• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20740 Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu20740C Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000187.3, 296010950
Length 1338 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.
Product homogentisate 1,2-dioxygenase
Comment

Summary: This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010].

RefSeq NP_000178.2
CDS 461..1798
Misc Feature(1)446..448
Misc Feature(2)467..1762
Misc Feature(3)467..1762
Misc Feature(4)752..754
Exon (1)1..475
Gene:HGD
Gene Synonym:AKU; HGO
Exon (2)476..547
Gene:HGD
Gene Synonym:AKU; HGO
Exon (3)548..636
Gene:HGD
Gene Synonym:AKU; HGO
Exon (4)637..742
Gene:HGD
Gene Synonym:AKU; HGO
Exon (5)743..802
Gene:HGD
Gene Synonym:AKU; HGO
Exon (6)803..894
Gene:HGD
Gene Synonym:AKU; HGO
Exon (7)895..929
Gene:HGD
Gene Synonym:AKU; HGO
Exon (8)930..1009
Gene:HGD
Gene Synonym:AKU; HGO
Exon (9)1010..1109
Gene:HGD
Gene Synonym:AKU; HGO
Exon (10)1110..1234
Gene:HGD
Gene Synonym:AKU; HGO
Exon (11)1235..1339
Gene:HGD
Gene Synonym:AKU; HGO
Exon (12)1340..1466
Gene:HGD
Gene Synonym:AKU; HGO
Exon (13)1467..1648
Gene:HGD
Gene Synonym:AKU; HGO
Exon (14)1649..2010
Gene:HGD
Gene Synonym:AKU; HGO
Translation MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSW LYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLC GAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEIC VIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVP GGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPG GGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLD ENYHKCWEPLKSHFTPNSRNPAEPN
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
9+dbSNP:
9+a, cdbSNP:142298361
11+a, cdbSNP:2733824
complement(78)-g, cdbSNP:148732655
122+c, tdbSNP:2733829
complement(254)-t, cdbSNP:147272996
complement(260)-t, cdbSNP:55661952
complement(280)-, gdbSNP:397875516
complement(341)-t, cdbSNP:191643714
complement(405)-c, adbSNP:371878850
complement(442)-g, adbSNP:376849236
complement(450)-t, cdbSNP:371972791
complement(457)-t, cdbSNP:368515284
complement(468)-t, gdbSNP:200412910
complement(492)-dbSNP:
complement(492)-t, cdbSNP:370453859
complement(580)-dbSNP:
complement(580)-g, adbSNP:369064890
complement(585)-t, gdbSNP:373921680
complement(589)-t, cdbSNP:142789485
complement(598)-t, cdbSNP:374495094
complement(600)-t, g, adbSNP:369517993
complement(602)-c, adbSNP:138846036
complement(618)-t, cdbSNP:200808744
complement(621)-t, cdbSNP:376541815
634+, adbSNP:397515517
complement(659)-dbSNP:
complement(659)-g, adbSNP:370003137
complement(681)-t, adbSNP:141965690
complement(691)-g, adbSNP:147017317
700+a, tdbSNP:2255543
complement(700)-t, adbSNP:386505110
complement(703)-t, gdbSNP:377043265
720+a, cdbSNP:35702995
complement(762)-dbSNP:
complement(762)-t, adbSNP:143267384
complement(800)-t, gdbSNP:201753011
complement(801)-g, cdbSNP:368344978
complement(820)-dbSNP:
complement(820)-g, c, adbSNP:149165166
complement(828)-t, cdbSNP:374473331
complement(832)-g, adbSNP:140977117
917..918+dbSNP:
917..918+, gdbSNP:397515346
complement(933)-dbSNP:
complement(933)-g, adbSNP:375396766
934+a, g, tdbSNP:2293734
941+a, gdbSNP:28941783
complement(947)-g, adbSNP:140543217
complement(961)-g, adbSNP:146878140
complement(962)-t, cdbSNP:375283568
complement(990)-t, cdbSNP:372293676
complement(1001)-t, cdbSNP:368256121
complement(1053)-dbSNP:
complement(1053)-t, cdbSNP:199536408
complement(1094)-t, cdbSNP:372084813
complement(1126)-dbSNP:
