InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PDZK1

Summary

InnateDB Gene

IDBG-101779.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDZK1

Gene Name

PDZ domain containing 1

Synonyms

CAP70; CLAMP; NHERF-3; NHERF3; PDZD1

Species

Homo sapiens

Ensembl Gene

ENSG00000174827

Encoded Proteins

IDBP-101783

PDZ domain containing 1

IDBP-388103

PDZ domain containing 1

IDBP-388104

PDZ domain containing 1

IDBP-388105

PDZ domain containing 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:145670852-145708148

Strand

Reverse strand

Band

q21.1

Transcripts

ENST00000344770	ENSP00000342143
ENST00000443667	ENSP00000409291
ENST00000417171	ENSP00000394485
ENST00000451928	ENSP00000403422
ENST00000429537
ENST00000465595
ENST00000466386

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	35 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005124	scavenger receptor binding
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0030165	PDZ domain binding
GO:0032403	protein complex binding

Biological Process

GO:0006810	transport
GO:0008283	cell proliferation
GO:0015879	carnitine transport
GO:0015893	drug transport
GO:0034767	positive regulation of ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0090002	establishment of protein localization to plasma membrane
GO:0090314	positive regulation of protein targeting to membrane

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016324	apical plasma membrane
GO:0031526	brush border membrane
GO:0031528	microvillus membrane
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000038298

View Gene Order

ENSBTAG00000005810

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

Q5T2W1

TrEMBL

UniProt Splice Variant

Entrez Gene

5174

UniGene

Hs.444751 Hs.709809

RefSeq

NM_001201325 NM_001201326 NM_002614

HUGO

HGNC:8821

OMIM

603831

CCDS

CCDS72859 CCDS72860

HPRD

04829

IMGT

EMBL

AF012281 AK298269 AL390725 BC006496 BC006518

GenPept

AAC12264 AAH06496 AAH06518 BAG60531 CAI13715 CAI13716

RNA Seq Atlas

5174