1. Gene
  2. PCDH1 - protocadherin 1 Gene

PCDH1 - protocadherin 1 Gene

中文名称:原钙粘蛋白 1

种属: Homo sapiens

同用名: PC42; PCDH42

基因 ID: 5097 | 基因类型: protein coding

关于 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.

功能概要

该基因属于钙粘蛋白超家族中的原钙粘蛋白亚家族。编码的蛋白质是在细胞-细胞边界发现的膜蛋白。它参与神经细胞粘附,表明可能在神经元发育中发挥作用。该蛋白质包括一个细胞外区域,其中包含 7 个钙粘蛋白样结构域、一个跨膜区域和一个 C 末端胞质区域。表达该蛋白的细胞表现出细胞聚集活性。选择性剪接发生在该基因中。[RefSeq 提供,2008 年 7 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

protocadherin-1

cadherin-like 1

重组 PCDH1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71187 PCDH1 Protein, Human (HEK293, His) Q08174 (T58-N852) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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