AASS

GENERAL INFORMATION

? »

Gene name

AASS

Gene description

Aminoadipate-semialdehyde synthase

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression, most abundant in hepatocytes.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA020637 , HPA020728 , HPA020734
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 78.38)

Entrez gene

10157

UniProt

Q9UDR5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UDR5

Antibodypedia

AASS antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000393376
 
ENST00000417368
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AASS-001 ENSP00000403768
ENST00000417368
Q9UDR5
Show all »
Show » Show » 926 102.1 No 0
AASS-003 ENSP00000377040
ENST00000393376
Q9UDR5
Show all »
Show » Show » 926 102.1 No 0