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Aliases for PCDHA1 Gene

Aliases for PCDHA1 Gene

  • Protocadherin Alpha 1 2 3 5
  • KIAA0345-Like 13 2 3
  • PCDH-Alpha-1 3 4
  • Protocadherin Alpha-1 3
  • PCDH-ALPHA1 3

External Ids for PCDHA1 Gene

Previous GeneCards Identifiers for PCDHA1 Gene

  • GC05P139982
  • GC05P140748
  • GC05P140150
  • GC05P140194
  • GC05P140146
  • GC05P135311
  • GC05P141231
  • GC05P141476
  • GC05P141583
  • GC05P141689

Summaries for PCDHA1 Gene

Entrez Gene Summary for PCDHA1 Gene

  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHA1 Gene

PCDHA1 (Protocadherin Alpha 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA2.

UniProtKB/Swiss-Prot for PCDHA1 Gene

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

Gene Wiki entry for PCDHA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHA1 Gene

Genomics for PCDHA1 Gene

Regulatory Elements for PCDHA1 Gene

Enhancers for PCDHA1 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
GH05F141039 1.6 FANTOM5 Ensembl ENCODE 11.9 +254.4 254399 2.6 PKNOX1 ATF1 ARID4B SIN3A ZNF48 YY1 ELK1 CBX5 ZNF143 KLF7 PCDHB16 PCDHA4 PCDHA1 PCDHA2 HARS PCDHA9 PCDHA5 PCDHA8 PCDHA7 PCDHB8
GH05F140594 1.3 FANTOM5 Ensembl ENCODE 11.9 -190.1 -190136 4.0 NFIA MIER1 CREB3L1 CEBPB MIER2 REST ZIC2 YY1 ZNF766 ATF3 CD14 APBB3 SRA1 TMCO6 PCDHA1 PCDHA2 HARS SLC35A4 MIR6831 PCDHA5
GH05F140710 1.2 ENCODE 12 -75.2 -75153 1.9 PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 ZNF143 PCDHA4 HDAC3 LOC102723915 HARS SRA1 TMCO6 PCDHA1 LOC101929719 WDR55 PCDHA2
GH05F140399 1.2 ENCODE 11.9 -384.1 -384108 4.7 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ZNF610 PURA PCDHA3 PCDHA2 PCDHA7 SRA1 VTRNA1-1 CD14 PCDHA1 PCDHB18P PCDHGA6
GH05F141743 0.8 ENCODE 11.8 +957.5 957453 0.2 TEAD4 FEZF1 ZSCAN9 ZIC2 HBP1 CHAMP1 ZBTB48 ZNF366 ZNF143 ZNF600 PCDHA1 PCDHA2 PCDHA5 KIAA0141 PCDHA10 PCDHA4 ARAP3 ENSG00000278925
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHA1 Gene

Chromosome:
5
Start:
140,786,136 bp from pter
End:
141,012,347 bp from pter
Size:
226,212 bases
Orientation:
Plus strand

Genomic View for PCDHA1 Gene

Genes around PCDHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHA1 Gene

Proteins for PCDHA1 Gene

  • Protein details for PCDHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5I3-PCDA1_HUMAN
    Recommended name:
    Protocadherin alpha-1
    Protein Accession:
    Q9Y5I3
    Secondary Accessions:
    • O75288
    • Q9NRT7

    Protein attributes for PCDHA1 Gene

    Size:
    950 amino acids
    Molecular mass:
    102952 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHA1 Gene

Post-translational modifications for PCDHA1 Gene

  • Glycosylation at Asn 257, Asn 265, and Asn 548
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHA1 Gene

Antibody Products

  • R&D Systems Antibodies for PCDHA1 (Protocadherin alpha 1)
  • Abcam antibodies for PCDHA1
  • Cloud-Clone Corp. Antibodies for PCDHA1

No data available for DME Specific Peptides for PCDHA1 Gene

Domains & Families for PCDHA1 Gene

Gene Families for PCDHA1 Gene

Protein Domains for PCDHA1 Gene

Suggested Antigen Peptide Sequences for PCDHA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5I3

UniProtKB/Swiss-Prot:

PCDA1_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHA1: view

Function for PCDHA1 Gene

Molecular function for PCDHA1 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 PCDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHA1: view
genes like me logo Genes that share phenotypes with PCDHA1: view

Animal Models for PCDHA1 Gene

MGI Knock Outs for PCDHA1:

