PSAT1 phosphoserine aminotransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSAT1provided by HGNC
Official Full Name: phosphoserine aminotransferase 1provided by HGNC
Primary source: HGNC:HGNC:19129
See related: Ensembl:ENSG00000135069 MIM:610936; AllianceGenome:HGNC:19129
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSA; EPIP; NLS2; PSAT; PSATD
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]
Expression: Biased expression in brain (RPKM 69.9), liver (RPKM 61.3) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (78297125..78330093)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (90454269..90487311)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (80912041..80945009)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interplay between acetylation and ubiquitination controls PSAT1 protein stability in lung adenocarcinoma.
Title: Interplay between acetylation and ubiquitination controls PSAT1 protein stability in lung adenocarcinoma.
PSAT1 is upregulated by METTL3 to attenuate high glucose-induced retinal pigment epithelial cell apoptosis and oxidative stress.
Title: PSAT1 is upregulated by METTL3 to attenuate high glucose-induced retinal pigment epithelial cell apoptosis and oxidative stress.
PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell.
Title: PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell.
Upregulation of serine metabolism enzyme PSAT1 predicts poor prognosis and promotes proliferation, metastasis and drug resistance of clear cell renal cell carcinoma.
Title: Upregulation of serine metabolism enzyme PSAT1 predicts poor prognosis and promotes proliferation, metastasis and drug resistance of clear cell renal cell carcinoma.
PSAT1 promotes autophagy to resist insufficient autophagy caused by cigarette smoke extract in human airway epithelial cells.
Title: PSAT1 promotes autophagy to resist insufficient autophagy caused by cigarette smoke extract in human airway epithelial cells.
Overexpression of PSAT1 is Correlated with Poor Prognosis and Immune Infiltration in Non-Small Cell Lung Cancer.
Title: Overexpression of PSAT1 is Correlated with Poor Prognosis and Immune Infiltration in Non-Small Cell Lung Cancer.
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Title: Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis.
Title: Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis.
Exosomal ERBB2IP contributes to tumor growth via elevating PSAT1 expression in non-small cell lung carcinoma.
Title: Exosomal ERBB2IP contributes to tumor growth via elevating PSAT1 expression in non-small cell lung carcinoma.
L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase.
Title: L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neu-Laxova syndrome 2 MedGen: C4015019 OMIM: 616038 GeneReviews: Serine Deficiency Disorders	not available
PSAT deficiency MedGen: C1970253 OMIM: 610992 GeneReviews: Serine Deficiency Disorders	not available

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with phosphoserine aminotransferase 1 (PSAT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of phosphoserine aminotransferase 1 (PSAT1) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66846 (e-PCR)
- UniSTS:92170

G19639 (e-PCR)
- UniSTS:76575

RH66326 (e-PCR)
- UniSTS:91809

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables O-phospho-L-serine:2-oxoglutarate aminotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables O-phospho-L-serine:2-oxoglutarate aminotransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyridoxal phosphate binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in L-serine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-serine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in L-serine biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in pyridoxine biosynthetic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: phosphoserine aminotransferase

Names: endometrial progesterone-induced protein; phosphohydroxythreonine aminotransferase; phosphoserine transaminase

NP_066977.1

EC 2.6.1.52

NP_478059.1

EC 2.6.1.52

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012165.1 RefSeqGene

Range

4983..37951

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021154.5 → NP_066977.1 phosphoserine aminotransferase isoform 2

See identical proteins and their annotated locations for NP_066977.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as PSAT alpha) is shorter, compared to isoform 1.

Source sequence(s)

BC004863, DC332195

Consensus CDS

CCDS6659.1

Related

ENSP00000317606.2, ENST00000347159.6

Conserved Domains (1) summary

cd00611
Location:8 → 320

PSAT_like; Phosphoserine aminotransferase (PSAT) family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major group in this CD corresponds to phosphoserine aminotransferase (PSAT). PSAT is active as ...
NM_058179.4 → NP_478059.1 phosphoserine aminotransferase isoform 1

See identical proteins and their annotated locations for NP_478059.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as PSAT beta).

Source sequence(s)

BC004863, DC332195

Consensus CDS

CCDS6660.1

UniProtKB/Swiss-Prot

Q5T7G5, Q5T7G6, Q96AW2, Q9BQ12, Q9Y617

UniProtKB/TrEMBL

B4DHQ3

Related

ENSP00000365773.3, ENST00000376588.4

Conserved Domains (1) summary

cd00611
Location:8 → 366

PSAT_like; Phosphoserine aminotransferase (PSAT) family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major group in this CD corresponds to phosphoserine aminotransferase (PSAT). PSAT is active as ...