| URN | urn:agi-llid:212 |
|---|---|
| Total Entities | 0 |
| Connectivity | 126 |
| Name | Alas2 |
| Description | aminolevulinate, delta-, synthase 2 |
| Notes | 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] |
| GO Molecular Function | catalytic activity |
|---|---|
| transferase activity | |
| transferase activity, transferring acyl groups | |
| 5-aminolevulinate synthase activity | |
| glycine binding | |
| pyridoxal phosphate binding | |
| coenzyme binding |
| GO Cellular Component | mitochondrial inner membrane |
|---|---|
| mitochondrial matrix | |
| mitochondrion |
| GO Biological Process | metabolic process |
|---|---|
| lactation | |
| female pregnancy | |
| erythrocyte differentiation | |
| small molecule metabolic process | |
| heme biosynthetic process | |
| protoporphyrinogen IX biosynthetic process | |
| cellular iron ion homeostasis | |
| response to drug | |
| response to lead ion | |
| response to hypoxia | |
| biosynthetic process | |
| tetrapyrrole biosynthetic process | |
| porphyrin-containing compound metabolic process | |
| hemoglobin biosynthetic process | |
| oxygen homeostasis |
| Pathway | heme biosynthetic pathway |
|---|
| Group | Tetrapyrroles biosynthesis |
|---|---|
| metabolic process | |
| lactation | |
| female pregnancy | |
| erythrocyte differentiation | |
| small molecule metabolic process | |
| heme biosynthetic process | |
| protoporphyrinogen IX biosynthetic process | |
| cellular iron ion homeostasis | |
| response to drug | |
| response to lead ion | |
| response to hypoxia | |
| biosynthetic process | |
| catalytic activity | |
| transferase activity | |
| transferase activity, transferring acyl groups | |
| 5-aminolevulinate synthase activity | |
| tetrapyrrole biosynthetic process | |
| porphyrin-containing compound metabolic process | |
| hemoglobin biosynthetic process | |
| oxygen homeostasis | |
| glycine binding | |
| pyridoxal phosphate binding | |
| coenzyme binding | |
| mitochondrial inner membrane | |
| mitochondrial matrix | |
| mitochondrion |
| LocusLink ID | 212 |
|---|---|
| 11656 | |
| 25748 |
| Cell Localization | Cytoplasm |
|---|---|
| Mitochondrion matrix |
| GO ID | 0003870 |
|---|---|
| 0050662 | |
| 0016594 | |
| 0030170 | |
| 0006879 | |
| 0030218 | |
| 0006783 | |
| 0042541 | |
| 0032364 | |
| 0006778 | |
| 0006782 | |
| 0001666 | |
| 0044281 | |
| 0005743 | |
| 0005759 | |
| 0005739 | |
| 0003824 | |
| 0016740 | |
| 0016746 | |
| 0009058 | |
| 0008152 | |
| 0033014 | |
| 0007565 | |
| 0007595 | |
| 0042493 | |
| 0010288 | |
| 0008415 | |
| 0005515 | |
| 0016769 | |
| 0020037 | |
| 0005625 |
| Alias | ASB |
|---|---|
| ANH1 | |
| XLSA | |
| ALASE | |
| XLDPP | |
| XLEPP | |
| ALAS-E | |
| RP5-884M20.1 | |
| 5-aminolevulinate synthase, erythroid-specific, mitochondrial | |
| delta-ALA synthase 2 | |
| delta-ALA synthetase | |
| 5-aminolevulinic acid synthase 2 | |
| delta-aminolevulinate synthase 2 | |
| ALAS | |
| Alas-2 | |
| RP23-338A17.1 | |
| erythroid-specific ALAS | |
| Aminolevulinate synthase 2, delta | |
| aminolevulinic acid synthase 2, erythroid | |
| erythroid-specific delta-aminolevulinate synthase ALAS-E | |
| erythroid delta-aminolevulinate synthase | |
| LOC158993 | |
| LOC139796 | |
| LOC115365 | |
| LOC113545 | |
| FLJ93603 | |
| FLJ12687 | |
| erythroid-specific delta-aminolevulinate synthetase ALAS-E | |
| erythroid ALAS | |
| LOC203568 | |
| Delta-aminolevulinate synthetase 2 | |
| Delta-aminolevulinate synthetase II | |
