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    ALAS2 5'-aminolevulinate synthase 2 [ Homo sapiens (human) ]

    Gene ID: 212, updated on 17-Feb-2018
    Official Symbol
    ALAS2provided by HGNC
    Official Full Name
    5'-aminolevulinate synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:397
    See related
    Ensembl:ENSG00000158578 MIM:301300; Vega:OTTHUMG00000021641
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1
    Summary
    The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward bone marrow (RPKM 181.6) See more
    Orthologs
    Location:
    Xp11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (55009055..55031064, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55035488..55057497, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene PAGE family member 2B Neighboring gene PAGE family member 2 Neighboring gene component of oligomeric golgi complex 1 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
      Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
    • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
      Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
    • Heme Biosynthesis, organism-specific biosystem (from WikiPathways)
      Heme Biosynthesis, organism-specific biosystemThe enzymatic process that produces heme is properly called porphyrin synthesis, as all the intermediates are tetrapyrroles that are chemically classified are porphyrins. The process is highly conser...
    • Heme biosynthesis, organism-specific biosystem (from REACTOME)
      Heme biosynthesis, organism-specific biosystemEight enzymes are involved in heme biosynthesis, four each in the mitochondria and the cytosol. The process starts in the mitochondria with the condensation of succinyl CoA (from the TCA cycle) and g...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of porphyrins, organism-specific biosystem (from REACTOME)
      Metabolism of porphyrins, organism-specific biosystemPorphyrins are heterocyclic macrocycles, consisting of four pyrrole subunits (tetrapyrrole) linked by four methine (=CH-) bridges. The extensive conjugated porphyrin macrocycle is chromatic and the n...
    • Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
      Porphyrin and chlorophyll metabolism, organism-specific biosystem
      Porphyrin and chlorophyll metabolism
    • Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
      Porphyrin and chlorophyll metabolism, conserved biosystem
      Porphyrin and chlorophyll metabolism
    • heme biosynthesis, organism-specific biosystem (from BIOCYC)
      heme biosynthesis, organism-specific biosystemGeneral Background Heme (protoheme, heme b) is an iron-containing porphyrin, that belongs to the family of macrocyclic tetrapyrroles. It has a diverse range of biological functions as a prosthetic g...
    • superpathway of heme biosynthesis from glycine, conserved biosystem (from BIOCYC)
      superpathway of heme biosynthesis from glycine, conserved biosystemGeneral Background Heme (protoheme, heme b) is an iron-containing prosthetic group found in many essential proteins including cytochromes and heme-containing globins. In addition to its role in oxi...
    • tetrapyrrole biosynthesis, organism-specific biosystem (from BIOCYC)
      tetrapyrrole biosynthesis, organism-specific biosystemBackground Tetrapyrroles play a role in a variety of biological processes such as photosynthesis and respiration. They are large macrocyclic compounds derived from a common biosynthetic pathway . Te...
    • tetrapyrrole biosynthesis II (from glycine), conserved biosystem (from BIOCYC)
      tetrapyrrole biosynthesis II (from glycine), conserved biosystemTetrapyrrole compounds include four rings of the pyrrole type, generally linked together by single-atom bridges between the alpha positions of the five-membered pyrrole rings. Tetrapyrroles usually f...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ93603

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    5-aminolevulinate synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    5-aminolevulinate synthase activity TAS
    Traceable Author Statement
    more info
     
    coenzyme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glycine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    erythrocyte differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heme biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    hemoglobin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxygen homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
    Names
    5-aminolevulinic acid synthase 2
    aminolevulinate, delta-, synthase 2
    delta-ALA synthase 2
    delta-ALA synthetase
    delta-aminolevulinate synthase 2
    NP_000023.2
    NP_001033056.1
    NP_001033057.1
    XP_005262052.1
    XP_011529073.1
    XP_016884843.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008983.1 RefSeqGene

      Range
      5001..27010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000032.4NP_000023.2  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_000023.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK313118, BQ182291
      Consensus CDS
      CCDS14366.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000332369.5, OTTHUMP00000023388, ENST00000330807.9, OTTHUMT00000056843
      Conserved Domains (3) summary
      COG0156
      Location:143534
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:143548
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:5100
      Preseq_ALAS; 5-aminolevulinate synthase presequence
    2. NM_001037967.3NP_001033056.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001033056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK291589, BP284609, BQ182291
      Consensus CDS
      CCDS35303.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000337131.4, OTTHUMP00000204081, ENST00000335854.8, OTTHUMT00000331578
      Conserved Domains (3) summary
      COG0156
      Location:106497
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:106511
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:5100
      Preseq_ALAS; 5-aminolevulinate synthase presequence
    3. NM_001037968.3NP_001033057.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c precursor

      See identical proteins and their annotated locations for NP_001033057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, has an additional 5' exon resulting in an alternate start codon, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) is shorter but has a longer and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AL020991, BP233279, BP284609, BQ182291
      Consensus CDS
      CCDS43960.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000379501.3, OTTHUMP00000023389, ENST00000396198.7, OTTHUMT00000056844
      Conserved Domains (3) summary
      COG0156
      Location:130521
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:130535
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:29124
      Preseq_ALAS; 5-aminolevulinate synthase presequence

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      55009055..55031064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530771.1XP_011529073.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X3

      Conserved Domains (2) summary
      COG0156
      Location:1247
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      cl18945
      Location:1261
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    2. XM_005261995.3XP_005262052.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005262052.1

      Conserved Domains (3) summary
      COG0156
      Location:167558
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:167572
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:29124
      Preseq_ALAS; 5-aminolevulinate synthase presequence
    3. XM_017029354.1XP_016884843.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      55025527..55047534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037969.2: Suppressed sequence

      Description
      NM_001037969.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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