Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protocadherin gamma-A1

Gene

PCDHGA1

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

Enzyme and pathway databases

BioCyciZFISH:G66-33591-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin gamma-A1
Short name:
PCDH-gamma-A1
Gene namesi
Name:PCDHGA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8696. PCDHGA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini29 – 692ExtracellularSequence analysisAdd BLAST664
Transmembranei693 – 713HelicalSequence analysisAdd BLAST21
Topological domaini714 – 931CytoplasmicSequence analysisAdd BLAST218

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi56114.
OpenTargetsiENSG00000204956.
PharmGKBiPA33044.

Polymorphism and mutation databases

BioMutaiPCDHGA1.
DMDMi37999844.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000000394829 – 931Protocadherin gamma-A1Add BLAST903

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi265N-linked (GlcNAc...)Sequence analysis1
Glycosylationi419N-linked (GlcNAc...)Sequence analysis1
Glycosylationi545N-linked (GlcNAc...)Sequence analysis1
Glycosylationi685N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y5H4.
PeptideAtlasiQ9Y5H4.
PRIDEiQ9Y5H4.

PTM databases

iPTMnetiQ9Y5H4.
PhosphoSitePlusiQ9Y5H4.

Expressioni

Gene expression databases

BgeeiENSG00000204956.
GenevisibleiQ9Y5H4. HS.

Organism-specific databases

HPAiHPA008755.
HPA036547.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000431083.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5H4.
SMRiQ9Y5H4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 133Cadherin 1PROSITE-ProRule annotationAdd BLAST105
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.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H4.
KOiK16495.
OMAiHTTCSIP.
OrthoDBiEOG091G024L.
PhylomeDBiQ9Y5H4.
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.
IPR030736. PCDHGA1.
[Graphical view]
PANTHERiPTHR24028:SF108. PTHR24028:SF108. 1 hit.
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: Q9Y5H4-1) [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
MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK
60 70 80 90 100
DLGLQPQELA DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM
110 120 130 140 150
PCLVSFNILV EDKMKLFPVE VEIIDINDNT PQFQLEELEF KMNEITTPGT
160 170 180 190 200
RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL DVQQGADGPQ HPEMVLQSPL
210 220 230 240 250
DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP AFTQAQYHIN
260 270 280 290 300
VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE
310 320 330 340 350
ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT
360 370 380 390 400
SVTTAVPENF PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN
410 420 430 440 450
YYRLVTERTL DRELISGYNI TITAIDQGTP ALSTETHISL LVTDINDNSP
460 470 480 490 500
VFHQDSYSAY IPENNPRGAS IFSVRAHDLD SNENAQITYS LIEDTIQGAP
510 520 530 540 550
LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP PLSSNVSLSL
560 570 580 590 600
FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ
610 620 630 640 650
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG
660 670 680 690 700
QPPLSATVTL TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV
710 720 730 740 750
SCVFLAFVIV LLAHRLRRWH KSRLLQASGG GLASMPGSHF VGVDGVRAFL
760 770 780 790 800
QTYSHEVSLT ADSRKSHLIF PQPNYADTLI SQESCEKKGF LSAPQSLLED
810 820 830 840 850
KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN QFDTEMLQAM
860 870 880 890 900
ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
910 920 930
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K
Length:931
Mass (Da):101,226
Last modified:November 1, 1999 - v1
Checksum:i7B2E8BB616116197
GO
Isoform 2 (identifier: Q9Y5H4-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     808-823: QAPPNTDWRFSQAQRP → VNFCDECISYLEKNNS
     824-931: Missing.

Show »
Length:823
Mass (Da):90,160
Checksum:i94F394B6353AF82C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021882152V → I.2 PublicationsCorresponds to variant rs2472647dbSNPEnsembl.1
Natural variantiVAR_048555282H → Q.Corresponds to variant rs17097185dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008659808 – 823QAPPN…QAQRP → VNFCDECISYLEKNNS in isoform 2. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_008660824 – 931Missing in isoform 2. 2 PublicationsAdd BLAST108

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152318 mRNA. Translation: AAD43712.1.
CH471062 Genomic DNA. Translation: EAW61926.1.
AF152507 mRNA. Translation: AAD43768.1.
BC112082 mRNA. Translation: AAI12083.1.
BC112084 mRNA. Translation: AAI12085.1.
CCDSiCCDS54922.1. [Q9Y5H4-1]
RefSeqiNP_061735.1. NM_018912.2. [Q9Y5H4-1]
NP_114382.1. NM_031993.1. [Q9Y5H4-2]
UniGeneiHs.368160.

Genome annotation databases

EnsembliENST00000378105; ENSP00000367345; ENSG00000204956. [Q9Y5H4-2]
ENST00000517417; ENSP00000431083; ENSG00000204956. [Q9Y5H4-1]
GeneIDi56114.
KEGGihsa:56114.
UCSCiuc003lji.2. human. [Q9Y5H4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152318 mRNA. Translation: AAD43712.1.
CH471062 Genomic DNA. Translation: EAW61926.1.
AF152507 mRNA. Translation: AAD43768.1.
BC112082 mRNA. Translation: AAI12083.1.
BC112084 mRNA. Translation: AAI12085.1.
CCDSiCCDS54922.1. [Q9Y5H4-1]
RefSeqiNP_061735.1. NM_018912.2. [Q9Y5H4-1]
NP_114382.1. NM_031993.1. [Q9Y5H4-2]
UniGeneiHs.368160.

3D structure databases

ProteinModelPortaliQ9Y5H4.
SMRiQ9Y5H4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000431083.

PTM databases

iPTMnetiQ9Y5H4.
PhosphoSitePlusiQ9Y5H4.

Polymorphism and mutation databases

BioMutaiPCDHGA1.
DMDMi37999844.

Proteomic databases

PaxDbiQ9Y5H4.
PeptideAtlasiQ9Y5H4.
PRIDEiQ9Y5H4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378105; ENSP00000367345; ENSG00000204956. [Q9Y5H4-2]
ENST00000517417; ENSP00000431083; ENSG00000204956. [Q9Y5H4-1]
GeneIDi56114.
KEGGihsa:56114.
UCSCiuc003lji.2. human. [Q9Y5H4-1]

Organism-specific databases

CTDi56114.
DisGeNETi56114.
GeneCardsiPCDHGA1.
HGNCiHGNC:8696. PCDHGA1.
HPAiHPA008755.
HPA036547.
MIMi604968. gene.
606288. gene.
neXtProtiNX_Q9Y5H4.
OpenTargetsiENSG00000204956.
PharmGKBiPA33044.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H4.
KOiK16495.
OMAiHTTCSIP.
OrthoDBiEOG091G024L.
PhylomeDBiQ9Y5H4.
TreeFamiTF332299.

Enzyme and pathway databases

BioCyciZFISH:G66-33591-MONOMER.

Miscellaneous databases

ChiTaRSiPCDHGA1. human.
GenomeRNAii56114.
PROiQ9Y5H4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204956.
GenevisibleiQ9Y5H4. 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.
IPR030736. PCDHGA1.
[Graphical view]
PANTHERiPTHR24028:SF108. PTHR24028:SF108. 1 hit.
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 nameiPCDG1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5H4
Secondary accession number(s): Q2M273, Q9Y5D6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 137 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.