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Database:

Blast Method:

 
 


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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_000688.5, 362999011
Length 2458 bp
Structure linear
Update Date 06-APR-2014
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: 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)1109..2176
Misc Feature(6)1109..2152
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
82+c, tdbSNP:373873328
complement(87)-g, adbSNP:709315
350+c, tdbSNP:145651843
356+dbSNP:
356+c, tdbSNP:143432678
387+a, tdbSNP:368153991
389+a, gdbSNP:150932815
395+a, gdbSNP:374359979
400+c, tdbSNP:142401935
409+a, gdbSNP:145966605
420+a, gdbSNP:35338461
426+a, cdbSNP:368742565
430+c, gdbSNP:144906218
498+c, tdbSNP:139865127
complement(505)-c, adbSNP: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
598+a, gdbSNP:377569035
639+c, gdbSNP:145553963
652+c, gdbSNP:144563489
657+c, tdbSNP:370171958
689+a, gdbSNP:372617767
766+c, tdbSNP:111705267
790+a, gdbSNP:138392008
811+dbSNP:
811+a, gdbSNP:374184871
859+c, tdbSNP:199507022
866+g, tdbSNP:371351244
901+a, gdbSNP:386583371
complement(901)-g, adbSNP:352168
904+g, tdbSNP:199979607
907+a, cdbSNP:201457785
950+c, tdbSNP:147513353
971+dbSNP:
971+a, tdbSNP:144121026
1005+a, gdbSNP:367708093
1036+c, tdbSNP:201857497
1056+a, gdbSNP:149791967
1064+a, gdbSNP:371824032
1108+a, gdbSNP:373944392
1164+a, gdbSNP:145784344
1170+a, gdbSNP:368113214
1181+a, tdbSNP:371924643
1182+c, tdbSNP:144075472
1215+dbSNP:
1215+a, gdbSNP:143204062
1226+a, tdbSNP:375562725
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
1431+a, gdbSNP:374639455
complement(1437)-c, adbSNP:78617635
1452+a, gdbSNP:370237416
1472+c, tdbSNP:199715564
1505+a, gdbSNP:143531630
1507+c, gdbSNP:367967930
1542+c, tdbSNP:374159410
1550+dbSNP:
1550+, gdbSNP:34373571
1552+a, gdbSNP:144166227
1601+a, gdbSNP:148715618
1609+c, tdbSNP:368746086
1625+a, gdbSNP:371320771
1633+a, gdbSNP:375898725
1647+a, gdbSNP:201589905
1651+c, tdbSNP:141435391
1652+a, gdbSNP:373367148
1696+c, tdbSNP:374187673
1698+c, tdbSNP:376963140
1730+dbSNP:
1730+g, tdbSNP:372500669
1745+a, gdbSNP:144316660
1749+a, gdbSNP:17052017
1753+a, gdbSNP:187586746
1760+c, tdbSNP:377002690
1765+g, tdbSNP:370365062
1767+a, gdbSNP:113514076
1779+c, tdbSNP:146482105
1851+a, gdbSNP:201359123
1854+c, tdbSNP:202174005
1855+c, tdbSNP:200197258
1868+c, gdbSNP:374739206
1874+c, tdbSNP:142487265
1903+c, tdbSNP:368106581
1936+c, tdbSNP:140581739
1937+a, gdbSNP:370684990
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
2096+a, gdbSNP:370488703
2109+c, tdbSNP:374158465
2136+a, gdbSNP:200361165
2242+a, gdbSNP:199511435
2325+a, gdbSNP:376223208
2350+c, tdbSNP:370937010
2356+a, gdbSNP:375482359
Gene SymbolALAS1
Gene SynonymALAS; ALAS3; ALASH; MIG4
Chromosome3
Locus Map3p21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000688 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 1, mRNA. On-demand $849.00 20
NM_199166 Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant 2, mRNA. On-demand $849.00 20
XM_005264944 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X1, mRNA. On-demand $849.00 20
XM_005264945 PREDICTED: Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), transcript variant X2, mRNA. On-demand $849.00 20
Title Genome-wide association analysis identifies 13 new risk loci for schizophrenia .
Author Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K, Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N, de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P, Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB, Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E, Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P, Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R, Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA, Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A, Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG, Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S, McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
Journal Nat. Genet. 45 (10), 1150-1159 (2013)
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 LW and Bonkovsky HL.
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 JM and de Sanjose S.
Journal Haematologica 96 (2), 323-327 (2011)
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 PD, Drabkin HA, Varkony T, Smith DI and Bishop DF.
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 DF.
Journal Nucleic Acids Res. 18 (23), 7187-7188 (1990)
Title Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis .
Author May BK, Bhasker CR, Bawden MJ and Cox TC.
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 DF, Henderson AS and Astrin KH.
Journal Genomics 7 (2), 207-214 (1990)
Title Sequence of human 5-aminolevulinate synthase cDNA .
Author Bawden MJ, Borthwick IA, Healy HM, Morris CP, May BK and Elliott WH.
Journal Nucleic Acids Res. 15 (20), 8563 (1987)

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