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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu14916 NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu14916 NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu37039 XM_005264944 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu14916 XM_005264945 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu14916C NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu14916C NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu37039C XM_005264944 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu14916C XM_005264945 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00

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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?

Interactant

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