Animal Model Products

miRNA for PCDHA1 Gene

miRTarBase miRNAs that target PCDHA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDHA1 Gene

Localization for PCDHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHA1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

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 PCDHA1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for PCDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane TAS 10380929
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCDHA1: view

Pathways & Interactions for PCDHA1 Gene

SuperPathways for PCDHA1 Gene

No Data Available

Interacting Proteins for PCDHA1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000420840%0d%0a9606.ENSP00000300574%0d%0a9606.ENSP00000362481%0d%0a9606.ENSP00000311113%0d%0a9606.ENSP00000344456%0d%0a9606.ENSP00000346155%0d%0a
Selected Interacting proteins: Q9Y5I3-PCDA1_HUMAN ENSP00000420840 for PCDHA1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PCDHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10380929
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development TAS 10380929
genes like me logo Genes that share ontologies with PCDHA1: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHA1 Gene

Drugs & Compounds for PCDHA1 Gene

(1) Drugs for PCDHA1 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 PCDHA1: view

Transcripts for PCDHA1 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHA1 Gene

No ASD Table

Relevant External Links for PCDHA1 Gene

GeneLoc Exon Structure for
PCDHA1
ECgene alternative splicing isoforms for
PCDHA1

Expression for PCDHA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCDHA1 Gene

mRNA differential expression in normal tissues according to GTEx for PCDHA1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.7) and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for PCDHA1 Gene

This gene is overexpressed in Pancreatic juice (51.1) and Bone marrow mesenchymal stem cell (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHA1 Gene



Protein tissue co-expression partners for PCDHA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHA1 Gene:

PCDHA1
genes like me logo Genes that share expression patterns with PCDHA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PCDHA1 Gene

Orthologs for PCDHA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHA1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdha1 34 16
  • 83.91 (n)
rat
(Rattus norvegicus)
Mammalia Pcdha1 34
  • 83.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 69 (a)
ManyToMany
-- 35
  • 68 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves PCDHA11 35
  • 53 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii pcdh1a6 35
  • 42 (a)
ManyToMany
pcdh2ab1 35
  • 42 (a)
ManyToMany
pcdh2ab8 35
  • 42 (a)
ManyToMany
CR847851.6 35
  • 41 (a)
ManyToMany
CT573264.4 35
  • 41 (a)
ManyToMany
pcdh2ab11 35
  • 41 (a)
ManyToMany
pcdh2ab12 35
  • 41 (a)
ManyToMany
pcdh2ab3 35
  • 41 (a)
ManyToMany
pcdh2ab6 35
  • 41 (a)
ManyToMany
pcdh2ab7 35
  • 41 (a)
ManyToMany
CR847851.8 35
  • 40 (a)
ManyToMany
CT573264.5 35
  • 40 (a)
ManyToMany
pcdh2ab10 35
  • 40 (a)
ManyToMany
pcdh2ab2 35 35
  • 40 (a)
ManyToMany
pcdh2ab9 35
  • 39 (a)
ManyToMany
Dr.19866 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
CSA.7308 35
  • 20 (a)
ManyToMany
Species where no ortholog for PCDHA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • dog (Canis familiaris)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHA1 Gene

ENSEMBL:
Gene Tree for PCDHA1 (if available)
TreeFam:
Gene Tree for PCDHA1 (if available)

Paralogs for PCDHA1 Gene

genes like me logo Genes that share paralogs with PCDHA1: view

Variants for PCDHA1 Gene

Sequence variations from dbSNP and Humsavar for PCDHA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs193920994 Uncertain significance 140,857,214(+) TCTGA(C/T)GCCTC intron-variant, reference, missense
rs386352344 Uncertain significance 140,795,974(+) AATTT(A/C/T)ATTAA intron-variant, reference, missense, stop-gained
rs386352345 Uncertain significance 140,803,127(+) CCCCG(C/T)GCCAT intron-variant, reference, missense
rs386352346 Uncertain significance 140,929,288(+) GATTC(A/G)GAATA intron-variant, reference, missense
rs587776956 Uncertain significance 140,802,947(+) CGCGG(C/T)CAGTG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PCDHA1 Gene

