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PSAT1 phosphoserine aminotransferase 1 [ Homo sapiens (human) ]

Gene ID: 29968, updated on 5-Jul-2020

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
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

Genomic context

See PSAT1 in Genome Data Viewer
Location:
9q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (78297125..78330093)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (80911991..80945009)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cyclin-dependent kinases regulatory subunit 2 pseudogene Neighboring gene centrosomal protein 78 Neighboring gene uncharacterized LOC107987083 Neighboring gene VISTA enhancer hs1530 Neighboring gene VISTA enhancer hs1585

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neu-laxova syndrome 2
MedGen: C4015019 OMIM: 616038 GeneReviews: Not available
Compare labs
Phosphoserine aminotransferase deficiency
MedGen: C1970253 OMIM: 610992 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1460

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-phospho-L-serine:2-oxoglutarate aminotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
O-phospho-L-serine:2-oxoglutarate aminotransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
L-serine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-serine biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
L-serine biosynthetic process TAS
Traceable Author Statement
more info
 
pyridoxine biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_021154.5NP_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
    UniProtKB/Swiss-Prot
    Q9Y617
    UniProtKB/TrEMBL
    A0A024R280
    Related
    ENSP00000317606.2, ENST00000347159.6
    Conserved Domains (1) summary
    cd00611
    Location:8320
    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_058179.4NP_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
    Q9Y617
    UniProtKB/TrEMBL
    A0A024R222
    Related
    ENSP00000365773.3, ENST00000376588.4
    Conserved Domains (1) summary
    cd00611
    Location:8366
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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