PKD1

GENERAL INFORMATION

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Gene name

PKD1

Gene description

Polycystic kidney disease 1 (autosomal dominant)

Protein class

Disease related genes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Group enriched (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
CAB046448
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum)

Organ

Expression



GENE INFORMATION

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Gene name

PKD1 (HGNC Symbol)

Synonyms

PBP, Pc-1, TRPP1

Description

Polycystic kidney disease 1 (autosomal dominant) (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

p13.3

Chromosome location (bp)

2088710 - 2135898

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000008710 (version 78.38)

Entrez gene

5310

UniProt

P98161 (UniProt - Evidence at protein level)

neXtProt

NX_P98161

Antibodypedia

PKD1 antibodies


PROTEIN BROWSER

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ENST00000262304
 
ENST00000423118
 
ENST00000483024
 
ENST00000488185
 
ENST00000567946
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKD1-001 ENSP00000262304
ENST00000262304
P98161
Show all »
Show » Show » 4303 462.5 Yes >9
PKD1-002 ENSP00000399501
ENST00000423118
P98161
Show all »
Show » Show » 4302 462.4 Yes >9
PKD1-011 ENSP00000456672
ENST00000488185
Show » 246 25.6 No 0
PKD1-015 ENSP00000456670
ENST00000483024
Show » 155 16.8 No 0
PKD1-028 ENSP00000457984
ENST00000567946
Show » Show » 607 67.1 No 3