PSAT1 - phosphoserine aminotransferase 1 Gene

Homo sapiens

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

Gene ID: 29968 | Gene type: protein coding

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

PSAT1 Protein Structure

Aminotran_5

0
100
200
300
370 a.a.

Protein Preferred Names

Protein Names

phosphoserine aminotransferase

endometrial progesterone-induced protein

Recombinant PSAT1 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11270	PSAT1 Human Pre-designed siRNA Set A		/	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

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