Psat1 MGI Mouse Gene Detail - MGI:2183441 - phosphoserine aminotransferase 1

Symbol

Psat1
Name

phosphoserine aminotransferase 1
Synonyms

D8Ertd814e, EPIP, PSA

Feature Type

protein coding gene
IDs

MGI:2183441
NCBI Gene: 107272
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr19:15882487-15902423 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 10.86 cM
Mapping Data

2 experiments

SNPs within 2kb

794 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2183441	protein coding gene	Chr19:15882042-15924701 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024956	protein coding gene	Chr19:13603466-13648919 (-)
A/J	MGP_AJ_G0024933	protein coding gene	Chr19:12810393-12856961 (-)
AKR/J	MGP_AKRJ_G0024903	protein coding gene	Chr19:13348662-13397423 (-)
BALB/cJ	MGP_BALBcJ_G0024932	protein coding gene	Chr19:12855123-12899160 (-)
C3H/HeJ	MGP_C3HHeJ_G0024690	protein coding gene	Chr19:13291118-13337212 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025374	protein coding gene	Chr19:14169427-14211761 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022793	protein coding gene	Chr19:13277988-13320014 (-)
CAST/EiJ	MGP_CASTEiJ_G0024158	protein coding gene	Chr19:12862685-12908691 (-)
CBA/J	MGP_CBAJ_G0024668	protein coding gene	Chr19:14573217-14624246 (-)
DBA/2J	MGP_DBA2J_G0024800	protein coding gene	Chr19:12861598-12904329 (-)
FVB/NJ	MGP_FVBNJ_G0024761	protein coding gene	Chr19:12787197-12833229 (-)
LP/J	MGP_LPJ_G0024884	protein coding gene	Chr19:13604345-13646742 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024788	protein coding gene	Chr19:14540109-14589214 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025429	protein coding gene	Chr19:13264737-13311752 (-)
PWK/PhJ	MGP_PWKPhJ_G0023907	protein coding gene	Chr19:12397441-12438417 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023712	protein coding gene	Chr19:12550068-12601865 (-)
WSB/EiJ	MGP_WSBEiJ_G0024226	protein coding gene	Chr19:13284859-13330309 (-)

Human Ortholog

PSAT1, phosphoserine aminotransferase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PSAT1, phosphoserine aminotransferase 1
Synonyms

EPIP, NLS2, PSA, PSAT, PSATD
Links

HGNC:19129

NCBI Gene ID: 29968

neXtProt AC: NX_Q9Y617

UniProt: Q9Y617
Chr Location

9q21.2; chr9:78297125-78330093 (+) GRCh38

MGI Vertebrate Homology

Psat1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PSAT1
Protein SuperFamily

SerC
Gene Tree

Psat1

Diseases

2 with human PSAT1 associations

				Human Disease	Mouse Models
				Neu-Laxova syndrome 2 IDs Neu-Laxova syndrome 2 DOID:0080075 OMIM:616038
				PSAT deficiency IDs PSAT deficiency DOID:0050723 OMIM:610992

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 1 allele in 2 genetic backgrounds
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

5
Gene trapped

3
Targeted

4
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation.

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All GO Annotations

12
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

920
Tissues

117
cDNA Data

28
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase psat1

ZFIN psat1

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All Sequences

80
RefSeq

5
UniProt

7
CCDS

CCDS29681.1, CCDS57139.1

Ensembl

ENSMUSG00000024640 (Evidence)
NCBI Gene

107272

			Length	Strain/Species	Flank
genomic	107272	NCBI Gene Model \| MGI Sequence Detail	19937	C57BL/6J	± kb
transcript	NM_001205339	RefSeq \| MGI Sequence Detail	2295	ZRU/MplStud
polypeptide	Q99K85	UniProt \| EBI \| MGI Sequence Detail	370	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000013339 phosphoserine aminotransferase

(term hierarchy)
EC

2.6.1.52
InterPro Domains

IPR000192 Aminotransferase class V domain

IPR020578 Aminotransferase class-V, pyridoxal-phosphate binding site

IPR022278 Phosphoserine aminotransferase

IPR015424 Pyridoxal phosphate-dependent transferase

IPR015421 Pyridoxal phosphate-dependent transferase, major domain

IPR015422 Pyridoxal phosphate-dependent transferase, small domain

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All nucleic 32

cDNA 28

Primer pair 4

Microarray probesets 4

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MGI:1289292, MGI:2147628, MGI:2147656, MGI:3034454

Summaries

All 57

Developmental Gene Expression 14

Gene Ontology 4

Phenotypes 15
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75

TSS for Psat1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr158472	Chr19:15902292-15902379 (-)	87 bp
Tssr158471	Chr19:15901924-15901933 (-)	494 bp
Tssr158470	Chr19:15897543-15897546 (-)	4,878 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24