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ALAS1 aminolevulinate, delta-, synthase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol ALAS1
Entrez Gene ID 211
Full Name aminolevulinate, delta-, synthase 1
Synonyms ALAS, ALAS3, ALASH, MIG4
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p21.1

Summary This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011].
Disorder

MIM: 125290

mRNA Protein Product Sequence Price Select
NM_000688, 362999011 NP_000679, 4502025 5-aminolevulinate synthase, nonspecific, mitochondrial precursor ORF Sequence $700.00
NM_199166, 362999012 NP_954635, 40316939 5-aminolevulinate synthase, nonspecific, mitochondrial precursor ORF Sequence $700.00
KEGG
hsa00260Glycine, serine and threonine metabolism
hsa00860Porphyrin and chlorophyll metabolism
WikiPathways
WP561Heme Biosynthesis
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
BIOCYC
HUMAN_PWY-5189tetrapyrrole biosynthesis II
HUMAN_PWY-5920heme biosynthesis II
Reactome
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_19241Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_9465Heme biosynthesis
REACT_116145PPARA Activates Gene Expression
REACT_9431Metabolism of porphyrins
Homo sapiens (human)ALAS1NP_000679.1
Pan troglodytes (chimpanzee)ALAS1XP_001171508.2
Macaca mulatta (Rhesus monkey)ALAS1XP_001090440.2
Canis lupus familiaris (dog)ALAS1XP_533804.2
Bos taurus (cattle)ALAS1NP_001094624.1
Mus musculus (house mouse)Alas1NP_065584.2
Gallus gallus (chicken)ALAS1NP_001018012.1
Danio rerio (zebrafish)alas1NP_958444.1
GeneCards ALAS1
UniProt P13196, Q5JAM2
MIM 125290
Ensembl ENSG00000023330
HGNC 396
HPRD 00505

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Interactant



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