PKHD1

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 VIEW

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PKHD1-001
 
PKHD1-002
 
 
 
 
 

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