1. Gene
  2. PSPH - phosphoserine phosphatase Gene

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

HAD: haloacid dehalogenase-like hydrolase (17 - 186)

  • 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

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