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FLASH GENE

Symbol

PSAT1

contributors: mct - updated : 07-10-2014

HGNC name	phosphoserine aminotransferase 1
HGNC id	19129

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NELAS2 Neu-Laxova syndrome 2 PSATD phosphoserine aminotransferase deficiency
Location	9q21.31      Physical location : 80.912.058 - 80.945.007
Synonym name	endometrial progesterone-induced protein
Synonym symbol(s)	PSA, EPIP, PSAT, MGC1460
EC.number	2.6.1.52

DNA

TYPE	functioning gene
STRUCTURE	32.95 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_058179 9 splicing 2221 NP_478059 40 370 - 2003 12633500 also called HsPSAT beta 9 exons is the functional protein required for the phosphorylated pathway NM_021154 8 splicing 2083 NP_066977 35 324 - 2003 12633500 also called HsPSAT alpha lacks exon 8 but the reading frame is maintained

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea   highly Homo sapiens Lymphoid/Immune spleen       highly Homo sapiens Nervous brain       highly Homo sapiens   nerve cranial nerve     highly Homo sapiens Reproductive male system testis     lowly Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage
cell lines	highly in leukemia Jurkat, colon adenocarcinoma COLO2 320DM, hepatocellular carcinoma HepG2, weakly in leukemia MOLT3
fluid/secretion

at STAGE

cell cycle

cell cycle, S

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

besides a small C-terminal domain, each subunit contains a large pyridoxal 5¡ä-phosphate (PLP) binding domain implicated in the protein¨Cprotein interactions between the subunit

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine PSAT1
	homolog to rattus LOC293820

Homologene

FAMILY

class V pyridoxal phosphate dependent aminotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzes the transamination of 3-phosphohydroxypyruvate to 3-phosphoserine with glutamate as amino donor
	required in pathways of serine and pyridoxine biosynthesis
	enzyme playing a role in the L-serine biosynthesis which could be implicated in colon cancer progression and chemoresistance
	can transaminate glyoxylate with good efficiency, using L-glutamate as the best amino-group donor
	promoted cell cycle progression, cell proliferation and tumorigenesis
	enzyme for the second step in L-serine biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

three-enzyme serine biosynthesis pathway

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal phosphate

protein

PRKCZ represses the expression of PHGDH and PSAT1, and phosphorylates PHGDH at key residues to inhibit its enzymatic activity

cell & other

REGULATION

Other

expression of mRNA is up-regulated during S phase

ASSOCIATED DISORDERS

corresponding disease(s)

PSATD , NELAS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in colon tumors tumoral     --over   in non-small cell lung cancer (NSCLC) and was involved in the regulation of E2F activity

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	represents a new interesting target for colorectal cancer therapy

ANIMAL & CELL MODELS