PKHD1

GENERAL INFORMATION

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Gene name

PKHD1

Gene description

Polycystic kidney and hepatic disease 1 (autosomal recessive)

Protein class

Disease related genes
Plasma proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, pancreas)
GTEx:Group enriched (kidney, pancreas)

Protein evidence

Evidence at protein level

Protein localization

High cytoplasmic expression in kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
HPA031227
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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:  Group enriched (kidney, pancreas)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, pancreas)

Organ

Expression



GENE INFORMATION

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Gene name

PKHD1 (HGNC Symbol)

Synonyms

ARPKD, FCYT, TIGM1

Description

Polycystic kidney and hepatic disease 1 (autosomal recessive) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

Chromosome location (bp)

51615300 - 52087625

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000170927 (version 78.38)

Entrez gene

5314

UniProt

P08F94 (UniProt - Evidence at protein level)

neXtProt

NX_P08F94

Antibodypedia

PKHD1 antibodies


PROTEIN BROWSER

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ENST00000340994
 
ENST00000371117
 
 
 
 


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)

PKHD1-001 ENSP00000360158
ENST00000371117
P08F94
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Show » Show » 4074 446.7 Yes 1
PKHD1-002 ENSP00000341097
ENST00000340994
P08F94
Show all »
Show » Show » 3396 371.7 Yes 0