PKD1 (polycystin 1, transient receptor potential channel interacting)

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Gene: PKD1 (polycystin 1, transient receptor potential channel interacting) Homo sapiens

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Symbol:

PKD1

Name:

polycystin 1, transient receptor potential channel interacting

RGD ID:

736706

HGNC Page

HGNC:9008

Description:

Enables several functions, including Wnt receptor activity; protein kinase binding activity; and transmembrane transporter binding activity. Contributes to calcium channel activity. Involved in several processes, including kidney development; mitocytosis; and nervous system development. Acts upstream of or within regulation of proteasomal protein catabolic process. Located in several cellular components, including basolateral plasma membrane; extracellular exosome; and migrasome. Part of calcium channel complex and polycystin complex. Implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

autosomal dominant polycystic kidney disease 1 protein; PBP; Pc-1; PC1; polycystic kidney disease 1 (autosomal dominant); polycystic kidney disease 1 homolog; polycystic kidney disease-associated protein; polycystin 1; polycystin-1; transient receptor potential cation channel, subfamily P, member 1; TRPP1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

PKD1P1 PKD1P2 PKD1P3 PKD1P3-NPIPA1 PKD1P4 PKD1P4-NPIPA8 PKD1P5 PKD1P5-LOC105376752 PKD1P6 PKD1P6-NPIPP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Annotation category: suggests misassembly

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	2,088,708 - 2,135,898 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	2,088,708 - 2,135,898 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	2,138,709 - 2,185,899 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	2,078,712 - 2,125,900 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	2,078,711 - 2,125,900	NCBI
Celera	16	2,350,824 - 2,400,282 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	2,063,439 - 2,112,133 (-)	NCBI		HuRef
CHM1_1	16	2,138,626 - 2,185,837 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	2,108,809 - 2,158,372 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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