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Protein

Protocadherin gamma-A6

Gene

PCDHGA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin gamma-A6
Short name:
PCDH-gamma-A6
Gene namesi
Name:PCDHGA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8704. PCDHGA6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 692ExtracellularSequence analysisAdd BLAST663
Transmembranei693 – 713HelicalSequence analysisAdd BLAST21
Topological domaini714 – 932CytoplasmicSequence analysisAdd BLAST219

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000253731.
PharmGKBiPA33052.

Polymorphism and mutation databases

BioMutaiPCDHGA6.
DMDMi37999837.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000000395830 – 932Protocadherin gamma-A6Add BLAST903

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi81N-linked (GlcNAc...)Sequence analysis1
Glycosylationi419N-linked (GlcNAc...)Sequence analysis1
Glycosylationi545N-linked (GlcNAc...)Sequence analysis1
Glycosylationi685N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y5G7.
PeptideAtlasiQ9Y5G7.
PRIDEiQ9Y5G7.

PTM databases

iPTMnetiQ9Y5G7.
PhosphoSitePlusiQ9Y5G7.

Expressioni

Gene expression databases

BgeeiENSG00000253731.
GenevisibleiQ9Y5G7. HS.

Organism-specific databases

HPAiHPA008755.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5G7.
SMRiQ9Y5G7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 133Cadherin 1PROSITE-ProRule annotationAdd BLAST104
Domaini134 – 242Cadherin 2PROSITE-ProRule annotationAdd BLAST109
Domaini243 – 347Cadherin 3PROSITE-ProRule annotationAdd BLAST105
Domaini348 – 452Cadherin 4PROSITE-ProRule annotationAdd BLAST105
Domaini453 – 562Cadherin 5PROSITE-ProRule annotationAdd BLAST110
Domaini570 – 682Cadherin 6PROSITE-ProRule annotationAdd BLAST113

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOVERGENiHBG054878.
InParanoidiQ9Y5G7.
KOiK16495.
OMAiKLNLYPV.
OrthoDBiEOG091G00SP.
PhylomeDBiQ9Y5G7.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_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: Q9Y5G7-1) [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
MAPPQRHPQR SEQVLLLTLL GTLWGAAAAQ IRYSIPEELE KGSFVGNIVK
60 70 80 90 100
DLGLEPQELA EHGVRIVSRG RMQLFSLNPR NGSLVTAGRI DREELCAQSP
110 120 130 140 150
RCLVSFNILV EDKLNLYPVE VEIVDINDNT PRFLKEELEV KILENAAPSS
160 170 180 190 200
RFPLMEVYDP DVGMNSLQGF KLSGNSHFSV DVQSEAHGPK YPELVLEGTL
210 220 230 240 250
DREGEAVYRL VLTAMDGGDP VRSSVAQILV TVLDVNDNTP MFTQPVYRVS
260 270 280 290 300
VPENLPVGTP VLAVTATDQD EGVHGEVTYS FVKITEKISQ IFCLNVLTGE
310 320 330 340 350
ISTSANLDYE DSSFYELGVE ARDGPGLRDR AKVLITILDV NDNVPEVVVT
360 370 380 390 400
SGSRTIAESA PPGTVIALFQ VFDRDSGLNG LVTCSIPRSL PFELEKSVGN
410 420 430 440 450
YYRLVTNAAL DREEVFLYNI TVTATDKGTP PLSTETIISL NVADTNDNPP
460 470 480 490 500
TFPHSSYSVY VLENNPRGAS IFSVNALDPD VDQNAQVSYS LAEDTLQGAP
510 520 530 540 550
LSSYVSINSD TGILYALRSF DYEQLRDLQL WVTASDSGDP PLSSNVSLSL
560 570 580 590 600
FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
610 620 630 640 650
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG
660 670 680 690 700
QPPLSATVTL TVAVADRIPD ILADLGSLEP SAKPNDSDLT LYLVVAVAAV
710 720 730 740 750
SCVFLAFVIV LLALRLQRWH KSRLLQASGG GLASMPGSHF VGVEGVRAFL
760 770 780 790 800
QTYSHEVSLT ADSRKSHLIF PQPNYADTLI NQESYEKSEP LLITQDLLET
810 820 830 840 850
KGEPRQLQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN NQFDTEMLQA
860 870 880 890 900
MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
910 920 930
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
Length:932
Mass (Da):100,871
Last modified:November 1, 1999 - v1
Checksum:i27035AFD1D9921C9
GO
Isoform 2 (identifier: Q9Y5G7-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     809-818: QAPPNTDWRF → VSFFPPKREE
     819-932: Missing.

