PSPH - phosphoserine phosphatase Gene

Homo sapiens

Also known as PSP; PSPHD

Gene ID: 5723 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

HAD

0
100
200
225 a.a.

Protein Preferred Names

Protein Names

phosphoserine phosphatase

L-3-phosphoserine phosphatase

Recombinant PSPH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71241	PSP Protein, Human (His)	P78330 (M1-E225)	≥95%

Related Diseases

Diseases

Alias

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11341	PSPH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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