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 |
hemoglobin biosynthetic process |
response to hypoxia |
small molecule metabolic process |
oxygen homeostasis |
heme biosynthetic process |
protoporphyrinogen IX biosynthetic process |
cellular iron ion homeostasis |
erythrocyte differentiation |
Cellular Component |
mitochondrial matrix |
mitochondrial inner membrane |
Component |
cell part |
intracellular part |
cytoplasmic part |
mitochondrial part |
mitochondrial matrix |
Function |
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 |
transferase activity, transferring nitrogenous groups |
Molecular Function |
pyridoxal phosphate binding |
5-aminolevulinate synthase activity |
glycine binding |
coenzyme binding |
Process |
tetrapyrrole biosynthetic process |
metabolic process |
nitrogen compound metabolic process |
tetrapyrrole metabolic process |
porphyrin metabolic process |
biosynthetic process |
cellular biosynthetic process |
heterocycle 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 |