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ALAS1 Gene(Protein Coding)

5'-Aminolevulinate Synthase 1

GCID:
GC03P052198
GIFtS:
62
Genes Participants
UDN Logo

Aliases for ALAS1 Gene

Aliases for ALAS1 Gene

  • 5'-Aminolevulinate Synthase 1 2
  • 5-Aminolevulinate Synthase 1 2 3 5
  • Aminolevulinate, Delta-, Synthase 1 2 3
  • Delta-Aminolevulinate Synthase 1 3 4
  • 5-Aminolevulinic Acid Synthase 1 3 4
  • Delta-ALA Synthase 1 3 4
  • EC 2.3.1.37 4 61
  • 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 61
  • MIG4 3
  • ALAS 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, X-Linked. Among its related pathways are Mitochondrial Gene Expression and Porphyrin and chlorophyll 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 CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALAS1 Gene

Genomics for ALAS1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ALAS1 Gene

Enhancers for ALAS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G052182 1.1 FANTOM5 dbSUPER 7.1 -15.8 -15776 0.4 TFAP4 ESRRA ZFP64 MAX THRB RAD21 RARA YY1 NCOR1 HNF4G POC1A ALAS1 ALDOAP1
GH03G051962 1.1 ENCODE dbSUPER 4.1 -234.3 -234262 2.2 BCOR FOXA2 PKNOX1 JUN ZMYM3 ARID4B SIN3A TEAD3 FOSL1 CTBP1 ALAS1 GC03P051963 GPR62
GH03G052085 0.4 ENCODE 4 -112.0 -112044 0.2 BHLHE40 IKZF1 ALAS1 LINC00696 POC1A
GH03G052194 1.6 Ensembl ENCODE dbSUPER 0.7 -1.3 -1265 5.4 HDGF ZFP64 SIN3A ARID4B DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 KLF13 WDR82 RAD54L2 GLYCTK PBRM1 NT5DC2 ALAS1 ALDOAP1
GH03G052202 1.1 ENCODE dbSUPER 0.7 +4.5 4502 2.3 HDGF PKNOX1 SREBF2 SIN3A THRB YY1 RARA GLIS2 FOS IKZF2 TLR9 ENSG00000173366 LOC101929054 TWF2 GLYCTK WDR82 MIR135A1 GLYCTK-AS1 NT5DC2 DUSP7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALAS1 on UCSC Golden Path with GeneCards custom track

Promoters for ALAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152507 417 1001 HDGF ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF48 ZNF766 GLIS2 GATA2

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

Genomic Location for ALAS1 Gene

Chromosome:
3
Start:
52,198,083 bp from pter
End:
52,214,327 bp from pter
Size:
16,245 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ALAS1 Gene

Proteins for ALAS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P13196-HEM1_HUMAN
    Recommended name:
    5-aminolevulinate synthase, nonspecific, mitochondrial
    Protein Accession:
    P13196

    Protein attributes for ALAS1 Gene

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

    Alternative splice isoforms for ALAS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALAS1 Gene

Protein Expression for ALAS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALAS1 Gene

P13196:
  • FSSCFVAND
  • HLRELLQRSDP
  • DEVHAVGLYG
  • KDAALLF
  • SLLFYAQ
  • VWCSNDYL
  • VHSMDGA
  • VGLELKPHSSAEC
  • GCVGGYIA
  • LPKSVSTFQYD
  • PTPHHTP
  • GALESVR
  • RVADAAKNTE
  • VANDSTL
  • CNFCRRP
  • FFEKKIDEKK
  • IFRHNDV
  • PKIVAFE
  • PLHFEVM
  • GFIFTTSLPP
  • PGCEIYSD
  • DIISGTLGKA
  • IYVQAIN
  • YRVFKTVNR
  • LLRIAPTPHH
  • KQRPERVSHLLQD
  • CPSHIIP
  • GAGGTRNI

Post-translational modifications for ALAS1 Gene

  • Ubiquitination at Lys539
  • Modification sites at PhosphoSitePlus

Other Protein References for ALAS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALAS1 Gene

Protein Domains for ALAS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ALAS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13196

UniProtKB/Swiss-Prot:

HEM1_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ALAS1: view

No data available for Gene Families for ALAS1 Gene

Function for ALAS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 TAS --
GO:0005515 protein binding IPI 21516116
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
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

Animal Models for ALAS1 Gene

MGI Knock Outs for ALAS1:

Animal Model Products

CRISPR Products

miRNA for ALAS1 Gene

miRTarBase miRNAs that target ALAS1

Inhibitory RNA Products

Clone Products

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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for ALAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion 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: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 --
GO:0008152 metabolic process IEA --
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

