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Q9Y5H4 (PCDG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protocadherin gamma-A1

Short name=PCDH-gamma-A1
Gene names
Name:PCDHGA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length931 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity.

Sequence similarities

Contains 6 cadherin domains.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processhomophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y5H4-1)

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.
Isoform 2 (identifier: Q9Y5H4-2)

Also known as: Short;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 931903Protocadherin gamma-A1
PRO_0000003948

Regions

Topological domain29 – 692664Extracellular Potential
Transmembrane693 – 71321Helical; Potential
Topological domain714 – 931218Cytoplasmic Potential
Domain29 – 133105Cadherin 1
Domain134 – 242109Cadherin 2
Domain243 – 347105Cadherin 3
Domain348 – 452105Cadherin 4
Domain453 – 562110Cadherin 5
Domain570 – 682113Cadherin 6

Amino acid modifications

Glycosylation2651N-linked (GlcNAc...) Potential
Glycosylation4191N-linked (GlcNAc...) Potential
Glycosylation5451N-linked (GlcNAc...) Potential
Glycosylation6851N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence808 – 82316QAPPN…QAQRP → VNFCDECISYLEKNNS in isoform 2.
VSP_008659
Alternative sequence824 – 931108Missing in isoform 2.
VSP_008660
Natural variant1521V → I. Ref.2 Ref.3
Corresponds to variant rs2472647 [ dbSNP | Ensembl ].
VAR_021882
Natural variant2821H → Q.
Corresponds to variant rs17097185 [ dbSNP | Ensembl ].
VAR_048555

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 7B2E8BB616116197

FASTA931101,226
        10         20         30         40         50         60 
MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK DLGLQPQELA 

        70         80         90        100        110        120 
DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM PCLVSFNILV EDKMKLFPVE 

       130        140        150        160        170        180 
VEIIDINDNT PQFQLEELEF KMNEITTPGT RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL 

       190        200        210        220        230        240 
DVQQGADGPQ HPEMVLQSPL DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP 

       250        260        270        280        290        300 
AFTQAQYHIN VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE 

       310        320        330        340        350        360 
ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT SVTTAVPENF 

       370        380        390        400        410        420 
PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN YYRLVTERTL DRELISGYNI 

       430        440        450        460        470        480 
TITAIDQGTP ALSTETHISL LVTDINDNSP VFHQDSYSAY IPENNPRGAS IFSVRAHDLD 

       490        500        510        520        530        540 
SNENAQITYS LIEDTIQGAP LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP 

       550        560        570        580        590        600 
PLSSNVSLSL FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ 

       610        620        630        640        650        660 
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL 

       670        680        690        700        710        720 
TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV SCVFLAFVIV LLAHRLRRWH 

       730        740        750        760        770        780 
KSRLLQASGG GLASMPGSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI 

       790        800        810        820        830        840 
SQESCEKKGF LSAPQSLLED KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN 

       850        860        870        880        890        900 
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN 

       910        920        930 
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 94F394B6353AF82C
Show »

FASTA82390,160

References

« Hide 'large scale' references
[1]"A striking organization of a large family of human neural cadherin-like cell adhesion genes."
Wu Q., Maniatis T.
Cell 97:779-790(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain.
[2]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-152.
[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 2), VARIANT ILE-152.
Tissue: Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS54922.1. [Q9Y5H4-1]
RefSeqNP_061735.1. NM_018912.2. [Q9Y5H4-1]
NP_114382.1. NM_031993.1. [Q9Y5H4-2]
UniGeneHs.368160.

3D structure databases

ProteinModelPortalQ9Y5H4.
SMRQ9Y5H4. Positions 27-666.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9Y5H4.

Polymorphism databases

DMDM37999844.

Proteomic databases

PaxDbQ9Y5H4.
PRIDEQ9Y5H4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378105; ENSP00000367345; ENSG00000204956. [Q9Y5H4-2]
ENST00000517417; ENSP00000431083; ENSG00000204956. [Q9Y5H4-1]
GeneID56114.
KEGGhsa:56114.
UCSCuc003lji.2. human. [Q9Y5H4-1]
uc011dan.2. human. [Q9Y5H4-2]

Organism-specific databases

CTD56114.
GeneCardsGC05P141288.
HGNCHGNC:8696. PCDHGA1.
HPAHPA008755.
HPA036547.
MIM604968. gene.
606288. gene.
neXtProtNX_Q9Y5H4.
PharmGKBPA33044.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG256872.
HOGENOMHOG000220892.
HOVERGENHBG054878.
InParanoidQ9Y5H4.
KOK16495.
OMARIRVQVV.
OrthoDBEOG7KSX80.
PhylomeDBQ9Y5H4.
TreeFamTF332299.

Gene expression databases

ArrayExpressQ9Y5H4.
BgeeQ9Y5H4.
GenevestigatorQ9Y5H4.

Family and domain databases

Gene3D2.60.40.60. 6 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 6 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 6 hits.
PROSITEPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPCDHGA1. human.
GenomeRNAi56114.
NextBio61597.
PROQ9Y5H4.
SOURCESearch...

Entry information

Entry namePCDG1_HUMAN
AccessionPrimary (citable) accession number: Q9Y5H4
Secondary accession number(s): Q2M273, Q9Y5D6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM