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P08680 · HEM0_MOUSE

  • Protein
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
  • Gene
    Alas2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:3557128, PubMed:8268805).
Contributes significantly to heme formation during erythropoiesis (By similarity).

Catalytic activity

Cofactor

pyridoxal 5'-phosphate (UniProtKB | Rhea| CHEBI:597326 )

Pathway

Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.

Features

Showing features for binding site, active site.

Type
IDPosition(s)Description
Binding site163substrate
Binding site258pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners; in other chain
Binding site259pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners; in other chain
Binding site280substrate
Binding site299substrate
Binding site332pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners; in other chain
Binding site360pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners; in other chain
Binding site388pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners; in other chain
Active site391
Binding site420pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners
Binding site421pyridoxal 5'-phosphate (UniProtKB | ChEBI); ligand shared between dimeric partners
Binding site508substrate

GO annotations

AspectTerm
Cellular Componentmitochondrial inner membrane
Cellular Componentmitochondrial matrix
Cellular Componentmitochondrion
Molecular Function5-aminolevulinate synthase activity
Molecular Functionpyridoxal phosphate binding
Biological Processerythrocyte differentiation
Biological Processheme biosynthetic process
Biological Processhemoglobin biosynthetic process
Biological Processintracellular iron ion homeostasis
Biological Processprotoporphyrinogen IX biosynthetic process
Biological Processresponse to hypoxia

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
  • EC number
  • Short names
    ALAS-E
  • Alternative names
    • 5-aminolevulinic acid synthase 2
    • Delta-ALA synthase 2
    • Delta-aminolevulinate synthase 2

Gene names

    • Name
      Alas2

Organism names

  • Taxonomic identifier
  • Strains
    • DBA/2J
    • C57BL/6J
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus

Accessions

  • Primary accession
    P08680
  • Secondary accessions
    • Q64452
    • Q9DCN0

Proteomes

Organism-specific databases

Subcellular Location

Mitochondrion inner membrane
; Peripheral membrane protein
Mitochondrion
Note: Localizes to the matrix side of the mitochondrion inner membrane.

Keywords

Phenotypes & Variants

Features

Showing features for mutagenesis.

TypeIDPosition(s)Description
Mutagenesis391Abolishes enzyme activity.

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 45 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

PTM/Processing

Features

Showing features for transit peptide, chain, modified residue.

Type
IDPosition(s)Description
Transit peptide1-49Mitochondrion
ChainPRO_000000122450-5875-aminolevulinate synthase, erythroid-specific, mitochondrial
Modified residue391N6-(pyridoxal phosphate)lysine

Proteomic databases

PTM databases

Expression

Tissue specificity

Predomnantly expressed in erythroid cells.

Gene expression databases

Interaction

Subunit

Homodimer. Interacts with SUCLA2.

Protein-protein interaction databases

Miscellaneous

Family & Domains

Domain

C-terminus is a mobile self-inhibitory loop which interferes directly with active site.

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.
  • Length
    587
  • Mass (Da)
    64,753
  • Last updated
    2002-01-23 v3
  • MD5 Checksum
    7956226253FB74EB8E006971116BCD34
MVAAAMLLRSCPVLSQGPTGLLGKVAKTYQFLFSIGRCPILATQGPTCSQIHLKATKAGGDSPSWAKSHCPFMLSELQDRKSKIVQRAAPEVQEDVKTFKTDLLSTMDSTTRSHSFPSFQEPEQTEGAVPHLIQNNMTGSQAFGYDQFFRDKIMEKKQDHTYRVFKTVNRWANAYPFAQHFSEASMASKDVSVWCSNDYLGISRHPRVLQAIEETLKNHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKLLPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPGHLKKLLEKSDPKTPKIVAFETVHSMDGAICPLEELCDVAHQYGALTFVDEVHAVGLYGARGAGIGERDGIMHKLDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGFPVIPCPSHIIPIRVGNAALNSKICDLLLSKHSIYVQAINYPTVPRGEELLRLAPSPHHSPQMMENFVEKLLLAWTEVGLPLQDVSVAACNFCHRPVHFELMSEWERSYFGNMGPQYVTTYA

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
A2AFM1A2AFM1_MOUSEAlas2572

Sequence caution

The sequence AAA37207.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for sequence conflict.

TypeIDPosition(s)Description
Sequence conflict61-75in Ref. 1; AAA37207
Sequence conflict66in Ref. 3; BAB22254
Sequence conflict171in Ref. 2; AAA91866
Sequence conflict338in Ref. 2; AAA91866
Sequence conflict368-372in Ref. 2; AAA91866
Sequence conflict427in Ref. 1; AAA37207
Sequence conflict479in Ref. 2; AAA91866

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
M15268
EMBL· GenBank· DDBJ
AAA37207.1
EMBL· GenBank· DDBJ
mRNA Different initiation
M63244
EMBL· GenBank· DDBJ
AAA91866.1
EMBL· GenBank· DDBJ
mRNA
AK002642
EMBL· GenBank· DDBJ
BAB22254.1
EMBL· GenBank· DDBJ
mRNA
AK077610
EMBL· GenBank· DDBJ
BAC36898.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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