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AASS

GENERAL INFORMATION

Gene name

 AASS

Gene description

 Aminoadipate-semialdehyde synthase

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression, most abundant in hepatocytes.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA020637 , HPA020728 , HPA020734
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 AASS (HGNC Symbol)

Synonyms

 LKRSDH, LORSDH

Description

 Aminoadipate-semialdehyde synthase (HGNC Symbol)

Entrez gene 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]

Chromosome

 7

Cytoband

 q31.32

Chromosome location (bp)

 122075647 - 122144280

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000008311 (version 83.38)

Entrez gene

 10157

UniProt

 Q9UDR5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UDR5

Antibodypedia

 AASS antibodies

PROTEIN BROWSER
AASS-001
AASS-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AASS-001
ENSP00000403768
ENST00000417368
Q9UDR5 [Direct mapping]
Alpha-aminoadipic semialdehyde synthase, mitochondrial Lysine ketoglutarate reductase Saccharopine dehydrogenase
A4D0W4 [Target identity:100%; Query identity:100%]
Aminoadipate-semialdehyde synthase; Aminoadipate-semialdehyde synthase, isoform CRA_a
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006554 [lysine catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0033512 [L-lysine catabolic process to acetyl-CoA via saccharopine]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044281 [small molecule metabolic process]
GO:0047130 [saccharopine dehydrogenase (NADP+, L-lysine-forming) activity]
GO:0047131 [saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity]
GO:0051262 [protein tetramerization]
GO:0055114 [oxidation-reduction process]
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 926 aa
102.1 kDa 		No 0
AASS-003
ENSP00000377040
ENST00000393376
Q9UDR5 [Direct mapping]
Alpha-aminoadipic semialdehyde synthase, mitochondrial Lysine ketoglutarate reductase Saccharopine dehydrogenase
A4D0W4 [Target identity:100%; Query identity:100%]
Aminoadipate-semialdehyde synthase; Aminoadipate-semialdehyde synthase, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006554 [lysine catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0019477 [L-lysine catabolic process]
GO:0033512 [L-lysine catabolic process to acetyl-CoA via saccharopine]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044281 [small molecule metabolic process]
GO:0047130 [saccharopine dehydrogenase (NADP+, L-lysine-forming) activity]
GO:0047131 [saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity]
GO:0051262 [protein tetramerization]
GO:0055114 [oxidation-reduction process]
Show all
 926 aa
102.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.