1. Gene
  2. PCDH1 - protocadherin 1 Gene

PCDH1 - protocadherin 1 Gene

Homo sapiens

Also known as PC42; PCDH42

Gene ID: 5097 | Gene type: protein coding

About PCDH1

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,853,090-141,878,410 (from NCBI)

This gene has 8 transcripts (splice variants), 274 orthologues and 33 paralogues. Ubiquitous expression in brain (RPKM 10.0), colon (RPKM 8.9) and 22 other tissues.

Summary

This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]

PCDH1 Products(4)

mRNA Protein Name
NM_001278613.2 NP_001265542.1 protocadherin-1 isoform 3
NM_001278615.1 NP_001265544.1 protocadherin-1 isoform 4
NM_002587.5 NP_002578.2 protocadherin-1 isoform 1 precursor
NM_032420.5 NP_115796.2 protocadherin-1 isoform 2 precursor

PCDH1 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (60 - 140)

Cadherin

Cadherin: Cadherin domain (175 - 271)

Cadherin

Cadherin: Cadherin domain (285 - 377)

Cadherin

Cadherin: Cadherin domain (402 - 496)

Cadherin

Cadherin: Cadherin domain (513 - 603)

Cadherin

Cadherin: Cadherin domain (617 - 706)

Cadherin

Cadherin: Cadherin domain (731 - 812)

Protocadherin

Protocadherin: Protocadherin (815 - 1029)

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  • 1000
  • 1060 a.a.
Protein Preferred Names Protein Names

protocadherin-1

cadherin-like 1

Recombinant PCDH1 Proteins

Cat. No. Product Name Accession Purity
HY-P71187 PCDH1 Protein, Human (HEK293, His) Q08174 (T58-N852) ≥95%

Related Diseases

Diseases Alias
Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Hantavirus Pulmonary Syndrome

Hps

Four Corners Hantavirus

Hards

Hantavirus

Hantavirus-Associated Respiratory Distress Syndrome

Hanta Virus

Hantavirus Cardiopulmonary Syndrome

Hps - [Hantavirus Pulmonary Syndrome]

Hcps - [Hantavirus Cardiopulmonary Syndrome]

Hantavirus Hemorrhagic Fever With Renal Syndrome

Hemorrhagic Fever, Russian

Hemorrhagic Nephrosonephritis

Hfrs

Puumala Virus Nephropathy

Hemorrhagic Fever With Renal Syndrome

Esophageal Atresia/Tracheoesophageal Fistula

Esophageal Atresia And/Or Tracheoesophageal Fistula

Tracheoesophageal Fistula With Or Without Esohageal Atresia

Esophageal Atresia / Tracheoesophageal Fistula

Ea/Tef

Esophageal Atresia With Tracheoesophageal Fistula

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy

XECD

Endothelial Corneal Dystrophy, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PCDH1 RGD RGD:1308490
Canis familiaris PCDH1 VGNC VGNC:44294
Bos taurus PCDH1 VGNC VGNC:32615
Felis catus PCDH1 VGNC VGNC:68715
Macaca mulatta PCDH1 VGNC VGNC:75775
Mus musculus PCDH1 MGD MGI:104692
Others PCDH1 NCBI