Show »
Length:818
Mass (Da):89,163
Checksum:iA84AB142AD47BC5E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048560248R → S.Corresponds to variant rs11575953dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008669809 – 818QAPPNTDWRF → VSFFPPKREE in isoform 2. 2 Publications10
Alternative sequenceiVSP_008670819 – 932Missing in isoform 2. 2 PublicationsAdd BLAST114

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152326 mRNA. Translation: AAD43720.1.
AF152513 mRNA. Translation: AAD43773.1.
CH471062 Genomic DNA. Translation: EAW61931.1.
CH471062 Genomic DNA. Translation: EAW61929.1.
BC136702 mRNA. Translation: AAI36703.1.
BC136703 mRNA. Translation: AAI36704.1.
BC146651 mRNA. Translation: AAI46652.1.
CCDSiCCDS54926.1. [Q9Y5G7-1]
CCDS75335.1. [Q9Y5G7-2]
RefSeqiNP_061742.1. NM_018919.2. [Q9Y5G7-1]
NP_114475.1. NM_032086.1. [Q9Y5G7-2]
UniGeneiHs.368160.

Genome annotation databases

EnsembliENST00000517434; ENSP00000429601; ENSG00000253731. [Q9Y5G7-1]
ENST00000610583; ENSP00000479478; ENSG00000253731. [Q9Y5G7-2]
GeneIDi56109.
KEGGihsa:56109.
UCSCiuc003ljy.3. human. [Q9Y5G7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152326 mRNA. Translation: AAD43720.1.
AF152513 mRNA. Translation: AAD43773.1.
CH471062 Genomic DNA. Translation: EAW61931.1.
CH471062 Genomic DNA. Translation: EAW61929.1.
BC136702 mRNA. Translation: AAI36703.1.
BC136703 mRNA. Translation: AAI36704.1.
BC146651 mRNA. Translation: AAI46652.1.
CCDSiCCDS54926.1. [Q9Y5G7-1]
CCDS75335.1. [Q9Y5G7-2]
RefSeqiNP_061742.1. NM_018919.2. [Q9Y5G7-1]
NP_114475.1. NM_032086.1. [Q9Y5G7-2]
UniGeneiHs.368160.

3D structure databases

ProteinModelPortaliQ9Y5G7.
SMRiQ9Y5G7.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ9Y5G7.
PhosphoSitePlusiQ9Y5G7.

Polymorphism and mutation databases

BioMutaiPCDHGA6.
DMDMi37999837.

Proteomic databases

PaxDbiQ9Y5G7.
PeptideAtlasiQ9Y5G7.
PRIDEiQ9Y5G7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000517434; ENSP00000429601; ENSG00000253731. [Q9Y5G7-1]
ENST00000610583; ENSP00000479478; ENSG00000253731. [Q9Y5G7-2]
GeneIDi56109.
KEGGihsa:56109.
UCSCiuc003ljy.3. human. [Q9Y5G7-1]

Organism-specific databases

CTDi56109.
GeneCardsiPCDHGA6.
HGNCiHGNC:8704. PCDHGA6.
HPAiHPA008755.
MIMi604968. gene.
606293. gene.
neXtProtiNX_Q9Y5G7.
OpenTargetsiENSG00000253731.
PharmGKBiPA33052.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOVERGENiHBG054878.
InParanoidiQ9Y5G7.
KOiK16495.
OMAiKLNLYPV.
OrthoDBiEOG091G00SP.
PhylomeDBiQ9Y5G7.
TreeFamiTF332299.

Miscellaneous databases

GenomeRNAii56109.
PROiQ9Y5G7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000253731.
GenevisibleiQ9Y5G7. HS.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_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 nameiPCDG6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5G7
Secondary accession number(s): A6H8K7, B2RN55, Q9Y5D1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 124 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.