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 ... See more...

Aliases for ALAS1 Gene

Aliases for ALAS1 Gene

  • 5'-Aminolevulinate Synthase 1 2 3 5
  • 5-Aminolevulinate Synthase, Nonspecific, Mitochondrial 3 4
  • Aminolevulinate, Delta-, Synthase 1 2 3
  • 5-Aminolevulinic Acid Synthase 1 3 4
  • Delta-Aminolevulinate Synthase 1 3 4
  • Delta-ALA Synthase 1 3 4
  • EC 4 50
  • ALAS-H 3 4
  • ALAS3 3 4
  • ALASH 3 4
  • Migration-Inducing Protein 4 3
  • EC 2.3.1 50
  • ALAS1 5
  • ALAS 3
  • MIG4 3

External Ids for ALAS1 Gene

Previous HGNC Symbols for ALAS1 Gene

  • ALAS3
  • ALAS

Previous GeneCards Identifiers for ALAS1 Gene

  • GC03P051324
  • GC03P051484
  • GC03P052088
  • GC03P052190
  • GC03P052207

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 Acute Porphyria and Anemia, Sideroblastic, 1. Among its related pathways are Metabolism and Organelle biogenesis and maintenance. Gene Ontology (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 CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALAS1 Gene

Genomics for ALAS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALAS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052194 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -1.2 -1224 5.5 ZNF207 IKZF1 ZNF592 POLR2A CEBPA YY1 MXD4 BCL11A CTCF CEBPB ALAS1 GLYCTK PBRM1 NT5DC2 ALDOAP1 POC1A
GH03J052181 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 7.1 -15.9 -15883 2.8 NCOR1 CEBPA ATF3 ZIC2 CEBPB ZFP64 EP300 FOXA2 SMAD4 RXRA POC1A GLYCTK WDR82 MIR135A1 GLYCTK-AS1 PBRM1 ALAS1 NT5DC2 ENSG00000286419 HQ262401
GH03J052176 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.2 -20.5 -20482 2.4 CEBPA ATF3 YY1 CEBPB FOXA1 FOXA2 KDM6A SMAD4 RXRA SAP130 POC1A ALAS1 PPM1M GPR62 ENSG00000286419 HQ262401
GH03J052085 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 -109.4 -109362 7.8 JUND ZIC2 REST NR2C1 EBF1 BHLHE40 SPI1 MYC HNF4A CTCF GPR62 DUSP7 PCBP4 ABHD14B ALAS1 PPM1M GLYCTK HSALNG0026117 POC1A
GH03J051962 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 -234.2 -234232 2.3 SIN3A GLIS1 EGR2 ZBTB17 ALAS1 HSALNG0026101 ABHD14A GPR62 ENSG00000272762 PCBP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALAS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALAS1

Top Transcription factor binding sites by QIAGEN in the ALAS1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for ALAS1 Gene

Latest Assembly
16,245 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
16,245 bases
Plus strand

(GRCh37/hg19 by Ensembl)
16,242 bases
Plus strand

Genomic View for ALAS1 Gene

Genes around ALAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALAS1 Gene

Proteins for ALAS1 Gene

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

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

    Protein attributes for ALAS1 Gene

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

    Alternative splice isoforms for ALAS1 Gene


neXtProt entry for ALAS1 Gene

Selected DME Specific Peptides for ALAS1 Gene


Post-translational modifications for ALAS1 Gene

  • Ubiquitination at Lys539
  • Modification sites at PhosphoSitePlus

Domains & Families for ALAS1 Gene

Gene Families for ALAS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ALAS1 Gene

Suggested Antigen Peptide Sequences for ALAS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53856, highly similar to 5-aminolevulinate synthase, nonspecific, mitochondrial (EC (B4DDG9_HUMAN)
  • Delta-aminolevulinate synthase 1 (HEM1_HUMAN)
  • cDNA, FLJ92941, Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, mRNA (Q5JAM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for ALAS1 Gene

Molecular function for ALAS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA; Xref=Rhea:RHEA:12921, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:57305, ChEBI:CHEBI:356416; EC=;.
GENATLAS Biochemistry:
aminolevulinate,delta-,synthase 1,housekeeping gene,liver,mitochondrial,pyridoxal dependent,catalyzing the first step of porphyrin biosynthesis

Enzyme Numbers (IUBMB) for ALAS1 Gene

Phenotypes From GWAS Catalog for ALAS1 Gene

Gene Ontology (GO) - Molecular Function for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003870 5-aminolevulinate synthase activity IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with ALAS1: view
genes like me logo Genes that share phenotypes with ALAS1: view

Animal Models for ALAS1 Gene

MGI Knock Outs for ALAS1:

miRNA for ALAS1 Gene

miRTarBase miRNAs that target ALAS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALAS1 Gene

Localization for ALAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALAS1 Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALAS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ALAS1: view

Pathways & Interactions 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:0001666 response to hypoxia IBA 21873635
GO:0006778 porphyrin-containing compound metabolic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with ALAS1: view

No data available for SIGNOR curated interactions for ALAS1 Gene

Drugs & Compounds for ALAS1 Gene

(16) Drugs for ALAS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Target, substrate 203
Pyridoxal Phosphate Approved, Investigational Nutra Target, Target, cofactor 18
Aminolevulinic acid Approved Pharma 208
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Succinyl-CoA Experimental Pharma 0

(10) Additional Compounds for ALAS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
L-2-Amino-3-oxobutanoic acid
  • (S)-2-Amino-3-oxobutanoic acid
  • 2-AMINO-3-ketobutyrIC ACID
  • L-2-Amino-3-oxobutanoate
  • L-2-Amino-acetoacetate
  • (S)-2-Amino-3-oxobutanoate
genes like me logo Genes that share compounds with ALAS1: view

Transcripts for ALAS1 Gene

mRNA/cDNA for ALAS1 Gene

14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAS1

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

Expression for ALAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALAS1 Gene

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

This gene is overexpressed in Adrenal Gland (x12.3) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for ALAS1 Gene

This gene is overexpressed in Fetal ovary (17.6), Fetal testis (17.5), Adrenal (16.8), and Liver (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALAS1 Gene

Protein tissue co-expression partners for ALAS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALAS1

SOURCE GeneReport for Unigene cluster for ALAS1 Gene:


Evidence on tissue expression from TISSUES for ALAS1 Gene

  • Liver(4.7)
  • Muscle(4.6)
  • Nervous system(4.5)
  • Blood(3.2)
  • Adrenal gland(3)
  • Heart(2.6)
  • Bone marrow(2.5)
  • Lung(2.5)
  • Kidney(2.3)
  • Skin(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with ALAS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.58 (n)
(Canis familiaris)
Mammalia ALAS1 29 30
  • 91.72 (n)
(Monodelphis domestica)
Mammalia ALAS1 30
  • 89 (a)
(Bos Taurus)
Mammalia ALAS1 29 30
  • 88.39 (n)
(Ornithorhynchus anatinus)
Mammalia ALAS1 30
  • 88 (a)
(Mus musculus)
Mammalia Alas1 29 16 30
  • 87.5 (n)
(Rattus norvegicus)
Mammalia Alas1 29
  • 87.4 (n)
(Gallus gallus)
Aves ALAS1 29 30
  • 76.57 (n)
(Anolis carolinensis)
Reptilia ALAS1 30
  • 85 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia alas1 29
  • 72.76 (n)
Str.5235 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68700 29
(Danio rerio)
Actinopterygii alas1 29 30
  • 70.1 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8381 29
Fruit Fly
(Drosophila melanogaster)
Insecta Alas 30 31
  • 53 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 30
  • 36 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8623 30
  • 56 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9850 29
Species where no ortholog for ALAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Evolutionary constrained regions (ECRs) for ALAS1: view image
Alliance of Genome Resources:
Additional Orthologs for ALAS1

Paralogs for ALAS1 Gene

Paralogs for ALAS1 Gene

(1) SIMAP similar genes for ALAS1 Gene using alignment to 4 proteins:

  • H7C4H7_HUMAN
  • H7C5B0_HUMAN
  • Q5JAM2_HUMAN Pseudogenes for ALAS1 Gene

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

Variants for ALAS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALAS1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs35338461 Benign: not provided 52,199,279(+) G/A
NM_000688.6(ALAS1):c.38G>A (p.Arg13Gln)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ALAS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv460537 CNV loss 19166990
nsv470572 CNV loss 18288195
nsv508218 CNV deletion 20534489
nsv508926 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv590301 CNV loss 21841781
nsv834694 CNV gain 17160897
nsv834695 CNV loss 17160897
nsv954858 CNV deletion 24416366

Variation tolerance for ALAS1 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALAS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for ALAS1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ALAS1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
acute porphyria
  • hepatic porphyria
anemia, sideroblastic, 1
  • sidba1
porphyria, acute intermittent
  • aip
sideroblastic anemia
  • anemia sideroblastic
  • disorder of porphyrin and hem metabolism
- elite association - COSMIC cancer census association via MalaCards
Search ALAS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALAS1

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ALAS1: view

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

Publications for ALAS1 Gene

  1. Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes. (PMID: 11267664) Roberts AG … Elder GH (Biochimica et biophysica acta 2001) 2 3 22
  2. 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 PD … Bishop DF (Cytogenetics and cell genetics 1995) 2 3 22
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen. (PMID: 19656447) du Plessis N … Warnich L (Cellular and molecular biology (Noisy-le-Grand, France) 2009) 3 22

Products for ALAS1 Gene

Sources for ALAS1 Gene