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Protein

Protocadherin alpha-8

Gene

PCDHA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

GO - Molecular functioni

GO - Biological processi

  • cell adhesion 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

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin alpha-8
Short name:
PCDH-alpha-8
Gene namesi
Name:PCDHA8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8674. PCDHA8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 697668ExtracellularSequence analysisAdd
BLAST
Transmembranei698 – 71821HelicalSequence analysisAdd
BLAST
Topological domaini719 – 950232CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33020.

Polymorphism and mutation databases

BioMutaiPCDHA8.
DMDMi13878427.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Sequence analysisAdd
BLAST
Chaini30 – 950921Protocadherin alpha-8PRO_0000003898Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence analysis
Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence analysis
Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9Y5H6.
PaxDbiQ9Y5H6.
PeptideAtlasiQ9Y5H6.
PRIDEiQ9Y5H6.

PTM databases

iPTMnetiQ9Y5H6.
PhosphoSiteiQ9Y5H6.

Expressioni

Gene expression databases

BgeeiENSG00000204962.
GenevisibleiQ9Y5H6. HS.

Organism-specific databases

HPAiHPA044585.

Interactioni

Protein-protein interaction databases

BioGridi121080. 1 interaction.
IntActiQ9Y5H6. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5H6.
SMRiQ9Y5H6. Positions 27-667.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 133104Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini157 – 24286Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini243 – 350108Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini351 – 455105Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini456 – 565110Cadherin 5PROSITE-ProRule annotationAdd
BLAST
Domaini581 – 67898Cadherin 6PROSITE-ProRule annotationAdd
BLAST
Repeati774 – 7774PXXP 1
Repeati799 – 8024PXXP 2
Repeati832 – 8354PXXP 3
Repeati873 – 8764PXXP 4
Repeati891 – 8944PXXP 5

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni774 – 8941215 X 4 AA repeats of P-X-X-PAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi923 – 9308Poly-Lys

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129695.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H6.
KOiK16493.
OMAiRLSSHDY.
OrthoDBiEOG091G00KR.
PhylomeDBiQ9Y5H6.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 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: Q9Y5H6-1) [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
MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ
60 70 80 90 100
DLGLELAELV PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA
110 120 130 140 150
ECSIHLEVIV DRPLQVFHVD VEVKDVNDNP PVFRVKDQKL FVSESRMPDS
160 170 180 190 200
RFPLEGASDA DVGANSVLTY RLSSHDYFML DVNSKNDENK LVELVLRKSL
210 220 230 240 250
DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP TFEQSEYEVR
260 270 280 290 300
IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
310 320 330 340 350
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI
360 370 380 390 400
ALTSLSLPVR EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST
410 420 430 440 450
FKNYYSLVLD SALDRERVSA YELVVTARDG GSPSLWATAS LSVEVADVND
460 470 480 490 500
NAPAFAQPEY TVFVKENNPP GCHIFTVSAR DADAQENALV SYSLVERRVG
510 520 530 540 550
ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA GVPPLGSNVT
560 570 580 590 600
LQVFVLDEND NAPALLEPRV GGTGGAASKL VPRSVGAGHV VAKVRAVDAD
610 620 630 640 650
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL
660 670 680 690 700
VKDHGEPALT ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL
710 720 730 740 750
IIAICAVSSL LVLTLLLYTA LRCSALPTEG GCRAGKPTLV CSSAVGSWSY
760 770 780 790 800
SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL GSVDVGEEQD LNVDHGLKPR
810 820 830 840 850
QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP TVSSATPEPE
860 870 880 890 900
AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
910 920 930 940 950
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
Length:950
Mass (Da):103,051
Last modified:November 1, 1999 - v1
Checksum:iFABCBDA29118B63E
GO
Isoform 2 (identifier: Q9Y5H6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     799-814: PRQPNPDWRYSASLRA → VSPFKFRTHKFYLWKL
     815-950: Missing.

