDREQQST YTFQLKAVDG GVPPRSAYVG 700
VTINVLDEND NAPYITAPSN TSHKLLTPQT RLGETVSQVA AEDFDSGVNA 750
ELIYSIAGGN PYGLFQIGSH SGAITLEKEI ERRHHGLHRL VVKVSDRGKP 800
PRYGTALVHL YVNETLANRT LLETLLGHSL DTPLDIDIAG DPEYERSKQR 850
GNILFGVVAG VVAVALLIAL AVLVRYCRQR EAKSGYQAGK KETKDLYAPK 900
PSGKASKGNK SKGKKSKSPK PVKPVEDEDE AGLQKSLKFN LMSDAPGDSP 950
RIHLPLNYPP GSPDLGRHYR SNSPLPSIQL QPQSPSASKK HQVVQDLPPA 1000
NTFVGTGDTT STGSEQYSDY SYRTNPPKYP SKQVGQPFQL STPQPLPHPY 1050
HGAIWTEVWE 1060
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 AAA36419.1 differs from that shown. Reason: Probable cloning artifact.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → F.
Corresponds to variant rs12517385 [ dbSNP | Ensembl ].
VAR_047530
Natural varianti25 – 251H → P.1 Publication
Corresponds to variant rs12515587 [ dbSNP | Ensembl ].
VAR_047531
Natural varianti514 – 5141A → T.
Corresponds to variant rs3822357 [ dbSNP | Ensembl ].
VAR_047532

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1034 – 106027VGQPF…TEVWE → LPHRRVTFSATSQAQELQDP SQHSYYDSGLEESETPSSKS SSGPRLGPLALPEDHYERTT PDGSIGEMEHPENDLRPLPD VAMTGTCTRECSEFGHSDTC WMPGQSSPSRRTKSSALKLS TFVPYQDRGGQEPAGAGSPS PPEDRNTKTAPVRLLPSYSA FSHSSHDSCKDSATLEEIPL TQTSDFPPAATPASAQTAKR EIYL in isoform 2. VSP_000703Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti147 – 1471G → A in AAA36419. 1 Publication
Sequence conflicti262 – 2621S → T in AAA36419. 1 Publication
Isoform 2 (identifier: Q08174-2)
Sequence conflicti1156 – 11561V → M in AAA36418. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q08174-2]
uc003llq.3. human. [Q08174-1]

Polymorphism databases

DMDMi215273864.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS4267.1. [Q08174-2 ]
CCDS43375.1. [Q08174-1 ]
RefSeqi NP_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 ]
UniGenei Hs.79769.

3D structure databases

ProteinModelPortali Q08174.
SMRi Q08174. Positions 54-812.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111130. 4 interactions.
IntActi Q08174. 3 interactions.
MINTi MINT-1185829.

PTM databases

PhosphoSitei Q08174.

Polymorphism databases

DMDMi 215273864.

Proteomic databases

MaxQBi Q08174.
PaxDbi Q08174.
PRIDEi Q08174.

Protocols and materials databases

DNASUi 5097.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000287008 ; ENSP00000287008 ; ENSG00000156453 . [Q08174-2 ]
ENST00000394536 ; ENSP00000378043 ; ENSG00000156453 . [Q08174-1 ]
GeneIDi 5097.
KEGGi hsa:5097.
UCSCi uc003llp.3. human. [Q08174-2 ]
uc003llq.3. human. [Q08174-1 ]

Organism-specific databases

CTDi 5097.
GeneCardsi GC05M141232.
HGNCi HGNC:8655. PCDH1.
HPAi HPA047720.
HPA050538.
MIMi 603626. gene.
neXtProti NX_Q08174.
PharmGKBi PA32994.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG118788.
HOGENOMi HOG000234535.
HOVERGENi HBG053523.
KOi K16498.
OMAi FPDVGHL.
OrthoDBi EOG7WMCHN.
PhylomeDBi Q08174.
TreeFami TF320624.

Miscellaneous databases

ChiTaRSi PCDH1. human.
GeneWikii PCDH1.
GenomeRNAii 5097.
NextBioi 19664.
PROi Q08174.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q08174.
Bgeei Q08174.
CleanExi HS_PCDH1.
Genevestigatori Q08174.

Family and domain databases

Gene3Di 2.60.40.60. 7 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR013585. Protocadherin.
[Graphical view ]
Pfami PF00028. Cadherin. 6 hits.
PF08266. Cadherin_2. 1 hit.
PF08374. Protocadherin. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 6 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 6 hits.
PROSITEi PS00232. CADHERIN_1. 6 hits.
PS50268. CADHERIN_2. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 5."
    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.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  4. "Protocadherins: a large family of cadherin-related molecules in central nervous system."
    Sano K., Tanihara H., Heimark R.L., Obata S., Davidson M., St John T., Taketani S., Suzuki S.
    EMBO J. 12:2249-2256(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 10-1060 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 980-1060 (ISOFORM 2), VARIANT PRO-25.
    Tissue: Brain.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-949 AND SER-962, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-305; ASN-813 AND ASN-818.
    Tissue: Liver.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-918; SER-962 AND SER-984, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: July 9, 2014
This is version 123 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.

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

External Data

Dasty 3

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