PSAT1 - phosphoserine aminotransferase 1 Gene

Also Known as PSA; EPIP; NLS2; PSAT; PSATD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29968

About PSAT1

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:78,297,125-78,330,093 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in brain (RPKM 69.9), liver (RPKM 61.3) and 13 other tissues.

Summary

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]

PSAT1 Products (2)

mRNA Protein Name
NM_021154.5 NP_066977.1 phosphoserine aminotransferase isoform 2
NM_058179.4 NP_478059.1 phosphoserine aminotransferase isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables O-phospho-L-serine:2-oxoglutarate aminotransferase activity IDA
IDA: Inferred from direct assay
37627284 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence References Source
involved in L-serine biosynthetic process IDA
IDA: Inferred from direct assay
37627284 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

PSAT1 Protein Structure

Aminotran_5

Aminotran_5: Aminotransferase class-V (7 - 357)

  • 0
  • 100
  • 200
  • 300
  • 370 a.a.
Protein Preferred Names Protein Names

phosphoserine aminotransferase

  • endometrial progesterone-induced protein

PSAT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PSAT1 Q9Y617 NEK7 Homo sapiens Q8TDX7
Validated Y2H
32814053
Intra
PSAT1 Q9Y617 NEK7 Homo sapiens Q8TDX7
Y2H Array
32814053
Intra
PSAT1 Q9Y617 NEK7 Homo sapiens Q8TDX7
Y2H Pooling
32814053
Intra
PSAT1 Q9Y617 PSAT1 Homo sapiens Q9Y617
Y2H Prey Pooling
32296183
Intra
PSAT1 Q9Y617 PSAT1 Homo sapiens Q9Y617
Validated Y2H
32296183
Intra
PSAT1 Q9Y617 MPRIP Homo sapiens Q6WCQ1-2
Anti Tag CoIP
28514442
Intra
PSAT1 Q9Y617 CDH1 Homo sapiens P12830
Validated Y2H
32814053
Intra
PSAT1 Q9Y617 PSAT1 Homo sapiens Q9Y617
Y2H Array
32296183
Intra
PSAT1 Q9Y617 CDH1 Homo sapiens P12830
Y2H Array
32814053
Intra
PSAT1 Q9Y617 CDH1 Homo sapiens P12830
Y2H Pooling
32814053
Intra
PSAT1 Q9Y617 MAPK6 Homo sapiens Q16659
Y2H
21900206
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PSAT1 Proteins

Cat. No. Product Name Accession Purity
HY-P78999 PSAT1 Protein, Human (His) Q9Y617-1 (M1-L370) ≥ 95%, as determined by reducing SDS-PAGE.

PSAT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P87041 Phosphoserine aminotransferase Antibody (YA6734) WB, IHC-P, FC, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Phosphoserine Aminotransferase Deficiency

  • Psat Deficiency

  • PSATD

  • Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

  • Psat Deficiency, Infantile/Juvenile Form

  • Deficiency, Phosphoserine Aminotransferase
Neu-Laxova Syndrome 2

  • NLS2
Neu-Laxova Syndrome Due To Phosphoserine Aminotransferase Deficiency

  • Phosphoserine Aminotransferase Deficiency, Prenatal Form
Serine Deficiency
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
Ectropion

  • Ectropion Of Eyelid

  • Everted Margin

  • Eversion Of The Eyelid

  • Eyelashes Turned Out

  • Eyelid Everted

  • Eyelid Turned Out

  • Unspecified Ectropion Of Unspecified Eye
Neu-Laxova Syndrome 1

  • Neu-Laxova Syndrome

  • NLS1

  • Nls

  • Neu Laxova Syndrome

  • 3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form
Prostatic Cyst

  • Cyst Of Prostate
Prostate Cancer

  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer
Granulomatous Amebic Encephalitis

  • Granulomatous Amoebic Encephalitis

  • Acanthamoeba Encephalitis

  • Acanthamoeba Granulomatous Encephalitis

  • Granulomatous Amebic Encephalitis Due To Acanthamoeba
Primary Amebic Meningoencephalitis

  • Pam

  • Naegleria Fowleri Infection

  • Meningoencephalitis Caused By Naegleria Fowleri

  • Primary Amoebic Meningoencephalitis
Ichthyosis

  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

  • Asphyxiating Thoracic Dystrophy 2

  • SRTD2

  • Atd2

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 2
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11270 PSAT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17842 Psat1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24310 Psat1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PSAT1 RGD RGD:735170
Mus musculus PSAT1 MGD MGI:2183441
Felis catus PSAT1 VGNC VGNC:64409
Macaca mulatta PSAT1 VGNC VGNC:109571
Bos taurus PSAT1 VGNC VGNC:55075
Canis familiaris PSAT1 VGNC VGNC:45081
Others PSAT1 NCBI