Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ALAS1

contributors: mct - updated : 05-05-2012

HGNC name	aminolevulinate, delta-, synthase 1
HGNC id	396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	16.23 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   HRE
text structure	NR1H4 response element was identified in the 5 prime flanking region of ALAS1

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two mRNAs with different 5'-UTRs

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000688 12 - 2407 NP_000679 70.6 640 - 2008 18719978 exon 1B is omitted NM_199166 11 - 2258 NP_954635 - 640 - 2008 18719978 resistant to haem-mediated decay containing exon 1B translation might be required for destabilisation in response to haem

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly   liver         Endocrine adrenal gland       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

class-II pyridoxal-phosphate-dependent aminotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	synthesized on the rough endoplasmic reticulum and subsequently transferred across the outer and inner membranes of mitochondria, a process requiring additional processing by peptidases and protection by chaperones for proper folding

basic FUNCTION	catalyzing the first step of porphyrin biosynthesis, pyridoxal dependent
	rate-limiting enzyme in heme synthesis in the liver and is highly regulated to adapt to the metabolic demand of the hepatocyte (
	first rate controlling enzyme that controls cellular heme biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

porphyrin/heme

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal phosphate

protein	interacting with STAMBP
	direct target of the bile acid-activated nuclear receptor farnesoid X receptor (NR1H4)
	hepatic ALAS1 is a new direct target for the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARA)
	interacting with LONP1 (a nuclearly encoded and mitochondrially located stress-responsive protease, that is involved in heme-mediated ALAS1 turnover)

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS