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Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $557.67
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RefSeq Version NM_000688.5, 362999011
Length 2458 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product 5-aminolevulinate synthase, nonspecific, mitochondrial precursor
Comment

Summary: 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].


Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_000679.1
CDS 383..2305
Misc Feature(1)326..328
Misc Feature(2)326..328
Misc Feature(3)383..799
Misc Feature(4)383..799
Misc Feature(5)971..2152
Misc Feature(6)1109..2176
Misc Feature(7)order(1133..1135,1313..1321,1397..1399,1526..1528,
Misc Feature(8)order(1313..1321,1397..1399,1526..1528,1538..1540,
Misc Feature(9)1715..1717
Exon (1)1..173
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (2)174..350
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (3)351..581
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (4)582..809
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (5)810..959
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (6)960..1182
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (7)1183..1367
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (8)1368..1547
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (9)1548..1712
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (10)1713..1981
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (11)1982..2144
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Exon (12)2145..2452
Gene:ALAS1
Gene Synonym:ALAS; ALAS3; ALASH; MIG4
Translation MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA
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Position Chain Variation Link
68+dbSNP:
68+c, tdbSNP:146474312
87+a, gdbSNP:709315
350+c, tdbSNP:145651843
356+dbSNP:
356+c, tdbSNP:143432678
389+a, gdbSNP:150932815
400+c, tdbSNP:142401935
409+a, gdbSNP:145966605
420+a, gdbSNP:35338461
430+c, gdbSNP:144906218
498+c, tdbSNP:139865127
505+a, cdbSNP:182395582
509+c, tdbSNP:61729068
512+g, tdbSNP:61729067
515+a, cdbSNP:202007599
531+c, gdbSNP:151190937
575+a, gdbSNP:144022954
587+dbSNP:
587+a, gdbSNP:150778110
639+c, gdbSNP:145553963
652+c, gdbSNP:144563489
766+c, tdbSNP:111705267
790+a, gdbSNP:138392008
859+dbSNP:
859+c, tdbSNP:199507022
901+a, gdbSNP:352168
904+g, tdbSNP:199979607
907+a, cdbSNP:201457785
950+c, tdbSNP:147513353
971+dbSNP:
971+a, tdbSNP:144121026
1036+c, tdbSNP:201857497
1056+a, gdbSNP:149791967
1164+a, gdbSNP:145784344
1182+c, tdbSNP:144075472
1215+dbSNP:
1215+a, gdbSNP:143204062
1234+a, tdbSNP:111251324
1249+c, gdbSNP:151137611
1266+a, gdbSNP:150321206
1297+c, tdbSNP:189183702
1298+a, gdbSNP:140582251
1386+dbSNP:
1386+a, tdbSNP:186410635
1400+g, tdbSNP:201312610
1437+a, cdbSNP:78617635
1472+c, tdbSNP:199715564
1505+a, gdbSNP:143531630
1552+dbSNP:
1552+a, gdbSNP:144166227
1601+a, gdbSNP:148715618
1647+a, gdbSNP:201589905
1651+c, tdbSNP:141435391
1745+dbSNP:
1745+a, gdbSNP:144316660
1749+a, gdbSNP:17052017
1753+a, gdbSNP:187586746
1767+a, gdbSNP:113514076
1779+c, tdbSNP:146482105
1851+a, gdbSNP:201359123
1854+c, tdbSNP:202174005
1855+c, tdbSNP:200197258
1862+a, gdbSNP:149744677
1874+c, tdbSNP:142487265
1936+c, tdbSNP:140581739
1976+c, gdbSNP:138459596
1980+a, gdbSNP:200922726
2044+dbSNP:
2044+c, tdbSNP:150267990
2045+a, gdbSNP:138922632
2054+a, gdbSNP:144662414
2056+a, cdbSNP:142835980
2058+a, gdbSNP:184602790
2068+a, gdbSNP:190341217
2076+a, gdbSNP:139914359
2112+a, gdbSNP:150773131
2136+a, gdbSNP:200361165
2242+a, gdbSNP:199511435
Gene SymbolALAS1
Gene SynonymALAS; ALAS3; ALASH; MIG4
Chromosome3
Locus Map3p21.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $712.82
ORF Sequence $557.67
NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $661.49
ORF Sequence $557.67
Title Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells .
Author Ju,Y., Mizutani,T., Imamichi,Y., Yazawa,T., Matsumura,T., Kawabe,S., Kanno,M., Umezawa,A., Kangawa,K. and Miyamoto,K.
Journal Endocrinology 153 (11), 5522-5534 (2012)
Title Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 .
Author
Journal Nat. Genet. 43 (10), 977-983 (2011)
Title Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells .
Author Tian,Q., Li,T., Hou,W., Zheng,J., Schrum,L.W. and Bonkovsky,H.L.
Journal J. Biol. Chem. 286 (30), 26424-26430 (2011)
Title Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph .
Author Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M., Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P., Middeldorp,J.M. and de Sanjose,S.
Journal Haematologica 96 (2), 323-327 (2011)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids .
Author Cotter,P.D., Drabkin,H.A., Varkony,T., Smith,D.I. and Bishop,D.F.
Journal Cytogenet. Cell Genet. 69 (3-4), 207-208 (1995)
Title Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes .
Author Bishop,D.F.
Journal Nucleic Acids Res. 18 (23), 7187-7188 (1990)
Title Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis .
Author May,B.K., Bhasker,C.R., Bawden,M.J. and Cox,T.C.
Journal Mol. Biol. Med. 7 (5), 405-421 (1990)
Title Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome .
Author Bishop,D.F., Henderson,A.S. and Astrin,K.H.
Journal Genomics 7 (2), 207-214 (1990)
Title Sequence of human 5-aminolevulinate synthase cDNA .
Author Bawden,M.J., Borthwick,I.A., Healy,H.M., Morris,C.P., May,B.K. and Elliott,W.H.
Journal Nucleic Acids Res. 15 (20), 8563 (1987)

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