PDZK1 - PDZ domain containing 1 Gene

Homo sapiens

Also known as CAP70; CLAMP; PDZD1; NHERF3; NHERF-3

Gene ID: 5174 | Gene type: protein coding

About PDZK1

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:145,670,852-145,707,400 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and 3 paralogues. Biased expression in kidney (RPKM 203.4), small intestine (RPKM 48.1) and 3 other tissues.

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]

PDZK1 Products(5)

mRNA	Protein	Name
NM_001201325.2	NP_001188254.1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 1
NM_001201326.1	NP_001188255.1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 2
NM_001371359.1	NP_001358288.1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 3
NM_001371361.1	NP_001358290.1	Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 4
NM_002614.4	NP_002605.2	Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	16236806	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12471024	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in carnitine transport	IDA IDA: Inferred from direct assay	15523054	GOA
involved in positive regulation of cation transmembrane transport	IDA IDA: Inferred from direct assay	15523054	GOA
involved in positive regulation of ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	15523054	GOA
involved in positive regulation of protein localization to membrane	IMP IMP: Inferred from mutant phenotype	29752999	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in brush border	IDA IDA: Inferred from direct assay	9461128	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	29752999	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDZK1 Protein Structure

PDZ

0
100
200
300
400
519 a.a.

Protein Preferred Names

Protein Names

Na(+)/H(+) exchange regulatory cofactor NHE-RF3

CFTR-associated protein of 70 kDa

PDZK1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PDZK1	Q5T2W1	CLCN3	Homo sapiens	P51790-2	Anti Bait CoIP	12471024
Intra	PDZK1	Q5T2W1	CLCN3	Homo sapiens	P51790-2	Pull Down	12471024
Intra	PDZK1	Q5T2W1	CFTR	Homo sapiens	P13569	IF	11051556
Intra	PDZK1	Q5T2W1	CFTR	Homo sapiens	P13569	Anti Bait CoIP	11051556
Intra	PDZK1	Q5T2W1	CFTR	Homo sapiens	P13569	Anti Bait CoIP	12471024
Intra	PDZK1	Q5T2W1	CFTR	Homo sapiens	P13569	Pull Down	12471024
Intra	PDZK1	Q5T2W1	NDUFV2	Homo sapiens	P19404	Validated Y2H	32814053
Intra	PDZK1	Q5T2W1	NDUFV2	Homo sapiens	P19404	Y2H Pooling	32814053
Intra	PDZK1	Q5T2W1	NDUFV2	Homo sapiens	P19404	Y2H Array	32814053
Intra	PDZK1	Q5T2W1	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	PDZK1	Q5T2W1	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	PDZK1	Q5T2W1	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	PDZK1	Q5T2W1	ACE2	Homo sapiens	Q9BYF1	Anti Tag CoIP	34189428
Intra	PDZK1	Q5T2W1	ACE2	Homo sapiens	Q9BYF1	Pull Down	34835087

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Gout

Gouty Arthritis	Articular Gout
Gouty Arthropathy	Arthritis, Gouty
Arthritis Gouty	Idiopathic Gout
Idiopathic Gout, Unspecified Site	Gouty Bursitis
Uratic Arthritis	Gout Nos
Gouty	Gouty Diathesis

Hemochromatosis, Type 2a

Hemochromatosis Type 2a	HFE2A
Juvenile Hemochromatosis	Hemochromatosis 2a
Hefe2	Hemochromatosis Type 2
Jh

Inflammatory Diarrhea

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy	Mckd2
Familial Juvenile Hyperuricemic Nephropathy Type 1	Fjhn
Medullary Cystic Kidney Disease 2	Uromodulin-Associated Kidney Disease
Medullary Cystic Kidney Disease Type 2	ADTKD1
Hnfj1	Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
Adtkd-Umod	Familial Juvenile Hyperuricemic Nephropathy 1
Umod-Related Adtkd	Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemic Nephropathy, Familial Juvenile, 1	Gouty Nephropathy, Familial Juvenile
Medullary Cystic Kidney Disease 2, Autosomal Dominant	Admckd2
Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations	Adtkd Due To Umod Mutations
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	Autosomal Dominant Medullary Cystic Kidney Disease Type 2
Umod-Associated Kidney Disease	Uromodulin Kidney Disease
Familial Gout-Kidney Disease	Familial Gouty Nephropathy
Umak	Umod-Related Kidney Disease
Uromodulin Storage Disease	Fjhn1
Gouty Nephropathy Familial Juvenile	Nephropathy Familial With Gout
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy, Familial Juvenile
Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria	Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1
Kidney Disease, Cystic, Medullary, Type 2	Medullary Cystic Kidney Disease Type Ii
Familial Juvenile Gout

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10305	PDZK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS10306	PDZK1IP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDZK1	MGD	MGI:1928901
Felis catus	PDZK1	VGNC	VGNC:80300
Rattus norvegicus	PDZK1	RGD	RGD:70924
Bos taurus	PDZK1	VGNC	VGNC:55652
Macaca mulatta	PDZK1	VGNC	VGNC:100029
Others	PDZK1	NCBI

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