PSAT1

PSAT1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
3E77

Identifiers

Aliases

PSAT1, EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1

External IDs

OMIM: 610936; MGI: 2183441; HomoloGene: 6973; GeneCards: PSAT1; OMA:PSAT1 - orthologs

Gene location (Human)

Chr.	Chromosome 9 (human)^[1]

Band	9q21.2	Start	78,297,125 bp^[1]
Band	9q21.2	End	78,330,093 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19 A\|19 10.86 cM	Start	15,882,042 bp^[2]
Band	19 A\|19 10.86 cM	End	15,924,701 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

inferior ganglion of vagus nerve

corpus epididymis

subthalamic nucleus

external globus pallidus

superior vestibular nucleus

ganglionic eminence

amygdala

ventral tegmental area

caudate nucleus

nucleus accumbens

Top expressed in

utricle

condyle

seminal vesicula

substantia nigra

primitive streak

fossa

morula

Paneth cell

medial ganglionic eminence

ureter

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	transferase activity O-phospho-L-serine:2-oxoglutarate aminotransferase activity catalytic activity transaminase activity
Cellular component	extracellular exosome cytoplasm cytosol
Biological process	pyridoxine biosynthetic process cellular amino acid biosynthetic process L-serine biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


29968


107272

Ensembl


ENSG00000135069


ENSMUSG00000024640

UniProt


Q9Y617


Q99K85

RefSeq (mRNA)


NM_058179 NM_021154


NM_001205339 NM_177420

RefSeq (protein)


NP_066977 NP_478059


NP_001192268 NP_803155

Location (UCSC)

Chr 9: 78.3 – 78.33 Mb

Chr 19: 15.88 – 15.92 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.^[5]

The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms.^[5]

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Transcription

Clinical significance

Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome^[6] and phosphoserine aminotransferase deficiency.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000135069 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024640 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: phosphoserine aminotransferase 1". Retrieved 2011-08-30.
^ Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M (2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway". Am. J. Hum. Genet. 95 (3): 285–93. doi:10.1016/j.ajhg.2014.07.012. PMC 4157144. PMID 25152457.
^ Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E (2007). "Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway". Am. J. Hum. Genet. 80 (5): 931–7. doi:10.1086/517888. PMC 1852735. PMID 17436247.

External links

Overview of all the structural information available in the PDB for UniProt: Q9Y617 (Phosphoserine aminotransferase) at the PDBe-KB.

v t e Transferase: nitrogenous groups (EC 2.6)
2.6.1: Transaminases	Aspartate transaminase GOT1 GOT2 Alanine transaminase GABA transaminase Tyrosine aminotransferase Kynurenine—oxoglutarate transaminase Ornithine aminotransferase Branched-chain amino acid aminotransferase Alanine—glyoxylate transaminase AGXT
2.6.3: Oximinotransferases	Oximinotransferase
2.6.99: Other	Pyridoxine 5'-phosphate synthase

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 18 December 2023, at 07:05

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Clinical significance

See also

References

Further reading

External links