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Aliases for ALAS1 Gene

Aliases for ALAS1 Gene

  • 5'-Aminolevulinate Synthase 1 2
  • Aminolevulinate, Delta-, Synthase 1 2 3
  • Delta-Aminolevulinate Synthase 1 3 4
  • 5-Aminolevulinic Acid Synthase 1 3 4
  • 5-Aminolevulinate Synthase 1 2 3
  • Delta-ALA Synthase 1 3 4
  • EC 4 63
  • ALAS-H 3 4
  • ALAS3 3 4
  • ALASH 3 4
  • 5-Aminolevulinate Synthase, Nonspecific, Mitochondrial 3
  • Migration-Inducing Protein 4 3
  • EC 2.3.1 63
  • MIG4 3
  • ALAS 3

External Ids for ALAS1 Gene

Previous Symbols for ALAS1 Gene

  • ALAS3
  • ALAS

Summaries for ALAS1 Gene

Entrez Gene Summary for ALAS1 Gene

  • 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

GeneCards Summary for ALAS1 Gene

ALAS1 (5'-Aminolevulinate Synthase 1) is a Protein Coding gene. Diseases associated with ALAS1 include porphyria, acute intermittent and acute porphyria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and 5-aminolevulinate synthase activity. An important paralog of this gene is ALAS2.

Gene Wiki entry for ALAS1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALAS1 Gene

Genomics for ALAS1 Gene

Genomic Location for ALAS1 Gene

52,198,083 bp from pter
52,214,327 bp from pter
16,245 bases
Plus strand

Genomic View for ALAS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALAS1 Gene

Regulatory Elements for ALAS1 Gene

Transcription factor binding sites by QIAGEN in the ALAS1 gene promoter:

Proteins for ALAS1 Gene

  • Protein details for ALAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    5-aminolevulinate synthase, nonspecific, mitochondrial
    Protein Accession:
    Secondary Accessions:

    Protein attributes for ALAS1 Gene

    640 amino acids
    Molecular mass:
    70581 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer
    • There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues
    • Sequence=CAA68506.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for ALAS1 Gene


neXtProt entry for ALAS1 Gene

Proteomics data for ALAS1 Gene at MOPED

Post-translational modifications for ALAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys539

Other Protein References for ALAS1 Gene

Domains for ALAS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.:
    • P13196
genes like me logo Genes that share domains with ALAS1: view

No data available for Gene Families for ALAS1 Gene

Function for ALAS1 Gene

Molecular function for ALAS1 Gene

GENATLAS Biochemistry: aminolevulinate,delta-,synthase 1,housekeeping gene,liver,mitochondrial,pyridoxal dependent,catalyzing the first step of porphyrin biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity: Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)

Enzyme Numbers (IUBMB) for ALAS1 Gene

Gene Ontology (GO) - Molecular Function for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003870 5-aminolevulinate synthase activity IEA --
GO:0005515 protein binding IPI 21516116
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with ALAS1: view
genes like me logo Genes that share phenotypes with ALAS1: view

miRNA for ALAS1 Gene

miRTarBase miRNAs that target ALAS1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ALAS1 Gene

Localization for ALAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALAS1 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for ALAS1 Gene COMPARTMENTS Subcellular localization image for ALAS1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ALAS1: view

Pathways for ALAS1 Gene

genes like me logo Genes that share pathways with ALAS1: view

UniProtKB/Swiss-Prot P13196-HEM1_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1

Gene Ontology (GO) - Biological Process for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0006996 organelle organization TAS --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with ALAS1: view

Compounds for ALAS1 Gene

(10) HMDB Compounds for ALAS1 Gene

Compound Synonyms Cas Number PubMed IDs
5-Aminolevulinic acid
  • 5-amino-4-oxo-Pentanoate
  • S-Acetyl coenzyme A
Carbon dioxide
  • Carbon oxide
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
  • Formyl coenzyme A

(1) Drugbank Compounds for ALAS1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(17) Novoseek inferred chemical compound relationships for ALAS1 Gene

Compound -log(P) Hits PubMed IDs
5-aminolevulinic acid 92.6 43
porphobilinogen 74.5 4
pyridoxal 5-phosphate 72.2 8
actb 67.3 2
pyridoxal 66.4 2
genes like me logo Genes that share compounds with ALAS1: view

Transcripts for ALAS1 Gene

Unigene Clusters for ALAS1 Gene

Aminolevulinate, delta-, synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALAS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5: - -
SP6: - -

Relevant External Links for ALAS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALAS1 Gene

mRNA expression in normal human tissues for ALAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALAS1 Gene

This gene is overexpressed in Adrenal Gland (12.3) and Liver (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ALAS1 Gene

SOURCE GeneReport for Unigene cluster for ALAS1 Gene Hs.476308

genes like me logo Genes that share expressions with ALAS1: view

No data available for mRNA Expression by UniProt/SwissProt for ALAS1 Gene

Orthologs for ALAS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALAS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALAS1 35
  • 99.58 (n)
  • 100 (a)
ALAS1 36
  • 100 (a)
(Bos Taurus)
Mammalia ALAS1 35
  • 88.39 (n)
  • 90.78 (a)
ALAS1 36
  • 90 (a)
(Canis familiaris)
Mammalia ALAS1 35
  • 91.72 (n)
  • 95.31 (a)
ALAS1 36
  • 87 (a)
(Mus musculus)
Mammalia Alas1 35
  • 87.5 (n)
  • 91.72 (a)
Alas1 16
Alas1 36
  • 91 (a)
(Monodelphis domestica)
Mammalia ALAS1 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia ALAS1 36
  • 88 (a)
(Rattus norvegicus)
Mammalia Alas1 35
  • 87.4 (n)
  • 90.47 (a)
(Gallus gallus)
Aves ALAS1 35
  • 76.57 (n)
  • 84.04 (a)
ALAS1 36
  • 83 (a)
(Anolis carolinensis)
Reptilia ALAS1 36
  • 85 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68700 35
tropical clawed frog
(Silurana tropicalis)
Amphibia alas1 35
  • 72.76 (n)
  • 78.53 (a)
Str.5235 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8381 35
(Danio rerio)
Actinopterygii alas1 35
  • 70.1 (n)
  • 74.3 (a)
alas1 36
  • 74 (a)
fruit fly
(Drosophila melanogaster)
Insecta Alas 36
  • 53 (a)
Alas 37
  • 64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 36
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9850 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8623 36
  • 56 (a)
Species with no ortholog for ALAS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALAS1 Gene

Gene Tree for ALAS1 (if available)
Gene Tree for ALAS1 (if available)

Paralogs for ALAS1 Gene

Paralogs for ALAS1 Gene

Selected SIMAP similar genes for ALAS1 Gene using alignment to 4 proteins: Pseudogenes for ALAS1 Gene

genes like me logo Genes that share paralogs with ALAS1: view

Variants for ALAS1 Gene

Sequence variations from dbSNP and Humsavar for ALAS1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs104902 -- 52,196,424(+) CCCCC(A/C)AAAAA upstream-variant-2KB
rs104903 -- 52,196,459(+) gctca(A/T)gccta upstream-variant-2KB
rs164640 -- 52,213,298(-) GCCAC(A/G)CTGGG intron-variant
rs164641 -- 52,207,213(-) atcct(A/G)gctaa intron-variant
rs181274 -- 52,199,845(-) gactc(A/T)gtctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALAS1 Gene

Variant ID Type Subtype PubMed ID
nsv519445 CNV Gain+Loss 19592680
nsv876786 CNV Loss 21882294
nsv470572 CNV Loss 18288195
nsv460537 CNV Loss 19166990
nsv508218 CNV Loss 20534489
nsv508926 CNV Insertion 20534489
nsv834694 CNV Gain 17160897
nsv834695 CNV Loss 17160897
dgv5136n71 CNV Gain 21882294
nsv876789 CNV Loss 21882294

Relevant External Links for ALAS1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALAS1 Gene

Disorders for ALAS1 Gene

(2) University of Copenhagen DISEASES for ALAS1 Gene

(5) Novoseek inferred disease relationships for ALAS1 Gene

Disease -log(P) Hits PubMed IDs
anemia sideroblastic 91.8 9
anemia congenital sideroblastic 81.5 1
porphyria hepatic 81 2
porphyria 73.4 2
porphyria acute intermittent 72.6 1

Relevant External Links for ALAS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ALAS1: view

No data available for UniProtKB/Swiss-Prot for ALAS1 Gene

Publications for ALAS1 Gene

  1. Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. (PMID: 7698013) Cotter P.D. … Bishop D.F. (Cytogenet. Cell Genet. 1995) 3 23
  2. Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. (PMID: 2347585) Bishop D.F. … Astrin K.H. (Genomics 1990) 3 23
  3. Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes. (PMID: 11267664) Roberts A.G. … Elder G.H. (Biochim. Biophys. Acta 2001) 3 23
  4. Inhibitory effect of AP-1 complex on 5-aminolevulinate synthase gene expression through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator. (PMID: 12433930) Guberman A.S. … CA!nepa E.T. (J. Biol. Chem. 2003) 3 23
  5. Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression. (PMID: 15123725) Scassa M.E. … CA!nepa E.T. (J. Biol. Chem. 2004) 3 23

Products for ALAS1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ALAS1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ALAS1
    • Block miRNA regulation of ALAS1 using miScript Target Protectors

    Sources for ALAS1 Gene

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