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Protein Coding Gene : Psat1 phosphoserine aminotransferase 1

Primary Identifier  MGI:2183441 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  107272
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable O-phospho-L-serine:2-oxoglutarate aminotransferase activity; identical protein binding activity; and pyridoxal phosphate binding activity. Predicted to be involved in L-serine biosynthetic process. Predicted to act upstream of or within amino acid biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Neu-Laxova syndrome 2 and PSAT deficiency. Orthologous to human PSAT1 (phosphoserine aminotransferase 1).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation. [provided by MGI curators]
  • synonyms:
  • MGI:1289292,
  • expressed sequence AL024078,
  • EPIP,
  • AL024078,
  • AU040266,
  • MGI:2147656,
  • MGI:3034454,
  • MGI:2147628,
  • D8Ertd814e,
  • Psat1,
  • DNA segment, Chr 8, ERATO Doi 814, expressed,
  • phosphoserine aminotransferase 1,
  • expressed sequence AL024083,
  • expressed sequence AU040266,
  • AL024083,
  • PSA

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

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Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

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