Products:

  1. Drug

(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 Full agonist, Agonist, Target 232
Aminolevulinic acid Approved Pharma 165
Carbon dioxide Approved, Vet_approved Pharma 0
Succinyl-CoA Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, Target, cofactor 15

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
 72-89-9
Formyl-CoA
  • Formyl coenzyme A
 13131-49-2
L-2-Amino-3-oxobutanoic acid
  • (2S)-2-amino-3-oxobutanoate
  • (2S)-2-amino-3-oxobutanoic acid
  • (S)-2-Amino-3-oxobutanoate
  • (S)-2-Amino-3-oxobutanoic acid
  • 2-Amino-3-oxobutanoate
genes like me logo Genes that share compounds with ALAS1: view

Transcripts for ALAS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALAS1 Gene

(7) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(369) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALAS1 Gene

Aminolevulinate, delta-, synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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: - -
SP7:

Relevant External Links for ALAS1 Gene

GeneLoc Exon Structure for
ALAS1
ECgene alternative splicing isoforms for
ALAS1

Expression for ALAS1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ALAS1 Gene
mRNA expression by BioGPS for ALAS1 GenemRNA expression by GTEx 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, PaxDb, and MOPED for ALAS1 Gene



Protein tissue co-expression partners for ALAS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALAS1 Gene:

ALAS1

SOURCE GeneReport for Unigene cluster for ALAS1 Gene:

Hs.476308

Evidence on tissue expression from TISSUES for ALAS1 Gene

  • Liver(4.7)
  • Muscle(4.4)
  • Nervous system(4.4)
  • Blood(2.7)
  • Adrenal gland(2.5)
genes like me logo Genes that share expression patterns with ALAS1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia ALAS1 35 34
  • 99.58 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ALAS1 34 35
  • 91.72 (n)
oppossum
(Monodelphis domestica)
 Mammalia ALAS1 35
  • 89 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ALAS1 34 35
  • 88.39 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ALAS1 35
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Alas1 34 16 35
  • 87.5 (n)
rat
(Rattus norvegicus)
 Mammalia Alas1 34
  • 87.4 (n)
chicken
(Gallus gallus)
 Aves ALAS1 34 35
  • 76.57 (n)
lizard
(Anolis carolinensis)
 Reptilia ALAS1 35
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia alas1 34
  • 72.76 (n)
Str.5235 34
African clawed frog
(Xenopus laevis)
 Amphibia MGC68700 34
zebrafish
(Danio rerio)
 Actinopterygii alas1 34 35
  • 70.1 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8381 34
fruit fly
(Drosophila melanogaster)
 Insecta Alas 36 35
  • 64 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM1 35
  • 36 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8623 35
  • 56 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9850 34
Species where no ortholog for ALAS1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for ALAS1 (if available)
TreeFam:
Gene Tree for ALAS1 (if available)

Paralogs for ALAS1 Gene

Paralogs for ALAS1 Gene

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

Pseudogenes.org 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
rs1000023450 -- 52,209,986(+) CTTCT(A/G)GAGTT intron-variant
rs1000263455 -- 52,196,627(+) ATCGC(C/T)TGAAC upstream-variant-2KB
rs1000338998 -- 52,196,844(+) ATTCT(C/G)TTCCC upstream-variant-2KB
rs1000521004 -- 52,212,416(+) TACTT(C/G)CTTGG reference, missense
rs1000544499 -- 52,203,478(+) GAGGT(-/TGCAATGAGTC)TGCAA intron-variant

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)

Relevant External Links for ALAS1 Gene

Human Gene Mutation Database (HGMD)
ALAS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALAS1

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

Disorders for ALAS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ALAS1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute porphyria
  • hepatic porphyria
anemia, sideroblastic, x-linked
  • x-linked sideroblastic anemia
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
sideroblastic anemia
  • anemia sideroblastic
porphyria
  • 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

Relevant External Links for ALAS1

Genetic Association Database (GAD)
ALAS1
Human Genome Epidemiology (HuGE) Navigator
ALAS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALAS1
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. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease. (PMID: 19477221) Dwyer B.E. … Zhu X. (Neurosci. Lett. 2009) 3 22 64
  4. 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. (Cell. Mol. Biol. (Noisy-le-grand) 2009) 3 22 64
  5. Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin. (PMID: 18719978) Zheng J. … Bonkovsky H.L. (Mol. Cell. Biochem. 2008) 3 22 64

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