Accession: | NM_000688 |
---|---|
基因名称: | ALAS1 |
基因别名: | ALAS; MIG4; ALAS3; ALASH |
基因描述: | Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. |
种属: | Human |
CDS区长度: | 1923 |
翻译后氨基酸长度: | 640 |
Transcript Variant: | This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein. |
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
ATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATCCCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGGCA
AATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAAGCCAGCCCCTCGGGC
ATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACT
GCTAAGGCCAAGGTCCAACAGACTCCTGATGGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTG
GACACCCCTTGCCTGCCACAAGCCAGGGCACTGCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCA
GAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGAATGCCGTG
AGGAAAGAGGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCCA
GTGGACTGCTGAAGAACTTCCAGGACATCATGCAAAAGCAAAGACCAGAAAGAGTGTCTCATCTTCTTCA
AGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGATCGTTTCTTTGAGAAAAAAATTGATGAGAAA
AAGAATGACCACACCTATCGAGTTTTTAAAACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGATG
ACTATTCAGACTCCCTCATCACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTACCTAGGAATGAG
TCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTGGTACT
AGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTCCATGGGAAAG
ATGCCGCACTCTTGTTTTCCTCGTGCTTTGTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGAT
GCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCCTCCATGATCCAAGGGATTCGAAACAGCCGA
GTGCCAAAGTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCCT
CAGTCCCCAAGATTGTGGCATTTGAAACTGTCCATTCAATGGATGGGGCGGTGTGCCCACTGGAAGAGCT
GTGTGATGTGGCCCATGAGTTTGGAGCAATCACCTTCGTGGATGAGGTCCACGCAGTGGGGCTTTATGGG
GCTCGAGGCGGAGGGATTGGGGATCGGGATGGAGTCATGCCAAAAATGGACATCATTTCTGGAACACTTG
GCAAAGCCTTTGGTTGTGTTGGAGGGTACATCGCCAGCACGAGTTCTCTGATTGACACCGTACGGTCCTA
TGCTGCTGGCTTCATCTTCACCACCTCTCTGCCACCCATGCTGCTGGCTGGAGCCCTGGAGTCTGTGCGG
ATCCTGAAGAGCGCTGAGGGACGGGTGCTTCGCCGCCAGCACCAGCGCAACGTCAAACTCATGAGACAGA
TGCTAATGGATGCCGGCCTCCCTGTTGTCCACTGCCCCAGCCACATCATCCCTGTGCGGGTTGCAGATGC
TGCTAAAAACACAGAAGTCTGTGATGAACTAATGAGCAGACATAACATCTACGTGCAAGCAATCAATTAC
CCTACGGTGCCCCGGGGAGAAGAGCTCCTACGGATTGCCCCCACCCCTCACCACACACCCCAGATGATGA
ACTACTTCCTTGAGAATCTGCTAGTCACATGGAAGCAAGTGGGGCTGGAACTGAAGCCTCATTCCTCAGC
TGAGTGCAACTTCTGCAGGAGGCCACTGCATTTTGAAGTGATGAGTGAAAGAGAGAAGTCCTATTTCTCA
GGCTTGAGCAAGTTGGTATCTGCTCAGGCCTGA