Aass aminoadipate-semialdehyde synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aassprovided by MGI
Official Full Name: aminoadipate-semialdehyde synthaseprovided by MGI
Primary source: MGI:MGI:1353573
See related: Ensembl:ENSMUSG00000029695 AllianceGenome:MGI:1353573
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LKR; LOR; SDH; Lorsdh; LKR/SDH; LOR/SDH
Summary: This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in kidney adult (RPKM 40.6), liver adult (RPKM 30.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.1; 6 10.27 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (23072172..23132985, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (23072173..23132986, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice receiving the high-protein diet had greater AASS mRNA compared to mice fed the adequate protein diet.
Title: Protein-induced alterations in murine hepatic alpha-aminoadipate delta-semialdehyde synthase activity are mediated posttranslationally.
These results indicate AASS knockdown decreases the lysine requirement of the cell via a reduction of lysine catabolism through the saccharopine pathway.
Title: Alpha-aminoadipate delta-semialdehyde synthase mRNA knockdown reduces the lysine requirement of a mouse hepatic cell line.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aass (e-PCR), detects polymorphism
- UniSTS:546607

AJ224761 (e-PCR)
- UniSTS:163382

Aass (e-PCR), detects polymorphism
- UniSTS:507985

D6Mit204 (e-PCR), detects polymorphism
- UniSTS:116590

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IDA Inferred from Direct Assay more info	PubMed
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	ISO Inferred from Sequence Orthology more info
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IDA Inferred from Direct Assay more info	PubMed
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ISO Inferred from Sequence Orthology more info
enables saccharopine dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within L-lysine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in lysine biosynthetic process via aminoadipic acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysine catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-aminoadipic semialdehyde synthase, mitochondrial

Names: lysine oxoglutarate reductase; saccharopine dehydrogenase

NP_038958.2

EC 1.5.1.8

EC 1.5.1.9

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_013930.4 → NP_038958.2 alpha-aminoadipic semialdehyde synthase, mitochondrial

See identical proteins and their annotated locations for NP_038958.2

Status: REVIEWED

Source sequence(s)

AC133599, AK149400, CJ074697

Consensus CDS

CCDS19937.1

UniProtKB/Swiss-Prot

Q99K67, Q9Z1I9

UniProtKB/TrEMBL

Q3UEQ9, Q3UWN2

Related

ENSMUSP00000031707.8, ENSMUST00000031707.14

Conserved Domains (4) summary

PLN02819
Location:25 → 916

PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase

cd12189
Location:25 → 466

LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme

pfam03435
Location:483 → 598

Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain

pfam16653
Location:602 → 915

Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain