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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), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005264944 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005264945 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol ALAS1
Entrez Gene ID 211
Full Name aminolevulinate, delta-, synthase 1
Synonyms ALAS, ALAS3, ALASH, MIG4
General protein information
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
XM_005264944, 578805771 XP_005265001, 530372051 5-aminolevulinate synthase, nonspecific, mitochondrial isoform X1 ORF Sequence $700.00
XM_005264945, 530372052 XP_005265002, 530372053 5-aminolevulinate synthase, nonspecific, mitochondrial isoform X2 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
META_PWY-5189tetrapyrrole biosynthesis II (from glycine)
META_PWY-5920superpathway of heme biosynthesis from glycine
HUMAN_PWY-5189tetrapyrrole biosynthesis II
HUMAN_PWY-5920heme biosynthesis II
Reactome
REACT_19241Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
REACT_9431Metabolism of porphyrins
REACT_9465Heme biosynthesis
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116145PPARA activates gene expression
REACT_200751Organelle biogenesis and maintenance
REACT_200608Transcriptional activation of mitochondrial biogenesis
REACT_200788Mitochondrial biogenesis
Homo sapiens (human)ALAS1NP_000679.1
Pan troglodytes (chimpanzee)ALAS1XP_001171508.2
Macaca mulatta (Rhesus monkey)ALAS1XP_001090675.1
Canis lupus familiaris (dog)ALAS1XP_533804.3
Bos taurus (cattle)ALAS1NP_001094624.1
Mus musculus (house mouse)Alas1NP_065584.2
Rattus norvegicus (Norway rat)Alas1NP_077810.2
Gallus gallus (chicken)ALAS1NP_001018012.1
Danio rerio (zebrafish)alas1NP_958444.1
Xenopus (Silurana) tropicalis (western clawed frog)alas1NP_001008072.1
Process
IDNameEvidence
GO:0006778porphyrin-containing compound metabolic processTAS
GO:0006782protoporphyrinogen IX biosynthetic processIEA
GO:0006783heme biosynthetic processTAS
GO:0044255cellular lipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005759mitochondrial matrixTAS
Function
IDNameEvidence
GO:00038705-aminolevulinate synthase activityIEA
GO:0030170pyridoxal phosphate bindingIEA
GeneCards ALAS1
UniProt P13196, Q5JAM2
Vega OTTHUMG00000158108
MIM 125290
Ensembl ENSG00000023330
HGNC 396
HPRD 00505

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

What is the normal function of the ALAS1 gene?

The ALAS1 gene provides instructions for making an enzyme called delta-aminolevulinate synthase 1 or ALA-synthase. ALAS1 is one of two genes that carry instructions for making versions of the ALA-synthase enzyme. The other ALA-synthase gene, ALAS2, is turned on (active) only in developing red blood cells (erythroblasts). The ALAS1 gene is active in cells throughout the body.

ALA-synthase plays an important role in the production of heme. Heme is a component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver.

The production of heme is a multi-step process that requires eight different enzymes. ALA-synthase is responsible for the first step in this process, the formation of a compound called delta-aminolevulinic acid (ALA). In subsequent steps, seven other enzymes produce and modify compounds that ultimately lead to heme.

Interactant

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