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

Gene ID: 212, updated on 8-Jul-2021

Summary

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
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
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Genomic context

See ALAS2 in Genome Data Viewer
Location:
Xp11.21
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (55009055..55030977, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55035488..55057410, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene Sharpr-MPRA regulatory regions 2439 and 5762 Neighboring gene ALAS2 intronic erythroid enhancer Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene ALAS2 intron 1 and 3 erythroid regulatory elements Neighboring gene PAGE family member 2B Neighboring gene HDGFL3 pseudogene 1 Neighboring gene PAGE family member 2

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ93603

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5-aminolevulinate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 5-aminolevulinate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cellular iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in erythrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in erythrocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heme biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heme biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in hemoglobin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hemoglobin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oxygen homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5088..27010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1163

mRNA and Protein(s)

  1. NM_000032.5NP_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
    ENSP00000497236.1, ENST00000650242.1
    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_001037967.4NP_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, BQ182291
    Consensus CDS
    CCDS35303.1
    UniProtKB/Swiss-Prot
    P22557
    Related
    ENSP00000337131.4, ENST00000335854.8
    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_001037968.4NP_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, BQ182291
    Consensus CDS
    CCDS43960.1
    UniProtKB/Swiss-Prot
    P22557
    Related
    ENSP00000379501.3, ENST00000396198.7
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    55009055..55030977 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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