| Identification |
| HMDB Protein ID
| CDBP00017 |
| Secondary Accession Numbers
| Not Available |
| Name
| 5-aminolevulinate synthase, erythroid-specific, mitochondrial |
| Description
| Not Available |
| Synonyms
|
- 5-aminolevulinic acid synthase 2
- ALAS-E
- Delta-ALA synthase 2
- Delta-aminolevulinate synthase 2
|
| Gene Name
| ALAS2 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in 5-aminolevulinate synthase activity |
| Specific Function
| Not Available |
| GO Classification
|
| Biological Process |
| erythrocyte differentiation |
| hemoglobin biosynthetic process |
| response to hypoxia |
| small molecule metabolic process |
| oxygen homeostasis |
| heme biosynthetic process |
| protoporphyrinogen IX biosynthetic process |
| cellular iron ion homeostasis |
| Cellular Component |
| mitochondrial matrix |
| mitochondrial inner membrane |
| Component |
| cell part |
| intracellular part |
| cytoplasmic part |
| mitochondrial part |
| mitochondrial matrix |
| Function |
| transferase activity, transferring nitrogenous groups |
| cofactor binding |
| pyridoxal phosphate binding |
| n-acyltransferase activity |
| n-succinyltransferase activity |
| 5-aminolevulinate synthase activity |
| binding |
| catalytic activity |
| transferase activity |
| transferase activity, transferring acyl groups |
| transferase activity, transferring acyl groups other than amino-acyl groups |
| acyltransferase activity |
| Molecular Function |
| pyridoxal phosphate binding |
| 5-aminolevulinate synthase activity |
| glycine binding |
| coenzyme binding |
| Process |
| heterocycle biosynthetic process |
| tetrapyrrole biosynthetic process |
| metabolic process |
| nitrogen compound metabolic process |
| tetrapyrrole metabolic process |
| porphyrin metabolic process |
| biosynthetic process |
| cellular biosynthetic process |
|
| Cellular Location
|
- Mitochondrion matrix
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | protoporphyrin-IX biosynthesis | Not Available | Not Available | | Glycine, serine and threonine metabolism | Not Available |  | | Porphyrin and chlorophyll metabolism | Not Available |  |
|
| Gene Properties |
| Chromosome Location
| X |
| Locus
| Xp11.21 |
| SNPs
| ALAS2 |
| Gene Sequence
|
>1764 bp
ATGGTGACTGCAGCCATGCTGCTACAGTGCTGCCCAGTGCTTGCCCGGGGCCCCACAAGC
CTCCTAGGCAAGGTGGTTAAGACTCACCAGTTCCTGTTTGGTATTGGACGCTGTCCCATC
CTGGCTACCCAAGGACCAAACTGTTCTCAAATCCACCTTAAGGCAACAAAGGCTGGAGGA
GATTCTCCATCTTGGGCGAAGGGCCACTGTCCCTTCATGCTGTCGGAACTCCAGGATGGG
AAGAGCAAGATTGTGCAGAAGGCAGCCCCAGAAGTCCAGGAAGATGTGAAGGCTTTCAAG
ACAGATCTGCCTAGCTCCCTGGTCTCAGTCAGCCTAAGGAAGCCATTTTCCGGTCCCCAG
GAGCAGGAGCAGATCTCTGGGAAGGTCACACACCTGATTCAGAACAATATGCCTGGAAAC
TATGTCTTCAGTTATGACCAGTTTTTCAGGGACAAGATCATGGAGAAGAAACAGGATCAC
ACCTACCGTGTGTTCAAGACTGTGAACCGCTGGGCTGATGCATATCCCTTTGCCCAACAT
TTCTCTGAGGCATCTGTGGCCTCAAAGGATGTGTCCGTCTGGTGTAGTAATGATTACCTG
GGCATGAGCCGACACCCTCAGGTCTTGCAAGCCACACAGGAGACCCTGCAGCGTCATGGT
GCTGGAGCTGGTGGCACCCGCAACATCTCAGGCACCAGTAAGTTTCATGTGGAGCTTGAG
CAGGAGCTGGCTGAGCTGCACCAGAAGGACTCAGCCCTGCTCTTCTCCTCCTGCTTTGTT
GCCAATGACTCTACTCTCTTCACCTTGGCCAAGATCCTGCCAGGGTGCGAGATTTACTCA
GACGCAGGCAACCATGCTTCCATGATCCAAGGTATCCGTAACAGTGGAGCAGCCAAGTTT
GTCTTCAGGCACAATGACCCTGACCACCTAAAGAAACTTCTAGAGAAGTCTAACCCTAAG
ATACCCAAAATTGTGGCCTTTGAGACTGTCCACTCCATGGATGGTGCCATCTGTCCCCTC
GAGGAGTTGTGTGATGTGTCCCACCAGTATGGGGCCCTGACCTTCGTGGATGAGGTCCAT
GCTGTAGGACTGTATGGGTCCCGGGGCGCTGGGATTGGGGAGCGTGATGGAATTATGCAT
AAGATTGACATCATCTCTGGAACTCTTGGCAAGGCCTTTGGCTGTGTGGGCGGCTACATT
GCCAGCACCCGTGACTTGGTGGACATGGTGCGCTCCTATGCTGCAGGCTTCATCTTTACC
ACTTCTCTGCCCCCCATGGTGCTCTCTGGAGCTCTAGAATCTGTGCGGCTGCTCAAGGGA
GAGGAGGGCCAAGCCCTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTA
CTCATGGACAGGGGCCTTCCTGTCATCCCCTGCCCCAGCCACATCATCCCCATCCGGGTG
GGCAATGCAGCACTCAACAGCAAGCTCTGTGATCTCCTGCTCTCCAAGCATGGCATCTAT
GTGCAGGCCATCAACTACCCAACTGTCCCCCGGGGTGAAGAGCTCCTGCGCTTGGCACCC
TCCCCCCACCACAGCCCTCAGATGATGGAAGATTTTGTGGAGAAGCTGCTGCTGGCTTGG
ACTGCGGTGGGGCTGCCCCTCCAGGATGTGTCTGTGGCTGCCTGCAATTTCTGTCGCCGT
CCTGTACACTTTGAGCTCATGAGTGAGTGGGAACGTTCCTACTTCGGGAACATGGGGCCC
CAGTATGTCACCACCTATGCCTGA
|
| Protein Properties |
| Number of Residues
| 587 |
| Molecular Weight
| 64632.86 |
| Theoretical pI
| 8.116 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>5-aminolevulinate synthase, erythroid-specific, mitochondrial
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA
|
| External Links |
| GenBank ID Protein
| 3220249 |
| UniProtKB/Swiss-Prot ID
| P22557 |
| UniProtKB/Swiss-Prot Entry Name
| HEM0_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AF068624 |
| GeneCard ID
| ALAS2 |
| GenAtlas ID
| ALAS2 |
| HGNC ID
| HGNC:397 |
| References |
| General References
| Not Available |