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PSAT1 phosphoserine aminotransferase 1 [ Homo sapiens (human) ]

Gene ID: 29968, updated on 16-Apr-2024

Summary

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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
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Genomic context

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Location:
9q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (78297125..78330093)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (90454269..90487311)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (80912041..80945009)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cyclin-dependent kinases regulatory subunit 2-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:80850720-80851389 Neighboring gene centrosomal protein 78 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:80903091-80903592 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:80911287-80911870 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:80911871-80912454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:80965189-80965688 Neighboring gene uncharacterized LOC107987083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28488 Neighboring gene NANOG hESC enhancer GRCh37_chr9:81008146-81008712 Neighboring gene VISTA enhancer hs1530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:81024941-81025440 Neighboring gene VISTA enhancer hs1585 Neighboring gene NANOG hESC enhancer GRCh37_chr9:81117468-81117969 Neighboring gene MT-CO1 pseudogene 50

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Downregulation of PSAT1 inhibits cell proliferation and migration in uterine corpus endometrial carcinoma. Wang M, et al. Sci Rep, 2023 Mar 11. PMID 36906716, Free PMC Article
  2. L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase. Marchesani F, et al. Protein Sci, 2023 Apr. PMID 36851825, Free PMC Article
  3. Lineage-specific silencing of PSAT1 induces serine auxotrophy and sensitivity to dietary serine starvation in luminal breast tumors. Choi BH, et al. Cell Rep, 2022 Jan 18. PMID 35045283, Free PMC Article
  4. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Debs S, et al. Am J Med Genet A, 2021 Jul. PMID 34089226, Free PMC Article
  5. Phosphoserine Aminotransferase has Conserved Active Site from Microbes to Higher Eukaryotes with Minor Deviations. Singh RK, et al. Protein Pept Lett, 2021. PMID 33588715

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
    Title: Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
  5. 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.
  6. 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.
  7. 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.
  8. Downregulation of PSAT1 inhibits cell proliferation and migration in uterine corpus endometrial carcinoma.
    Title: Downregulation of PSAT1 inhibits cell proliferation and migration in uterine corpus endometrial carcinoma.
  9. Targeting PSAT1 to mitigate metastasis in tumors with p53-72Pro variant.
    Title: Targeting PSAT1 to mitigate metastasis in tumors with p53-72Pro variant.
  10. miRNA-195-5p/PSAT1 feedback loop in human triple-negative breast cancer cells.
    Title: miRNA-195-5p/PSAT1 feedback loop in human triple-negative breast cancer cells.
Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
Compare labs
PSAT deficiency
MedGen: C1970253 OMIM: 610992 GeneReviews: Serine Deficiency Disorders
Compare labs

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • MGC1460

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 PubMed 

General protein information

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Preferred Names
phosphoserine aminotransferase
Names
endometrial progesterone-induced protein
phosphohydroxythreonine aminotransferase
phosphoserine transaminase
NP_066977.1
NP_478059.1

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

  1. NG_012165.1 RefSeqGene

    Range
    4983..37951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

  2. 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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    78297125..78330093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    90454269..90487311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y617.2 GenPept UniProtKB/Swiss-Prot:Q9Y617

Gene LinkOut

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