1. Gene
  2. PKD1L3 - polycystin 1 like 3, transient receptor potential channel interacting Gene

PKD1L3 - polycystin 1 like 3, transient receptor potential channel interacting Gene

中文名称:polycystin 1 like 3,瞬时受体电位通道相互作用

种属: Homo sapiens

基因 ID: 342372 | 基因类型: protein coding

关于 PKD1L3

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,929,538-72,000,402 (from NCBI)

This gene has 1 transcript (splice variant), 325 orthologues and 10 paralogues. Ubiquitous expression in gall bladder (RPKM 11.1), spleen (RPKM 10.8) and 25 other tissues.

功能概要

该基因编码多囊蛋白家族的一个成员。编码的蛋白质包含 11 个跨膜结构域、一个 latrophilin/CL-1 样 GPCR 蛋白水解位点 (GPS) 结构域和一个 polycystin-1、脂氧合酶、α-毒素 (PLAT) 结构域。这种蛋白质可能作为阳离子通道孔的成分发挥作用。[RefSeq 提供,2009 年 4 月]

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, Lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

PKD1L3 基因产物(1)

mRNA Protein Name
NM_181536.2 NP_853514.1 polycystic kidney disease protein 1-like 3 precursor
蛋白主名 其他名称

polycystic kidney disease protein 1-like 3

PC1-like 3 protein

关联疾病

疾病名称 别名
Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal Dysplasia Maroteaux Type

Pseudo-Morquio Syndrome Type 2

Sed, Maroteaux Type

Brachyolmia Type 2

Pseudo-Morquio Syndrome, Type 2

Spondyloepiphyseal Dysplasia Of Maroteaux

Brachyolmia Maroteaux Type

SEDM

Sed Maroteaux Type

Dysplasia, Spondyloepiphyseal, Maroteaux Type

Parastremmatic Dwarfism

Parastremmatic Dysplasia

PSTD

Dwarfism, Parastremmatic

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

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 PKD1L3 RGD RGD:2324490
Macaca mulatta PKD1L3 VGNC VGNC:75846
Bos taurus PKD1L3 VGNC VGNC:32934
Mus musculus PKD1L3 MGD MGI:2664670
Canis familiaris PKD1L3 VGNC VGNC:44599