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Protein

Protocadherin alpha-6

Gene

PCDHA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: GO_Central
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • nervous system development Source: ProtInc

Keywordsi

Biological processCell adhesion
LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin alpha-6
Short name:
PCDH-alpha-6
Gene namesi
Name:PCDHA6
Synonyms:CNRS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000081842.17
HGNCiHGNC:8672 PCDHA6
MIMi604966 gene
606312 gene
neXtProtiNX_Q9UN73

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 697ExtracellularSequence analysisAdd BLAST668
Transmembranei698 – 718HelicalSequence analysisAdd BLAST21
Topological domaini719 – 950CytoplasmicSequence analysisAdd BLAST232

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000081842
PharmGKBiPA33018

Polymorphism and mutation databases

BioMutaiPCDHA6
DMDMi13878423

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000000389430 – 950Protocadherin alpha-6Add BLAST921

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi257N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi265N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi386N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi548N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9UN73
PaxDbiQ9UN73
PeptideAtlasiQ9UN73
PRIDEiQ9UN73
ProteomicsDBi85261
85262 [Q9UN73-2]
85263 [Q9UN73-3]

PTM databases

iPTMnetiQ9UN73
PhosphoSitePlusiQ9UN73

Expressioni

Gene expression databases

BgeeiENSG00000081842 Expressed in 52 organ(s), highest expression level in hypothalamus
CleanExiHS_PCDHA6
GenevisibleiQ9UN73 HS

Organism-specific databases

HPAiHPA059326
HPA078110

Interactioni

Protein-protein interaction databases

BioGridi121082, 3 interactors
IntActiQ9UN73, 2 interactors
STRINGi9606.ENSP00000433378

Structurei

3D structure databases

ProteinModelPortaliQ9UN73
SMRiQ9UN73
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 133Cadherin 1PROSITE-ProRule annotationAdd BLAST100
Domaini157 – 242Cadherin 2PROSITE-ProRule annotationAdd BLAST86
Domaini243 – 350Cadherin 3PROSITE-ProRule annotationAdd BLAST108
Domaini351 – 455Cadherin 4PROSITE-ProRule annotationAdd BLAST105
Domaini456 – 565Cadherin 5PROSITE-ProRule annotationAdd BLAST110
Domaini581 – 678Cadherin 6PROSITE-ProRule annotationAdd BLAST98
Repeati799 – 802PXXP 14
Repeati832 – 835PXXP 24
Repeati873 – 876PXXP 34
Repeati891 – 894PXXP 44

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni799 – 8944 X 4 AA repeats of P-X-X-PAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi923 – 930Poly-Lys8

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00920000148958
HOGENOMiHOG000220892
HOVERGENiHBG054878
InParanoidiQ9UN73
KOiK16493
OMAiWINIFIE
OrthoDBiEOG091G00KR
PhylomeDBiQ9UN73
TreeFamiTF332299

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR031904 Cadherin_CBD
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
PfamiView protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit
PF15974 Cadherin_tail, 1 hit
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 6 hits
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UN73-1) [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
MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ
60 70 80 90 100
DLGLELAELV PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA
110 120 130 140 150
ECSIHLEVIV DRPLQVFHVD VEVRDINDNP PLFPVEEQRV LIYESRLPDS
160 170 180 190 200
VFPLEGASDA DVGSNSILTY KLSSSEYFGL DVKINSDDNK QIGLLLKKSL
210 220 230 240 250
DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP TFEQSEYEVR
260 270 280 290 300
IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG
310 320 330 340 350
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI
360 370 380 390 400
ALTSLSLPVR EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST
410 420 430 440 450
FKNYYSLVLD SALDRESVSA YELVVTARDG GSPSLWATAS LSVEVADMND
460 470 480 490 500
NAPAFAQPEY TVFVKENNPP GCHIFTVSAR DADAQENALV SYSLVERRVG
510 520 530 540 550
ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQVSARDA GVPPLGSNVT
560 570 580 590 600
LQVFVLDEND NAPALLAPRV GGTGGAVSEL VPRSLGAGQV VAKVRAVDAD
610 620 630 640 650
SGYNAWLSYE LQPPASSARF PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL
660 670 680 690 700
VKDHGEPALT ATATVLVSLV ESGQAPKASS RASVGAAGPE AALVDVNVYL
710 720 730 740 750
IIAICAVSSL LVLTLLLYTA LRCSAPPTEG ACTADKPTLV CSSAVGSWSY
760 770 780 790 800
SQQRRQRVCS GEGPPKMDLM AFSPSLSPCP IMMGKAENQD LNEDHDAKPR
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):102,716
Last modified:May 1, 2000 - v1
Checksum:i894B97B9737C52B9
GO
Isoform 2 (identifier: Q9UN73-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     535-798: Missing.

