| Gene Information | |
|---|---|
| Gene Name | ALAS2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 587 |
| Protein Names | 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS-E) (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2) |
| Target Name | 5-aminolevulinate synthase, erythroid-specific, mitochondrial |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000158578 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | P22557 |
| Gene Card | ALAS2 |
| Uniprot ID | P22557 |
| Pfam | PF00155; PF09029 |
| In ASD | no |
| Allosteric Prediction | yes (0.905869738) |
| Ortholog in Animals | Alpaca_ ALAS2 ( ortholog_one2one ) Dog_ ALAS2 ( ortholog_one2one ) GuineaPig_ ALAS2 ( ortholog_one2one ) Macaque_ ALAS2 ( ortholog_one2one ) Mouse_ Alas2 ( ortholog_one2one ) Pig_ ALAS2 ( ortholog_one2one ) Rat_ Alas2 ( ortholog_one2one ) Rabbit_ ALAS2 ( ortholog_one2one ) |
| Ohnologs | ALAS1 |
| Paralogs | GCAT, SPTLC3, ALAS1, SPTLC2, SPTLC1 |
| Tissue | bone.marrow, placenta, whole.blood |
| Tissue Specificity | [Isoform 1]: Erythroid-specific. {ECO:0000269|PubMed:14643893, ECO:0000269|PubMed:2050125}.; [Isoform 2]: Erythroid-specific. {ECO:0000269|PubMed:14643893}.; [Isoform 3]: Erythroid-specific. {ECO:0000269|PubMed:14643893}.; [Isoform 4]: Erythroid-specific. {ECO:0000269|PubMed:14643893}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 5QQQ (X-ray 1.93A ) 5QQR (X-ray 1.46A ) 5QQS (X-ray 1.85A ) 5QQT (X-ray 1.67A ) 5QQU (X-ray 1.55A ) 5QQV (X-ray 1.52A ) 5QQW (X-ray 1.56A ) 5QQX (X-ray 1.50A ) 5QQY (X-ray 1.49A ) 5QQZ (X-ray 1.55A ) 5QR0 (X-ray 1.65A ) 5QR1 (X-ray 1.44A ) 5QR2 (X-ray 1.66A ) 5QR3 (X-ray 1.71A ) 5QR4 (X-ray 1.57A ) 5QR5 (X-ray 1.49A ) 5QR6 (X-ray 1.52A ) 5QR7 (X-ray 1.74A ) 5QR8 (X-ray 1.85A ) 5QR9 (X-ray 1.62A ) 5QRA (X-ray 1.72A ) 5QRB (X-ray 1.72A ) 5QRC (X-ray 1.82A ) 5QRD (X-ray 1.76A ) 5QRE (X-ray 1.67A ) 5QT3 (X-ray 1.95A ) 6HRH (X-ray 2.30A ) |
| DBSNP | rs137852308 rs137852301 rs137852310 rs1338391423 rs185504937 rs137852300 rs137852305 rs137852311 rs863223904 rs137852299 rs201062903 rs892041887 rs139596860 |
| Subcellular location [CC] | Mitochondrion inner membrane {ECO:0000269|PubMed:14643893}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the matrix side of the mitochondrion inner membrane. {ECO:0000269|PubMed:14643893}.; [Isoform 4]: Mitochondrion inner membrane {ECO:0000269|PubMed:14643893}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the matrix side of the mitochondrion inner membrane. {ECO:0000269|PubMed:14643893}. |
| Mouse PG classification | HPG |
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