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AASS aminoadipate-semialdehyde synthase [ Homo sapiens (human) ]

Gene ID: 10157, updated on 5-Aug-2018

Summary

Official Symbol
AASSprovided by HGNC
Official Full Name
aminoadipate-semialdehyde synthaseprovided by HGNC
Primary source
HGNC:HGNC:17366
See related
Ensembl:ENSG00000008311 MIM:605113; Vega:OTTHUMG00000157058
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LKRSDH; LORSDH; LKR/SDH
Summary
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 13.5), liver (RPKM 12.5) and 24 other tissues See more
Orthologs

Genomic context

See AASS in Genome Data Viewer
Location:
7q31.32
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (122073544..122144290, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121713598..121784344, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 2 Neighboring gene protein tyrosine phosphatase, receptor type Z1 Neighboring gene RNA, U7 small nuclear 154 pseudogene Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene uncharacterized LOC102724527

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of aminoadipate-semialdehyde synthase (AASS) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
L-lysine catabolic process to acetyl-CoA via saccharopine IEA
Inferred from Electronic Annotation
more info
 
lysine biosynthetic process via aminoadipic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysine catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
lysine catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
protein tetramerization TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-aminoadipic semialdehyde synthase, mitochondrial
Names
alpha-aminoadipate semialdehyde synthase
aminoadipic semialdehyde synthase
lysine-2-oxoglutarate reductase
lysine-ketoglutarate reductase /saccharopine dehydrogenase
NP_005754.2
XP_011514027.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008140.2 RefSeqGene

    Range
    5001..75747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005763.3NP_005754.2  alpha-aminoadipic semialdehyde synthase, mitochondrial

    See identical proteins and their annotated locations for NP_005754.2

    Status: REVIEWED

    Source sequence(s)
    AC006020, AF229180, BM669241, DA995180
    Consensus CDS
    CCDS5783.1
    UniProtKB/Swiss-Prot
    Q9UDR5
    UniProtKB/TrEMBL
    A4D0W4
    Related
    ENSP00000403768.2, OTTHUMP00000211399, ENST00000417368.6, OTTHUMT00000347298
    Conserved Domains (4) summary
    PLN02819
    Location:25916
    PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase
    cd12189
    Location:25466
    LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme
    pfam03435
    Location:483598
    Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain
    pfam16653
    Location:602915
    Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    122073544..122144290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515725.2XP_011514027.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

    Related
    ENSP00000351834.2, OTTHUMP00000211402, ENST00000358954.6, OTTHUMT00000347303
    Conserved Domains (4) summary
    PLN02819
    Location:25884
    PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase
    cd12189
    Location:25466
    LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme
    pfam03435
    Location:483598
    Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain
    pfam16653
    Location:602883
    Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

RNA

  1. XR_001744523.1 RNA Sequence

  2. XR_001744519.1 RNA Sequence

  3. XR_001744524.1 RNA Sequence

  4. XR_001744520.1 RNA Sequence

  5. XR_001744521.1 RNA Sequence

  6. XR_001744522.1 RNA Sequence

  7. XR_001744514.1 RNA Sequence

  8. XR_001744515.1 RNA Sequence

  9. XR_242220.3 RNA Sequence

  10. XR_927326.2 RNA Sequence

  11. XR_001744516.1 RNA Sequence

  12. XR_001744517.1 RNA Sequence

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