Show »
Length:686
Mass (Da):75,250
Checksum:i683E33D08C967700
GO
Isoform 3 (identifier: Q9UN73-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     799-803: PRQPN → VSEFS
     804-950: Missing.

Show »
Length:803
Mass (Da):86,845
Checksum:iD95B0E37DD1B0F17
GO

Sequence cautioni

The sequence AAF89691 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061061585L → V. Corresponds to variant dbSNP:rs60309716Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000681535 – 798Missing in isoform 2. 1 PublicationAdd BLAST264
Alternative sequenceiVSP_000682799 – 803PRQPN → VSEFS in isoform 3. 1 Publication5
Alternative sequenceiVSP_000683804 – 950Missing in isoform 3. 1 PublicationAdd BLAST147

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152314 mRNA Translation: AAD43708.1
AF152484 mRNA Translation: AAD43745.1
AF169694 mRNA Translation: AAF89691.1 Different initiation.
AC005609 Genomic DNA Translation: AAC34320.1
BC036674 mRNA Translation: AAH36674.1
CCDSiCCDS47281.1 [Q9UN73-1]
CCDS47282.1 [Q9UN73-2]
RefSeqiNP_061732.1, NM_018909.3 [Q9UN73-1]
NP_114036.1, NM_031848.2 [Q9UN73-3]
NP_114037.1, NM_031849.2 [Q9UN73-2]
UniGeneiHs.199343
Hs.570901
Hs.599714
Hs.621225

Genome annotation databases

EnsembliENST00000378126; ENSP00000367366; ENSG00000081842 [Q9UN73-3]
ENST00000527624; ENSP00000434113; ENSG00000081842 [Q9UN73-2]
ENST00000529310; ENSP00000433378; ENSG00000081842 [Q9UN73-1]
GeneIDi56142
KEGGihsa:56142
UCSCiuc003lhn.4 human [Q9UN73-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152314 mRNA Translation: AAD43708.1
AF152484 mRNA Translation: AAD43745.1
AF169694 mRNA Translation: AAF89691.1 Different initiation.
AC005609 Genomic DNA Translation: AAC34320.1
BC036674 mRNA Translation: AAH36674.1
CCDSiCCDS47281.1 [Q9UN73-1]
CCDS47282.1 [Q9UN73-2]
RefSeqiNP_061732.1, NM_018909.3 [Q9UN73-1]
NP_114036.1, NM_031848.2 [Q9UN73-3]
NP_114037.1, NM_031849.2 [Q9UN73-2]
UniGeneiHs.199343
Hs.570901
Hs.599714
Hs.621225

3D structure databases

ProteinModelPortaliQ9UN73
SMRiQ9UN73
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121082, 3 interactors
IntActiQ9UN73, 2 interactors
STRINGi9606.ENSP00000433378

PTM databases

iPTMnetiQ9UN73
PhosphoSitePlusiQ9UN73

Polymorphism and mutation databases

BioMutaiPCDHA6
DMDMi13878423

Proteomic databases

EPDiQ9UN73
PaxDbiQ9UN73
PeptideAtlasiQ9UN73
PRIDEiQ9UN73
ProteomicsDBi85261
85262 [Q9UN73-2]
85263 [Q9UN73-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378126; ENSP00000367366; ENSG00000081842 [Q9UN73-3]
ENST00000527624; ENSP00000434113; ENSG00000081842 [Q9UN73-2]
ENST00000529310; ENSP00000433378; ENSG00000081842 [Q9UN73-1]
GeneIDi56142
KEGGihsa:56142
UCSCiuc003lhn.4 human [Q9UN73-1]

Organism-specific databases

CTDi56142
EuPathDBiHostDB:ENSG00000081842.17
GeneCardsiPCDHA6
HGNCiHGNC:8672 PCDHA6
HPAiHPA059326
HPA078110
MIMi604966 gene
606312 gene
neXtProtiNX_Q9UN73
OpenTargetsiENSG00000081842
PharmGKBiPA33018
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00920000148958
HOGENOMiHOG000220892
HOVERGENiHBG054878
InParanoidiQ9UN73
KOiK16493
OMAiWINIFIE
OrthoDBiEOG091G00KR
PhylomeDBiQ9UN73
TreeFamiTF332299

Miscellaneous databases

GeneWikiiPCDHA6
GenomeRNAii56142
PROiPR:Q9UN73
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081842 Expressed in 52 organ(s), highest expression level in hypothalamus
CleanExiHS_PCDHA6
GenevisibleiQ9UN73 HS

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR031904 Cadherin_CBD
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
PfamiView protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit
PF15974 Cadherin_tail, 1 hit
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 6 hits
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPCDA6_HUMAN
AccessioniPrimary (citable) accession number: Q9UN73
Secondary accession number(s): O75283, Q9NRT8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 160 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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