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Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. Full Lenth $698.03
ORF Sequence $557.67


RefSeq Version NM_000688.4, 40316942
Length 2407 bp
Structure linear
Update Date 19-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA.
Product 5-aminolevulinate synthase, nonspecific, mitochondrial precursor
Comment

Summary: Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM].

RefSeq NP_000679.1
CDS 338..2260
Exon (1)1..128
Exon (2)1..128
Exon (3)129..305
Exon (4)306..536
Exon (5)537..764
Exon (6)765..914
Exon (7)915..1137
Exon (8)1138..1322
Exon (9)1323..1502
Exon (10)1503..1667
Exon (11)1668..1936
Exon (12)1937..2099
Exon (13)2100..2407
Translation MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA
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Position Chain Variation Link
complement(42)-g, adbSNP:709315
375+a, gdbSNP:35338461
464+c, tdbSNP:61729068
467+g, tdbSNP:61729067
662+a, cdbSNP:116765404
721+c, tdbSNP:111705267
complement(856)-g, adbSNP:352168
1189+a, tdbSNP:111251324
1392+a, cdbSNP:78617635
1505+, gdbSNP:34373571
1704+a, gdbSNP:17052017
1722+a, gdbSNP:113514076
2099+, largedeletiondbSNP:71812448
Gene SymbolALAS1
Gene SynonymALAS; ALAS3; ALASH; MIG4
Chromosome3
Locus Map3p21.1
All Transcripts NM_000688 , NM_199166
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 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title New genetic associations detected in a host response study to hepatitis B vaccine .
Author Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J., Snippe,H., Hibberd,M.L. and Seielstad,M.
Journal Genes Immun. 11 (3), 232-238 (2010)
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 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
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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