complement(1126)-g, cdbSNP:143942333
complement(1144)-t, cdbSNP:139840318
1148+c, tdbSNP:28942100
complement(1171)-t, gdbSNP:147204182
complement(1190)-t, cdbSNP:367751899
complement(1216)-t, cdbSNP:375952822
1268+dbSNP:
1268+a, gdbSNP:120074174
complement(1292)-t, cdbSNP:370920635
complement(1295)-t, gdbSNP:200382812
complement(1338)-t, gdbSNP:148641817
complement(1355)-dbSNP:
complement(1355)-t, cdbSNP:372420052
1359+g, tdbSNP:120074170
complement(1375)-g, adbSNP:144158342
complement(1379)-g, adbSNP:143556739
complement(1383)-g, cdbSNP:201529624
complement(1406)-c, adbSNP:199927284
complement(1424..1425)-, cdbSNP:34214309
complement(1429)-t, cdbSNP:376724242
complement(1436)-t, cdbSNP:143396290
complement(1439)-t, cdbSNP:372136565
1450+g, tdbSNP:120074171
complement(1468..1469)-dbSNP:
complement(1468..1469)-, cdbSNP:35952153
complement(1477)-c, adbSNP:139501220
complement(1538)-g, cdbSNP:368717991
1562+a, gdbSNP:120074173
1571..1572+, cdbSNP:397515516
1572+a, gdbSNP:120074172
complement(1578)-g, adbSNP:138558042
complement(1588)-g, cdbSNP:150145204
complement(1595)-g, cdbSNP:141753513
complement(1617)-g, adbSNP:371538956
complement(1636)-g, adbSNP:368805723
complement(1639)-g, adbSNP:146482816
complement(1649)-dbSNP:
complement(1649)-t, cdbSNP:373918530
complement(1651)-t, gdbSNP:137923025
complement(1666)-t, cdbSNP:140500816
complement(1681)-t, cdbSNP:146206905
complement(1697)-g, adbSNP:370401523
complement(1795)-g, adbSNP:187614203
complement(1796)-g, adbSNP:143370662
complement(1830)-t, cdbSNP:376051958
complement(1840)-t, cdbSNP:374327803
Gene SymbolHGD
Gene SynonymAKU; HGO
Chromosome3
Locus Map3q13.33
Title First report of HGD mutations in a Chinese with alkaptonuria .
Author Yang YJ, Guo JH, Chen WJ, Zhao R, Tang JS, Meng XH, Zhao L, Tu M, He XY, Wu LQ and Zhu YM.
Journal Gene 518 (2), 467-469 (2013)
Title Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria .
Author Laschi M, Tinti L, Braconi D, Millucci L, Ghezzi L, Amato L, Selvi E, Spreafico A, Bernardini G and Santucci A.
Journal J. Cell. Physiol. 227 (9), 3254-3257 (2012)
Title An update on molecular genetics of Alkaptonuria (AKU) .
Author Zatkova A.
Journal J. Inherit. Metab. Dis. 34 (6), 1127-1136 (2011)
Title The human homogentisate 1,2-dioxygenase (HGO) gene .
Author Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, Penalva MA and Rodriguez de Cordoba S.
Journal Genomics 43 (2), 115-122 (1997)
Title Molecular defects in alkaptonuria .
Author Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K and Kress W.
Journal Cytogenet. Cell Genet. 76 (1-2), 14-16 (1997)
Title The molecular basis of alkaptonuria .
Author Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA and Rodriguez de Cordoba S.
Journal Nat. Genet. 14 (1), 19-24 (1996)
Title Purification of the homogentisic acid oxidase from mammalian liver .
Author Hudecova S, Strakova Z and Krizanova O.
Journal Int. J. Biochem. Cell Biol. 27 (12), 1357-1363 (1995)
Title The human gene for alkaptonuria (AKU) maps to chromosome 3q .
Author Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guenet JL, Grimm T, Kress W and Muller CR.
Journal Genomics 19 (1), 5-8 (1994)
Title Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 .
Author Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG and Seidman CE.
Journal Nat. Genet. 5 (2), 201-204 (1993)
Title Alkaptonuria .
Author Introne,W.J. and Gahl,W.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.