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    PSAT1 phosphoserine aminotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 29968, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See PSAT1 in Genome Data Viewer
    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_000009.12Genomic 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 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. PSAT1 is upregulated by METTL3 to attenuate high glucose-induced retinal pigment epithelial cell apoptosis and oxidative stress. Du X, et al. Diagn Pathol, 2024 Oct 15. PMID 39407268, Free PMC Article
    2. 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
    3. Phosphoserine Aminotransferase has Conserved Active Site from Microbes to Higher Eukaryotes with Minor Deviations. Singh RK, et al. Protein Pept Lett, 2021. PMID 33588715
    4. PSAT1 Upregulation Contributes to Cell Growth and Cisplatin Resistance in Cervical Cancer Cells via Regulating PI3K/AKT Signaling Pathway. Duan W, et al. Ann Clin Lab Sci, 2020 Jul. PMID 32826249
    5. 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

    See all (121) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
      Title: Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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