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Aliases for PCDHGA1 Gene

Aliases for PCDHGA1 Gene

  • Protocadherin Gamma Subfamily A, 1 2 3 5
  • PCDH-GAMMA-A1 3 4
  • Protocadherin Gamma-A1 3

External Ids for PCDHGA1 Gene

Previous GeneCards Identifiers for PCDHGA1 Gene

  • GC05P140526
  • GC05P141293
  • GC05P140693
  • GC05P140738
  • GC05P140690
  • GC05P141047
  • GC05P135855
  • GC05P141240
  • GC05P141288
  • GC05P141367
  • GC05P141440
  • GC05P141515
  • GC05P141622
  • GC05P141724
  • GC05P141823

Summaries for PCDHGA1 Gene

Entrez Gene Summary for PCDHGA1 Gene

  • This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHGA1 Gene

PCDHGA1 (Protocadherin Gamma Subfamily A, 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA2.

UniProtKB/Swiss-Prot for PCDHGA1 Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHGA1 Gene

Genomics for PCDHGA1 Gene

Regulatory Elements for PCDHGA1 Gene

Enhancers for PCDHGA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G141968 1.2 ENCODE 12.4 +639.0 638996 3.0 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 ZNF610 KIAA0141 PCDHGA5 PCDHB12 RNF14 PCDHB11 PCDHB4 PCDHB18P PCDHB15 PCDHB9 PCDHGA6
GH05G141601 2 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +275.4 275416 8.4 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A YY1 ZNF766 RELL2 HDAC3 FCHSD1 DIAPH1 LOC100505658 PCDHGA6 PCDHGB6 KIAA0141 PCDHGA1 PCDH12
GH05G141325 0.9 ENCODE 9.7 -4.4 -4399 1.1 TBP PKNOX1 ATF1 CBX3 ZNF48 RAD21 GATA2 CBX5 RCOR1 ETV6 PCDHB15 PCDHGA1 IK PCDHA11 ENSG00000272070 TAF7
GH05G141330 0.8 Ensembl 10.9 +0.3 330 0.2 KLF1 ZNF384 BCL11B ZNF335 ZNF324 PRDM10 ZBTB20 ZNF362 L3MBTL2 ZBTB11 PCDHGA1 PCDHG@ PCDHGA2
GH05G141679 1.3 ENCODE dbSUPER 5.1 +351.2 351240 4.7 HDGF ARNT SIN3A ZNF2 CBX5 FOS KLF13 ZNF263 SP3 REST KIAA0141 PCDHB18P ARAP3 PCDHGA7 PCDH1 PCDH12 RNF14 HDAC3 PCDHGA6 PCDHB11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHGA1 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHGA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187848 -71 200 BCOR CTCF ZNF223 ZMYM3 ZNF384 BCL11B RAD21 ZNF324 SMC3 ZNF143
ENSR00000187848 -185 200 BCOR CTCF ZNF223 ZMYM3 ZNF384 BCL11B RAD21 ZNF324 SMC3 ZNF143

Genomic Location for PCDHGA1 Gene

Chromosome:
5
Start:
141,330,571 bp from pter
End:
141,512,981 bp from pter
Size:
182,411 bases
Orientation:
Plus strand

Genomic View for PCDHGA1 Gene

Genes around PCDHGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGA1 Gene

Proteins for PCDHGA1 Gene

  • Protein details for PCDHGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5H4-PCDG1_HUMAN
    Recommended name:
    Protocadherin gamma-A1
    Protein Accession:
    Q9Y5H4
    Secondary Accessions:
    • Q2M273
    • Q9Y5D6

    Protein attributes for PCDHGA1 Gene

    Size:
    931 amino acids
    Molecular mass:
    101226 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGA1 Gene

Post-translational modifications for PCDHGA1 Gene

  • Glycosylation at posLast=265265, posLast=419419, Asn545, and Asn685
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHGA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHGA1 Gene

Domains & Families for PCDHGA1 Gene

Gene Families for PCDHGA1 Gene

Suggested Antigen Peptide Sequences for PCDHGA1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHGA1: view

No data available for UniProtKB/Swiss-Prot for PCDHGA1 Gene

Function for PCDHGA1 Gene

Molecular function for PCDHGA1 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Gene Ontology (GO) - Molecular Function for PCDHGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGA1: view
genes like me logo Genes that share phenotypes with PCDHGA1: view

Animal Models for PCDHGA1 Gene

MGI Knock Outs for PCDHGA1:

