PSPH - phosphoserine phosphatase Gene

中文名称：磷酸丝氨酸磷酸酶

种属: Homo sapiens

同用名: PSP; PSPHD

基因 ID: 5723 | 基因类型: protein coding

关于 PSPH

Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:56,011,064-56,051,444 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 3.8), thyroid (RPKM 3.1) and 25 other tissues.

功能概要

该基因编码的蛋白质属于磷酸转移酶的一个亚家族。这种编码的酶负责 L-丝氨酸形成的第三步也是最后一步。它催化 L-磷酸丝氨酸的镁依赖性水解，并且还参与 L-丝氨酸和 L-磷酸丝氨酸之间的交换反应。这种蛋白质的缺乏被认为与威廉姆斯综合症有关。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]

PSPH 基因产物(21)

mRNA	Protein	Name
NM_001370503.1	NP_001357432.1	phosphoserine phosphatase
NM_001370504.1	NP_001357433.1	phosphoserine phosphatase
NM_001370505.1	NP_001357434.1	phosphoserine phosphatase
NM_001370506.1	NP_001357435.1	phosphoserine phosphatase
NM_001370507.1	NP_001357436.1	phosphoserine phosphatase
NM_001370508.1	NP_001357437.1	phosphoserine phosphatase
NM_001370509.1	NP_001357438.1	phosphoserine phosphatase
NM_001370510.1	NP_001357439.1	phosphoserine phosphatase
NM_001370511.1	NP_001357440.1	phosphoserine phosphatase
NM_001370512.1	NP_001357441.1	phosphoserine phosphatase
NM_001370513.1	NP_001357442.1	phosphoserine phosphatase
NM_001370514.1	NP_001357443.1	phosphoserine phosphatase
NM_001370515.1	NP_001357444.1	phosphoserine phosphatase
NM_001370516.1	NP_001357445.1	phosphoserine phosphatase
NM_001370517.1	NP_001357446.1	phosphoserine phosphatase
NM_001370518.1	NP_001357447.1	phosphoserine phosphatase
NM_001370519.1	NP_001357448.1	phosphoserine phosphatase
NM_001370520.1	NP_001357449.1	phosphoserine phosphatase
NM_001370521.1	NP_001357450.1	phosphoserine phosphatase
NM_001370522.1	NP_001357451.1	phosphoserine phosphatase
NM_004577.4	NP_004568.2	phosphoserine phosphatase

PSPH 蛋白结构

HAD

0
100
200
225 a.a.

蛋白主名

其他名称

phosphoserine phosphatase

L-3-phosphoserine phosphatase

PSPH 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
种属内	PSPH	P78330	RPS28	Homo sapiens	P62857	Anti Bait CoIP	17353931
种属内	PSPH	P78330	51492825	Homo sapiens	51492825	Anti Bait CoIP	17353931
种属内	PSPH	P78330	PSPH	Homo sapiens	P78330	Y2H Array	31515488
种属内	PSPH	P78330	CAP2	Homo sapiens	P40123	Anti Bait CoIP	17353931
种属内	PSPH	P78330	q65zq1_human	Homo sapiens	EBI-1054063	Anti Bait CoIP	17353931
种属内	PSPH	P78330	IGF2BP1	Homo sapiens	Q9NZI8	Anti Bait CoIP	17353931
种属内	PSPH	P78330	MOB1A	Homo sapiens	Q9H8S9	Anti Bait CoIP	17353931
种属内	PSPH	P78330	RPS9	Homo sapiens	P46781	Anti Bait CoIP	17353931
种属内	PSPH	P78330	CIRBP	Homo sapiens	Q14011	Anti Bait CoIP	17353931
种属内	PSPH	P78330	PSPH	Homo sapiens	P78330	Y2H Array	25416956
种属内	PSPH	P78330	PSPH	Homo sapiens	P78330	Y2H Array	25502805
种属内	PSPH	P78330	ERH	Homo sapiens	P84090	Anti Bait CoIP	17353931
种属内	PSPH	P78330	E7	Human papillomavirus	P06429	Y2H Pooling	22898364
种属内	PSPH	P78330	ASF1B	Homo sapiens	Q9NVP2	Anti Bait CoIP	17353931
种属内	PSPH	P78330	ATXN1	Homo sapiens	P54253	Y2H Prey Pooling	23275563
种属内	PSPH	P78330	PRPSAP1	Homo sapiens	Q14558	Anti Bait CoIP	17353931
种属内	PSPH	P78330	TXN	Homo sapiens	P10599	Anti Bait CoIP	17353931

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PSPH 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71241	PSP Protein, Human (His)	P78330 (M1-E225)	≥95%

关联疾病

疾病名称

别名

Phosphoserine Phosphatase Deficiency

PSPHD	Deficiency Of Phosphoserine Phosphatase
Psph Deficiency	3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Psph Deficiency, Infantile/Juvenile Form	Deficiency, Phosphoserine Phosphatase

Serine Deficiency

Lacrimal Gland Carcinoma

Lacrimal Gland Cancer	Carcinoma Of The Lacrimal Gland
Malignant Neoplasm Of Lacrimal Gland	Malignant Tumour Of Lacrimal Gland
Neoplasm Of Lacrimal Gland	Tumor Of The Lacrimal Gland
Malignant Tumor Of Lacrimal Gland

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency	3-Phosphoglycerate Dehydrogenase Deficiency
PHGDHD	3-Pgdh Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Phgdh Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoglycerate Dehydrogenase

Neu-Laxova Syndrome 1

Neu-Laxova Syndrome	NLS1
Nls	Neu Laxova Syndrome
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form

Lacrimal Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Lacrimal Gland

Lacrimal Gland Adenocarcinoma

Adenocarcinoma Of Lacrimal Gland

Ventriculomegaly With Cystic Kidney Disease

VMCKD	Cystic Kidney Disease With Ventriculomegaly
Ventriculomegaly-Cystic Kidney Disease	Ventriculomegaly - Cystic Kidney Disease
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome

Lacrimal System Cancer

Neoplasm Of Lacrimal System	Lacrimal System Neoplasm
Tumor Of The Lacrimal System

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency A	Molybdenum Cofactor Deficiency Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A	Mocod Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
Molybdenum Cofactor Deficiency Complementation Group A	Molybdenum Cofactor Deficiency, Type A
Deficiency, Molybdenum Cofactor, Complementation Group A

Neu-Laxova Syndrome 2

NLS2

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-160955	Z218484536	Inhibitor	/	否
HY-RS11341	PSPH Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS18046	Psph Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24520	Psph Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PSPH	VGNC	VGNC:45124
Felis catus	PSPH	VGNC	VGNC:80675
Mus musculus	PSPH	MGD	MGI:97788
Bos taurus	PSPH	VGNC	VGNC:33483
Rattus norvegicus	PSPH	RGD	RGD:1308764
Others	PSPH	NCBI

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