Show »
Length:814
Mass (Da):88,710
Checksum:iBFEE876BF62E0B01
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781S → N.
Corresponds to variant rs3756331 [ dbSNP | Ensembl ].
VAR_021876
Natural varianti269 – 2691P → R.
Corresponds to variant rs525886 [ dbSNP | Ensembl ].
VAR_048529
Natural varianti403 – 4031N → T.
Corresponds to variant rs3733706 [ dbSNP | Ensembl ].
VAR_021877
Natural varianti579 – 5791K → E.
Corresponds to variant rs6580012 [ dbSNP | Ensembl ].
VAR_059181

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei799 – 81416PRQPN…ASLRA → VSPFKFRTHKFYLWKL in isoform 2. 2 PublicationsVSP_000686Add
BLAST
Alternative sequencei815 – 950136Missing in isoform 2. 2 PublicationsVSP_000687Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152316 mRNA. Translation: AAD43710.1.
AF152486 mRNA. Translation: AAD43747.1.
AC005609 Genomic DNA. Translation: AAC34318.1.
BC136750 mRNA. Translation: AAI36751.1.
CCDSiCCDS54919.1. [Q9Y5H6-1]
RefSeqiNP_061734.1. NM_018911.2. [Q9Y5H6-1]
NP_114062.1. NM_031856.1. [Q9Y5H6-2]
UniGeneiHs.199343.

Genome annotation databases

EnsembliENST00000378123; ENSP00000367363; ENSG00000204962. [Q9Y5H6-2]
ENST00000531613; ENSP00000434655; ENSG00000204962. [Q9Y5H6-1]
GeneIDi56140.
KEGGihsa:56140.
UCSCiuc003lhr.2. human. [Q9Y5H6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152316 mRNA. Translation: AAD43710.1.
AF152486 mRNA. Translation: AAD43747.1.
AC005609 Genomic DNA. Translation: AAC34318.1.
BC136750 mRNA. Translation: AAI36751.1.
CCDSiCCDS54919.1. [Q9Y5H6-1]
RefSeqiNP_061734.1. NM_018911.2. [Q9Y5H6-1]
NP_114062.1. NM_031856.1. [Q9Y5H6-2]
UniGeneiHs.199343.

3D structure databases

ProteinModelPortaliQ9Y5H6.
SMRiQ9Y5H6. Positions 27-667.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121080. 1 interaction.
IntActiQ9Y5H6. 1 interaction.

PTM databases

iPTMnetiQ9Y5H6.
PhosphoSiteiQ9Y5H6.

Polymorphism and mutation databases

BioMutaiPCDHA8.
DMDMi13878427.

Proteomic databases

EPDiQ9Y5H6.
PaxDbiQ9Y5H6.
PeptideAtlasiQ9Y5H6.
PRIDEiQ9Y5H6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378123; ENSP00000367363; ENSG00000204962. [Q9Y5H6-2]
ENST00000531613; ENSP00000434655; ENSG00000204962. [Q9Y5H6-1]
GeneIDi56140.
KEGGihsa:56140.
UCSCiuc003lhr.2. human. [Q9Y5H6-1]

Organism-specific databases

CTDi56140.
GeneCardsiPCDHA8.
HGNCiHGNC:8674. PCDHA8.
HPAiHPA044585.
MIMi604966. gene.
606314. gene.
neXtProtiNX_Q9Y5H6.
PharmGKBiPA33020.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129695.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H6.
KOiK16493.
OMAiRLSSHDY.
OrthoDBiEOG091G00KR.
PhylomeDBiQ9Y5H6.
TreeFamiTF332299.

Miscellaneous databases

GenomeRNAii56140.
PROiQ9Y5H6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204962.
GenevisibleiQ9Y5H6. HS.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPCDA8_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5H6
Secondary accession number(s): B9EGT7, O75281
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 141 of the entry and version 1 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

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.