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Q9Y5H4

- PCDG1_HUMAN

UniProt

Q9Y5H4 - PCDG1_HUMAN

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Protein

Protocadherin gamma-A1

Gene

PCDHGA1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:8696. PCDHGA1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 692664ExtracellularSequence AnalysisAdd
BLAST
Transmembranei693 – 71321HelicalSequence AnalysisAdd
BLAST
Topological domaini714 – 931218CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33044.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence AnalysisAdd
BLAST
Chaini29 – 931903Protocadherin gamma-A1PRO_0000003948Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence Analysis
Glycosylationi419 – 4191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi685 – 6851N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y5H4.
PRIDEiQ9Y5H4.

PTM databases

PhosphoSiteiQ9Y5H4.

Expressioni

Gene expression databases

BgeeiQ9Y5H4.
ExpressionAtlasiQ9Y5H4. baseline and differential.
GenevestigatoriQ9Y5H4.

Organism-specific databases

HPAiHPA008755.
HPA036547.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5H4.
SMRiQ9Y5H4. Positions 27-666.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 133105Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini134 – 242109Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini243 – 347105Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini348 – 452105Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini453 – 562110Cadherin 5PROSITE-ProRule annotationAdd
BLAST
Domaini570 – 682113Cadherin 6PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG256872.
GeneTreeiENSGT00760000118847.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H4.
KOiK16495.
OMAiRIRVQVV.
OrthoDBiEOG7KSX80.
PhylomeDBiQ9Y5H4.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521V → I.2 Publications
Corresponds to variant rs2472647 [ dbSNP | Ensembl ].
VAR_021882
Natural varianti282 – 2821H → Q.
Corresponds to variant rs17097185 [ dbSNP | Ensembl ].
VAR_048555

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei808 – 82316QAPPN…QAQRP → VNFCDECISYLEKNNS in isoform 2. 2 PublicationsVSP_008659Add
BLAST
Alternative sequencei824 – 931108Missing in isoform 2. 2 PublicationsVSP_008660Add
BLAST

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]
uc011dan.2. human. [Q9Y5H4-2]

Polymorphism databases

DMDMi37999844.

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 .
CCDSi CCDS54922.1. [Q9Y5H4-1 ]
RefSeqi NP_061735.1. NM_018912.2. [Q9Y5H4-1 ]
NP_114382.1. NM_031993.1. [Q9Y5H4-2 ]
UniGenei Hs.368160.

3D structure databases

ProteinModelPortali Q9Y5H4.
SMRi Q9Y5H4. Positions 27-666.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q9Y5H4.

Polymorphism databases

DMDMi 37999844.

Proteomic databases

PaxDbi Q9Y5H4.
PRIDEi Q9Y5H4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378105 ; ENSP00000367345 ; ENSG00000204956 . [Q9Y5H4-2 ]
ENST00000517417 ; ENSP00000431083 ; ENSG00000204956 . [Q9Y5H4-1 ]
GeneIDi 56114.
KEGGi hsa:56114.
UCSCi uc003lji.2. human. [Q9Y5H4-1 ]
uc011dan.2. human. [Q9Y5H4-2 ]

Organism-specific databases

CTDi 56114.
GeneCardsi GC05P141367.
HGNCi HGNC:8696. PCDHGA1.
HPAi HPA008755.
HPA036547.
MIMi 604968. gene.
606288. gene.
neXtProti NX_Q9Y5H4.
PharmGKBi PA33044.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG256872.
GeneTreei ENSGT00760000118847.
HOGENOMi HOG000220892.
HOVERGENi HBG054878.
InParanoidi Q9Y5H4.
KOi K16495.
OMAi RIRVQVV.
OrthoDBi EOG7KSX80.
PhylomeDBi Q9Y5H4.
TreeFami TF332299.

Miscellaneous databases

ChiTaRSi PCDHGA1. human.
GenomeRNAii 56114.
NextBioi 61597.
PROi Q9Y5H4.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5H4.
ExpressionAtlasi Q9Y5H4. baseline and differential.
Genevestigatori Q9Y5H4.

Family and domain databases

Gene3Di 2.60.40.60. 6 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view ]
Pfami PF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 6 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 6 hits.
PROSITEi PS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

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: October 29, 2014
This is version 119 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

External Data

Dasty 3