Aass aminoadipate-semialdehyde synthase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Aassprovided by RGD
Official Full Name: aminoadipate-semialdehyde synthaseprovided by RGD
Primary source: RGD:1310811
See related: EnsemblRapid:ENSRNOG00000039494 AllianceGenome:RGD:1310811
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity and saccharopine dehydrogenase (NADP+, L-lysine-forming) activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid and lysine catabolic process. Predicted to act upstream of or within L-lysine catabolic process. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in hyperlysinemia. Orthologous to human AASS (aminoadipate-semialdehyde synthase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 1136.0) and Liver (RPKM 851.7) See more
Orthologs: human mouse all
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Genomic context

Location:: 4q22

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	4	NC_086022.1 (52572146..52628811, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	4	NC_051339.1 (51606461..51663136, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	4	NC_005103.4 (50152005..50208935, complement)

Chromosome 4 - NC_086022.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IEA Inferred from Electronic Annotation more info
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	ISO Inferred from Sequence Orthology more info
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	ISS Inferred from Sequence or Structural Similarity more info
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IEA Inferred from Electronic Annotation more info
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ISO Inferred from Sequence Orthology more info
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
involved_in L-lysine catabolic process to acetyl-CoA via saccharopine	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
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
involved_in lysine catabolic process	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-aminoadipic semialdehyde synthase, mitochondrial

Names: LKR/SDH

NP_001094433.1

EC 1.5.1.8

EC 1.5.1.9

XP_038963199.1

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_001100963.1 → NP_001094433.1 alpha-aminoadipic semialdehyde synthase, mitochondrial precursor

See identical proteins and their annotated locations for NP_001094433.1

Status: PROVISIONAL

Source sequence(s)

BC128771

UniProtKB/Swiss-Prot

A2VCW9

UniProtKB/TrEMBL

D4ACE9

Related

ENSRNOP00000082580.2, ENSRNOT00000103498.2

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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086022.1 Reference GRCr8

Range

52572146..52628811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039107271.2 → XP_038963199.1 alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A8I5ZV58, D4ACE9

Conserved Domains (2) 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