| erythroid-specific delta-aminolevulinate synthase | |
| succinyl-CoA:glycine C-succinyl transferase 2 | |
| Delta-aminolevulinate synthase II | |
| aminolevulinic acid synthase 2, erythroid-like | |
| X-linked pyridoxine-responsive sideroblastic anemia gene | |
| erythroid-specific mitochondrial 5-aminolevulinic acid synthetase | |
| erythroid-specific mitochondrial 5-aminolevulinic acid synthase | |
| LOC100363476 | |
| succinyl-CoA:glycine C-succinyltransferase 2 | |
| LOC90735 | |
| OTTMUSP00000020680 | |
| OTTMUSP00000020679 | |
| OTTHUMP00000023389 | |
| OTTHUMP00000023388 | |
| XLDPP gene | |
| aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) | |
| aminolevulinate, delta-, synthase 2 | |
| aminolevulinate synthetase II | |
| Aminolevulinate synthetase 2, delta | |
| aminolevulinate synthetase 2 | |
| Aminolevulinate, delta-, synthase II | |
| aminolevulinate synthase 2 | |
| 5-aminolevulinate synthetase, erythroid-specific, mitochondrial | |
| ALAS2 | |
| 5-aminolevulinic acid synthetase 2 | |
| aminolevulinate synthase II | |
| 4732479N06 | |
| aminolevulinate, delta-, synthetase 2 | |
| Delta-ALA synthetase II | |
| Delta-ALA synthetase 2 | |
| ANH I | |
| aminolevulinic acid synthetase II | |
| aminolevulinic acid synthase 2 | |
| aminolevulinate, delta-, synthetase 2 (sideroblastic/hypochromic anemia) | |
| aminolevulinic acid synthetase 2 | |
| aminolevulinic acid synthase II | |
| Aminolevulinate, delta-, synthetase II | |
| aminolevulinic acid synthetase 2, erythroid | |
| Delta-ALA synthase II | |
| 5-aminolevulinate synthase 2 | |
| 5-aminolevulinic acid synthase | |
| delta-aminolevulinate synthase | |
| 5-aminolevulinate synthase | |
| mitochondrial 5-aminolevulinic acid synthase, erythroid-specific precurso | |
| 4732479N06Rik | |
| Aminolevulinate, delta-, synthase-2 | |
| RIKEN cDNA 4732479N06 gene | |
| Delta-ALA synthetase II | |
| Delta-ALA synthetase 2 |
| Mouse chromosome position | X 68.46 cM |
|---|---|
| X 63.0 cM |
| OMIM ID | 301300 |
|---|---|
| 300751 | |
| 300752 |
| Rat chromosome position | Xq21 |
|---|
| Hugo ID | 397 |
|---|
| Human chromosome position | Xp11.21 |
|---|
| Swiss-Prot Accession | P22557 |
|---|---|
| A2AFM1 | |
| P08680 | |
| A2AFM0 | |
| Q63147 | |
| Q63895 | |
| A8K3F0 | |
| A8K6C4 | |
| Q13735 | |
| Q5JZF5 | |
| Q8N6H3 | |
| Q64452 | |
| Q9DCN0 | |
| Q6QNT2 | |
| Q86YM3 | |
| Q9H366 | |
| Q3TA47 | |
| Q3TNI1 | |
| Q8R1G3 | |
| Q642C1 | |
| Q9ESE3 |
| PIR ID | JX0278 |
|---|---|
| S16347 | |
| A29040 |
| Unigene ID | Hs.522666 |
|---|---|
| Hs.555936 | |
| Mm.302724 | |
| Rn.32517 | |
| Rn.226279 |
| KEGG ID | hsa:212 |
|---|---|
| mmu:11656 | |
| rno:25748 |
| Swiss-Prot ID | HEM0_RAT |
|---|---|
| HEM0_HUMAN | |
| HEM0_MOUSE | |
| A8K3F0_HUMAN | |
| A8K6C4_HUMAN | |
| Q5JZF5_HUMAN | |
| A2AFM0_MOUSE | |
| A2AFM1_MOUSE |
| EC Number | 2.3.1.37 |
|---|
| Ensembl ID | ENSG00000158578 |
|---|---|
| ENSP00000332369 | |
| ENST00000330807 | |
| ENSP00000337131 | |
| ENST00000335854 | |
| ENSP00000379501 | |
| ENST00000396198 | |
| ENSMUSG00000025270 | |
| ENSMUSP00000108335 | |
| ENSMUST00000112715 | |
| ENSMUSP00000066040 | |
| ENSMUST00000066337 |
| Homologene ID | 17 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 87990 |
|---|
| RGD ID | 2084 |
|---|
| MedScan ID | 212 |
|---|
| IPI ID | IPI00304949 |
|---|---|
| IPI00915312 | |
| IPI00657985 | |
| IPI00658179 | |
| IPI00135065 | |
| IPI00830589 | |
| IPI00205872 |