PKD1 - polycystin 1, transient receptor potential channel interacting Gene
Also Known as PBP; PC1; Pc-1; TRPP1
Species: Homo sapiens
About PKD1
This gene has 40 transcripts (splice variants), 194 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 11.1), fat (RPKM 9.6) and 25 other tissues.
Summary
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PKD1 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| XM_047434211.1 | XP_047290167.1 | polycystin-1 isoform X6 |
| XM_047434212.1 | XP_047290168.1 | polycystin-1 isoform X7 |
| XM_047434210.1 | XP_047290166.1 | polycystin-1 isoform X5 |
| XM_047434213.1 | XP_047290169.1 | polycystin-1 isoform X9 |
| XM_005255370.4 | XP_005255427.1 | polycystin-1 isoform X10 |
| XM_011522529.3 | XP_011520831.1 | polycystin-1 isoform X4 |
| NM_000296.4 | NP_000287.4 | polycystin-1 isoform 2 precursor |
| XM_047434209.1 | XP_047290165.1 | polycystin-1 isoform X2 |
| XM_011522537.2 | XP_011520839.1 | polycystin-1 isoform X8 |
| XM_011522528.4 | XP_011520830.1 | polycystin-1 isoform X3 |
| NM_001009944.3 | NP_001009944.3 | polycystin-1 isoform 1 precursor |
| XM_047434208.1 | XP_047290164.1 | polycystin-1 isoform X1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables Wnt receptor activity |
IDA
IDA: Inferred from direct assay
|
27214281 | GOA |
| contributes to calcium channel activity |
IDA
IDA: Inferred from direct assay
|
27214281 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10097141 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
9171830 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
17980165 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
9192675 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
10770959 | GOA |
| part of calcium channel complex |
IDA
IDA: Inferred from direct assay
|
27214281 | GOA |
| part of cation channel complex |
IDA
IDA: Inferred from direct assay
|
30093605 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
28154160 | GOA |
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
15326289 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
30093605 | GOA |
| located in migrasome |
IDA
IDA: Inferred from direct assay
|
37681898 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23001567 | GOA |
| part of polycystin complex |
IPI
IPI: Inferred from physical interaction
|
11901144 | GOA |
PKD1 Protein Structure
LRRNT: Leucine rich repeat N-terminal domain (32 - 65)
LRR_8: Leucine rich repeat (71 - 126)
WSC: WSC domain (180 - 252)
PKD: PKD domain (279 - 344)
Lectin_C: Lectin C-type domain (426 - 531)
PKD: PKD domain (942 - 1006)
PKD: PKD domain (1024 - 1116)
PKD: PKD domain (1133 - 1202)
PKD: PKD domain (1221 - 1283)
PKD: PKD domain (1303 - 1368)
PKD: PKD domain (1389 - 1455)
PKD: PKD domain (1473 - 1536)
PKD: PKD domain (1553 - 1621)
PKD: PKD domain (1638 - 1708)
PKD: PKD domain (1723 - 1792)
PKD: PKD domain (1814 - 1877)
PKD: PKD domain (1893 - 1961)
PKD: PKD domain (1982 - 2050)
PKD: PKD domain (2068 - 2131)
REJ: REJ domain (2171 - 2613)
GPS: GPCR proteolysis site, GPS, motif (3012 - 3054)
PLAT: PLAT/LH2 domain (3120 - 3223)
PKD_channel: Polycystin cation channel (3712 - 4112)
- 0
- 700
- 1400
- 2100
- 2800
- 3500
- 4303 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycystin-1 |
|
|
PKD1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PKD1 | P98161 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD1 | P98161 | PKD2 | Homo sapiens | Q13563 | 10097141 | |
|
Intra
|
PKD1 | P98161 | PKD2 | Homo sapiens | Q13563-1 | 19556541 | |
|
Intra
|
PKD1 | P98161 | PKD2 | Homo sapiens | Q13563-1 | 19556541 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Hypertension, Essential |
|
|
| Steatocystoma Multiplex |
|
|
| Bardet-Biedl Syndrome |
|
|
| Multicystic Dysplastic Kidney |
|
|
| Cystic Fibrosis |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Deafness, Autosomal Recessive 77 |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Liver Disease |
|
|
| Cystic Kidney Disease |
|
|
| Cerebral Aneurysms |
|
|
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
|
| Kartagener Syndrome |
|
|
| Nephronophthisis |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Hemangioma |
|
|
| Cerebral Arterial Disease |
|
|
| Deafness, Autosomal Recessive 66 |
|
|
| Nephronophthisis 1 |
|
|
| End Stage Renal Disease |
|
|
| Oligohydramnios |
|
|
| Kidney Disease |
|
|
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
|
| Renal Dysplasia, Cystic |
|
|
| Intracranial Berry Aneurysm |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Autosomal Genetic Disease |
|
|
| Joubert Syndrome 1 |
|
|
| Fundus Dystrophy |
|
|
| Orthostatic Intolerance |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Tuberous Sclerosis |
|
|
| Situs Inversus |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Chronic Kidney Disease |
|
|
| Retinitis Pigmentosa |
|
|
| Polycystic Liver Disease |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Creatine Phosphokinase, Elevated Serum |
|
|
| Visceral Heterotaxy |
|
|
| Renovascular Hypertension |
|
|
| Marfan Syndrome |
|
|
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
|
| Nephronophthisis 2 |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Caroli Disease |
|
|
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PKD1 | RGD | RGD:3333 |
| Bos taurus | PKD1 | VGNC | VGNC:32933 |
| Felis catus | PKD1 | VGNC | VGNC:82450 |
| Mus musculus | PKD1 | MGD | MGI:97603 |
| Canis familiaris | PKD1 | VGNC | VGNC:44597 |
| Others | PKD1 | NCBI |