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ALAS1 Gene(Protein Coding)

5'-Aminolevulinate Synthase 1

GCID:
GC03P052198
GIFtS:
63
Genes Participants
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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 63
  • ALAS-H 3 4
  • ALAS3 3 4
  • ALASH 3 4
  • Migration-Inducing Protein 4 3
  • EC 2.3.1 63
  • 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 Porphyria, Acute Intermittent. Among its related pathways are Porphyrin and chlorophyll metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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

Products:

  1. Regulatory Element

Regulatory Elements for ALAS1 Gene

Enhancers for ALAS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ALAS1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ALAS1 Gene at MOPED

Protein Expression for ALAS1 Gene

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

Selected DME Specific Peptides for ALAS1 Gene

P13196:

Post-translational modifications for ALAS1 Gene

  • Ubiquitination at Lys 539
  • 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

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

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,TAS --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with ALAS1: view

Phenotypes for ALAS1 Gene

MGI mutant phenotypes for ALAS1:
inferred from 1 alleles
GenomeRNAi human phenotypes for ALAS1:
genes like me logo Genes that share phenotypes with ALAS1: view

Animal Models for ALAS1 Gene

MGI Knock Outs for ALAS1:

Animal Model Products

miRNA for ALAS1 Gene

miRTarBase miRNAs that target ALAS1

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for ALAS1 Gene COMPARTMENTS Subcellular localization image for ALAS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ALAS1 Gene

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:0006996 organelle organization TAS --
GO:0008152 metabolic process IEA --
GO:0009058 biosynthetic 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

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 197
Aminolevulinic acid Approved Pharma 149
Succinyl-CoA Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, Target, cofactor 14
heme Pharma Agonist 0

(12) 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
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
 124-38-9
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
  5. Flow Cytometry

mRNA/cDNA for ALAS1 Gene

(6) 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:

Inhibitory RNA Products

Flow Cytometry 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 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



SOURCE GeneReport for Unigene cluster for ALAS1 Gene Hs.476308

genes like me logo Genes that share expression patterns with ALAS1: view

Protein tissue co-expression partners for ALAS1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
 Mammalia ALAS1 35
  • 88.39 (n)
  • 90.78 (a)
ALAS1 36
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ALAS1 35
  • 91.72 (n)
  • 95.31 (a)
ALAS1 36
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Alas1 35
  • 87.5 (n)
  • 91.72 (a)
Alas1 16
Alas1 36
  • 91 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ALAS1 35
  • 99.58 (n)
  • 100 (a)
ALAS1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Alas1 35
  • 87.4 (n)
  • 90.47 (a)
oppossum
(Monodelphis domestica)
 Mammalia ALAS1 36
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ALAS1 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ALAS1 35
  • 76.57 (n)
  • 84.04 (a)
ALAS1 36
  • 83 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ALAS1 36
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia alas1 35
  • 72.76 (n)
  • 78.53 (a)
Str.5235 35
African clawed frog
(Xenopus laevis)
 Amphibia MGC68700 35
zebrafish
(Danio rerio)
 Actinopterygii alas1 35
  • 70.1 (n)
  • 74.3 (a)
alas1 36
  • 74 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8381 35
fruit fly
(Drosophila melanogaster)
 Insecta Alas 37
  • 64 (a)
Alas 36
  • 53 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM1 36
  • 36 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9850 35
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8623 36
  • 56 (a)
 OneToMany
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

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
rs104902 -- 52,196,424(+) CCCCC(A/C)AAAAA upstream-variant-2KB
rs104903 -- 52,196,459(+) gctca(A/T)gccta upstream-variant-2KB
rs709315 -- 52,198,169(-) GTCCG(A/G)GAGCA utr-variant-5-prime
rs164640 -- 52,213,298(-) GCCAC(A/G)CTGGG intron-variant
rs164641 -- 52,207,213(-) atcct(A/G)gctaa 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

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

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

Disorders for ALAS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acute porphyria
  • hepatic porphyria
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
anemia, sideroblastic, x-linked
  • x-linked sideroblastic anemia
pyridoxine-responsive sideroblastic anemia
sideroblastic anemia
  • anemia sideroblastic
- 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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Histidine 282 in 5-aminolevulinate synthase affects substrate binding and catalysis. (PMID: 17469798) Turbeville T.D. … Ferreira G.C. (Biochemistry 2007) 23 25 26
  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 23
  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 23
  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 23

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