PDZK1 - PDZ domain containing 1 Gene

中文名称：含 PDZ 结构域 1

种属: Homo sapiens

同用名: CAP70; CLAMP; PDZD1; NHERF3; NHERF-3

基因 ID: 5174 | 基因类型: protein coding

关于 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.

功能概要

该基因编码含有 PDZ 结构域的支架蛋白。含有 PDZ 结构域的分子结合并介导靶蛋白的亚细胞定位。编码的蛋白质介导细胞表面蛋白的定位，并通过调节 HDL 受体、B 类清道夫受体 1 型在胆固醇代谢中发挥关键作用。该基因的单核苷酸多态性可能与代谢综合征有关，该基因的过表达可能在多发性骨髓瘤的耐药中发挥作用。该基因的假基因位于 1 号染色体的长臂上。已观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables PDZ domain binding	IPI IPI: 通过物理相互作用推断	16236806	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12471024	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in carnitine transport	IDA IDA: 通过直接分析推断	15523054	GOA
involved in positive regulation of cation transmembrane transport	IDA IDA: 通过直接分析推断	15523054	GOA
involved in positive regulation of ion transmembrane transporter activity	IDA IDA: 通过直接分析推断	15523054	GOA
involved in positive regulation of protein localization to membrane	IMP IMP: 通过突变表型推断	29752999	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in brush border	IDA IDA: 通过直接分析推断	9461128	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	29752999	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PDZK1 蛋白结构

PDZ

0
100
200
300
400
519 a.a.

蛋白主名

其他名称

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

CFTR-associated protein of 70 kDa

PDZK1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10305	PDZK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS10306	PDZK1IP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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