Animal Model Products

CRISPR Products

miRNA for PCDHGA1 Gene

miRTarBase miRNAs that target PCDHGA1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDHGA1 Gene

Localization for PCDHGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGA1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDHGA1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PCDHGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHGA1: view

Pathways & Interactions for PCDHGA1 Gene

SuperPathways for PCDHGA1 Gene

No Data Available

Interacting Proteins for PCDHGA1 Gene

Gene Ontology (GO) - Biological Process for PCDHGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development IBA --
genes like me logo Genes that share ontologies with PCDHGA1: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGA1 Gene

Drugs & Compounds for PCDHGA1 Gene

(1) Drugs for PCDHGA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCDHGA1: view

Transcripts for PCDHGA1 Gene

mRNA/cDNA for PCDHGA1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGA1 Gene

No ASD Table

Relevant External Links for PCDHGA1 Gene

GeneLoc Exon Structure for
PCDHGA1
ECgene alternative splicing isoforms for
PCDHGA1

Expression for PCDHGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHGA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCDHGA1 Gene

This gene is overexpressed in Heart (38.8) and Peripheral blood mononuclear cells (30.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHGA1 Gene



Protein tissue co-expression partners for PCDHGA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHGA1 Gene:

PCDHGA1

Evidence on tissue expression from TISSUES for PCDHGA1 Gene

  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHGA1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHGA1 Gene

Orthologs for PCDHGA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGA1 34
  • 98.62 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhga1 34
  • 82.42 (n)
mouse
(Mus musculus)
Mammalia Pcdhga1 34 16
  • 81.66 (n)
dog
(Canis familiaris)
Mammalia PCDHGA1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 67 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 66 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 50 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11957 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398725 34
Species where no ortholog for PCDHGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PCDHGA1 Gene

ENSEMBL:
Gene Tree for PCDHGA1 (if available)
TreeFam:
Gene Tree for PCDHGA1 (if available)

Paralogs for PCDHGA1 Gene

genes like me logo Genes that share paralogs with PCDHGA1: view

Variants for PCDHGA1 Gene

Sequence variations from dbSNP and Humsavar for PCDHGA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352347 Uncertain significance 141,485,635(+) CCGTT(A/G)GAAAA intron-variant, reference, synonymous-codon
rs1000014772 -- 141,409,727(+) TGAGC(A/G)CGCAG intron-variant, reference, missense
rs1000022316 -- 141,472,751(+) GAGGC(A/G)GAGGC intron-variant
rs1000098905 -- 141,353,769(+) TAATG(C/T)ATACT intron-variant, upstream-variant-2KB
rs1000136303 -- 141,452,887(+) TTATT(C/T)CACTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCDHGA1 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
esv2730847 CNV deletion 23290073
esv2759382 CNV gain 17122850
esv3422812 CNV insertion 20981092
esv3570470 CNV loss 25503493
esv3606980 CNV loss 21293372
esv3606981 CNV gain 21293372
esv3606982 CNV loss 21293372
esv3606983 CNV gain 21293372
esv3606984 CNV loss 21293372
esv3606985 CNV gain 21293372
esv3606987 CNV gain 21293372
nsv1123990 CNV deletion 24896259
nsv1125852 CNV tandem duplication 24896259
nsv327707 CNV deletion 16902084
nsv462470 CNV loss 19166990
nsv518799 CNV loss 19592680
nsv519627 CNV loss 19592680
nsv599921 CNV loss 21841781
nsv599922 CNV loss 21841781
nsv599923 CNV loss 21841781
nsv823279 CNV gain 20364138
nsv823280 CNV loss 20364138
nsv964962 CNV duplication 23825009
nsv968258 CNV duplication 23825009
nsv968259 CNV duplication 23825009
nsv980739 CNV duplication 23825009
nsv980740 CNV duplication 23825009

Variation tolerance for PCDHGA1 Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHGA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGA1 Gene

Disorders for PCDHGA1 Gene

Relevant External Links for PCDHGA1

Genetic Association Database (GAD)
PCDHGA1
Human Genome Epidemiology (HuGE) Navigator
PCDHGA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHGA1

No disorders were found for PCDHGA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHGA1 Gene

Publications for PCDHGA1 Gene

  1. A striking organization of a large family of human neural cadherin- like cell adhesion genes. (PMID: 10380929) Wu Q. … Maniatis T. (Cell 1999) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  5. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q. … Maniatis T. (Genome Res. 2001) 3 64

Products for PCDHGA1 Gene

Sources for PCDHGA1 Gene

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