TAG for PKD1

Gene content

Symbol

PKD1 ( by HUGO)

Name

Polycystic Kidney Disease 1 (Autosomal Dominant)

Category

Tumor suppressor gene

Alias

Polycystic Kidney Disease 1 (Autosomal Dominant)
Polycystin 1
Autosomal Dominant Polycystic Kidney Disease 1 Protein
Member 1
Subfamily P
Transient Receptor Potential Cation Channel
PBP
Pc-1
TRPP1
Polycystic Kidney Disease-Associated Protein
polycystin-1
Transient Receptor Potential Cation Channel
Subfamily P
Member 1

Cytogenetic band

NCBI: 16p13.3 Ensembl: 16p13.3

Protein information

PKD1_HUMAN

Size: 4303 amino acids

Mass: 462529 Da

Subunit: Interacts with PKD2 and PKD2L1. Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney. Interacts with NPHP1 (via SH3 domain) Caution: Variant Cys-2379 has been originally described as a benign polymorphism (PubMed:10854095). However, it is a likely pathogenic mutation (PubMed:PubMed:22508176) 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for PKD1: 1B4R (3D) [IMAGE]

Function:

UniProtKB/Swiss-Prot Summary: PKD1_HUMAN, P98161 Function: Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions

Similarity:

Belongs to the polycystin family

Contains 1 C-type lectin domain

Contains 1 GPS domain

Contains 1 LDL-receptor class A domain

Contains 2 LRR (leucine-rich) repeats

Contains 1 LRRCT domain

Contains 1 LRRNT domain

Contains 17 PKD domains

Contains 1

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000203	GPS	GPS	Domain
	IPR000372	LRR-contain_N	Cysteine-rich flanking region, N-terminal	Domain
	IPR000434	PKD_1	Polycystic kidney disease type 1 protein	Family
	IPR000483	Cys-rich_flank_reg_C	Cysteine-rich flanking region, C-terminal	Domain
	IPR000601	PKD_dom	PKD	Domain
	IPR001024	PLAT/LH2_dom	Lipoxygenase, LH2	Domain
	IPR001304	C-type_lectin	C-type lectin	Domain
	IPR001611	Leu-rich_rpt	Leucine-rich repeat	Repeat
	IPR002859	PKD/REJ-like	PKD/REJ-like protein	Domain
	IPR002889	WSC_carb-bd	Carbohydrate-binding WSC	Domain
	IPR003591	Leu-rich_rpt_typical-subtyp	Leucine-rich repeat, typical subtype	Repeat
	IPR006228	Polycystin_cat	Polycystin cation channel	Domain
	IPR008976	Lipase_LipOase	Lipase/lipooxygenase, PLAT/LH2	Domain
Blocks	IPB000372	Cysteine-rich flanking region	Cysteine-rich flanking region, N-terminal
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000434	Polycystic kidney disease type 1 protein (PKD1) signature IPB000483 Cysteine-rich flanking region IPB002889 Carbohydrate-binding WSC	Polycystic kidney disease type 1 protein (PKD1) signature
	IPB000601	PKD	PKD
	IPB002859	PKD/REJ-like protein	PKD/REJ-like protein

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	anatomical structure morphogenesis	TAS	GOA	9326937
	branching morphogenesis of an epithelial tube	IDA	GOA	12482949
	calcium-independent cell-matrix adhesion	TAS	GOA	10861291
	cartilage development	IEP	GOA	11891195
	cell-matrix adhesion	TAS	GOA	7663510
	digestive tract development	IEP	GOA	11891195
	genitalia development	IEP	GOA	11891195
	heart development	IEP	GOA	11891195
	homophilic cell adhesion via plasma membrane adhesion molecules	TAS	GOA	10861291
	lung epithelium development	IEP	GOA	11891195
	mesonephric duct development	IEP	GOA	11891195
	mesonephric tubule development	IEP	GOA	11891195
	metanephric ascending thin limb development	IEP	GOA	11891195
	metanephric collecting duct development	IEP	GOA	11891195
	metanephric distal tubule morphogenesis	IEP	GOA	11891195
	metanephric proximal tubule development	IEP	GOA	11891195
	neural tube development	IEP	GOA	11891195
	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	GOA	16311606
	positive regulation of transcription from RNA polymerase II promoter	IDA	GOA	16311606
	skin development	IEP	GOA	11891195
	spinal cord development	IEP	GOA	11891195
Cellular Component	basolateral plasma membrane	IDA	GOA	10770959
	extracellular vesicular exosome	IDA	GOA	15326289
	integral component of membrane	NAS	GOA	10097141
	integral component of plasma membrane	TAS	GOA	7663510
Molecular Function	ion channel binding	IPI	GOA	9192675
	protein binding	IPI	GOA	15563610
	protein domain specific binding	IPI	GOA	9171830
	protein kinase binding	IPI	GOA	17980165

Disorder & Mutation
Source	Disease
SWISS-PROT	Polycystic kidney disease 1 (PKD1) [MIM:173900]: A disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. Note=The disease is caused by mutations affecting the gene represented in this entry

PKD1 cross reference