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ALAS2 aminolevulinate, delta-, synthase 2 [ Homo sapiens (human) ]

Gene ID: 212, updated on 16-Apr-2014
Official Symbol
ALAS2provided by HGNC
Official Full Name
aminolevulinate, delta-, synthase 2provided by HGNC
Primary source
HGNC:397
Locus tag
RP5-884M20.1
See related
Ensembl:ENSG00000158578; HPRD:02356; 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
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]
Location :
Xp11.21
Sequence :
Chromosome: X; NC_000023.11 (55009055..55031064, complement)
See ALAS2 in Epigenomics, MapViewer

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Neighboring gene P antigen family, member 2B Neighboring gene P antigen family, member 2 (prostate associated)

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...
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5-aminolevulinate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
porphyrin-containing compound metabolic process TAS
Traceable Author Statement
more info
 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
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-aminolevulinate synthase, erythroid-specific, mitochondrial
delta-ALA synthase 2
delta-ALA synthetase
5-aminolevulinic acid synthase 2
delta-aminolevulinate synthase 2
NP_000023.2
NP_001033056.1
NP_001033057.1

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 proteins identical to 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, OTTHUMP00000023388, ENST00000330807, OTTHUMT00000056843
    Conserved Domains (3) summary
    cd06454
    Location:189540
    Blast Score: 1368
    KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), ...
    TIGR00858
    Location:194536
    Blast Score: 802
    bioF; 8-amino-7-oxononanoate synthase
    pfam09029
    Location:1101
    Blast Score: 438
    Preseq_ALAS; 5-aminolevulinate synthase presequence
  2. NM_001037967.3NP_001033056.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b precursor

    See proteins identical to 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, OTTHUMP00000204081, ENST00000335854, OTTHUMT00000331578
    Conserved Domains (3) summary
    cd06454
    Location:152503
    Blast Score: 1364
    KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), ...
    TIGR00858
    Location:157499
    Blast Score: 800
    bioF; 8-amino-7-oxononanoate synthase
    pfam09029
    Location:1101
    Blast Score: 438
    Preseq_ALAS; 5-aminolevulinate synthase presequence
  3. NM_001037968.3NP_001033057.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c precursor

    See proteins identical to 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, OTTHUMP00000023389, ENST00000396198, OTTHUMT00000056844
    Conserved Domains (3) summary
    cd06454
    Location:176527
    Blast Score: 1367
    KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), ...
    TIGR00858
    Location:181523
    Blast Score: 802
    bioF; 8-amino-7-oxononanoate synthase
    pfam09029
    Location:25125
    Blast Score: 438
    Preseq_ALAS; 5-aminolevulinate synthase presequence

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11

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

mRNA and Protein(s)

  1. XM_005261995.1XP_005262052.1  

    See proteins identical to XP_005262052.1

    Conserved Domains (3) summary
    cd06454
    Location:213564
    Blast Score: 1371
    KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), ...
    TIGR00858
    Location:218560
    Blast Score: 805
    bioF; 8-amino-7-oxononanoate synthase
    pfam09029
    Location:25125
    Blast Score: 438
    Preseq_ALAS; 5-aminolevulinate synthase presequence

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    52086432..52108437, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.

Supplemental Content

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