Variant ID Type Subtype PubMed ID
nsv10754 CNV gain 18304495
nsv1133616 CNV deletion 24896259
nsv1135376 CNV deletion 24896259
nsv1161301 OTHER complex 26073780
nsv330045 CNV deletion 16902084
nsv436885 CNV insertion 17901297
nsv437955 CNV loss 16468122
nsv442962 CNV loss 18776908
nsv514324 CNV loss 21397061
nsv10753 CNV gain 18304495
nsv10752 CNV gain+loss 18304495
nsv1031849 CNV loss 25217958
nsv1024237 CNV loss 25217958
esv8310 CNV loss 19470904
esv3890744 CNV loss 25118596
esv3606959 CNV gain 21293372
esv3606958 CNV loss 21293372
esv3606957 CNV gain 21293372
esv3606956 CNV loss 21293372
esv3606955 CNV loss 21293372
esv3566721 CNV deletion 23714750
esv33939 CNV gain+loss 17666407
esv29977 CNV gain 17803354
esv2861013 CNV duplication 24192839
esv2759382 CNV gain 17122850
esv2730839 CNV deletion 23290073
esv2730838 CNV deletion 23290073
esv27071 CNV loss 19812545
esv2659321 CNV deletion 23128226
esv2657537 CNV deletion 23128226
esv26168 CNV gain 19812545
esv2505753 CNV deletion 19546169
esv2421858 CNV deletion 20811451
esv21596 CNV gain 19812545
dgv972n67 CNV gain 20364138
dgv971n67 CNV loss 20364138
dgv970n67 CNV gain 20364138
dgv724n27 CNV loss 19166990
dgv3182n106 CNV deletion 24896259
dgv1653e212 CNV loss 25503493
dgv1652e212 CNV loss 25503493
dgv1651e212 CNV loss 25503493
dgv138e203 CNV loss 21179565
dgv1044e199 CNV deletion 23128226
dgv1043e199 CNV deletion 23128226
dgv10105n54 CNV loss 21841781
dgv10104n54 CNV loss 21841781
dgv10103n54 CNV loss 21841781
dgv10102n54 CNV loss 21841781
dgv10101n54 CNV loss 21841781
dgv10100n54 CNV loss 21841781
dgv10099n54 CNV loss 21841781
dgv10098n54 CNV loss 21841781
dgv10097n54 CNV loss 21841781
dgv10096n54 CNV loss 21841781
dgv10095n54 CNV loss 21841781
dgv10094n54 CNV loss 21841781
dgv10093n54 CNV loss 21841781
dgv10092n54 CNV loss 21841781
nsv980734 CNV duplication 23825009
nsv968992 CNV duplication 23825009
nsv968252 CNV duplication 23825009
nsv968251 CNV duplication 23825009
nsv964956 CNV duplication 23825009
nsv964955 CNV duplication 23825009
nsv964954 CNV duplication 23825009
nsv964953 CNV duplication 23825009
nsv964951 CNV duplication 23825009
nsv964950 CNV duplication 23825009
nsv964949 CNV duplication 23825009
nsv964948 CNV duplication 23825009
nsv964947 CNV duplication 23825009
nsv964946 CNV duplication 23825009
nsv950415 CNV duplication 24416366
nsv830508 CNV loss 17160897
nsv823264 CNV gain 20364138
nsv823263 CNV gain 20364138
nsv823262 CNV gain 20364138
nsv823251 CNV gain 20364138
nsv820841 CNV deletion 20802225
nsv819207 CNV gain 19587683
nsv599904 CNV loss 21841781
nsv599903 CNV loss 21841781
nsv599902 CNV loss 21841781
nsv599894 CNV loss 21841781
nsv599870 CNV loss 21841781
nsv599864 CNV loss 21841781
nsv599859 CNV loss 21841781
nsv599842 CNV loss 21841781
nsv599841 CNV loss 21841781
nsv599839 CNV gain 21841781
nsv515909 CNV loss 19592680

Variation tolerance for PCDHA1 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHA1 Gene

Disorders for PCDHA1 Gene

Relevant External Links for PCDHA1

Genetic Association Database (GAD)
PCDHA1
Human Genome Epidemiology (HuGE) Navigator
PCDHA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHA1

No disorders were found for PCDHA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHA1 Gene

Publications for PCDHA1 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. Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia. (PMID: 18496207) Lachman H.M. … Stopkova P. (Psychiatr. Genet. 2008) 3 46 64
  3. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 64
  4. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox C.S. … Borecki I.B. (PLoS Genet. 2012) 3 64
  5. CTCF/cohesin-mediated DNA looping is required for protocadherin I+ promoter choice. (PMID: 23204437) Guo Y. … Wu Q. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 64

Products for PCDHA1 Gene

Sources for PCDHA1 Gene

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