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Gene Model: Hgd

NomenclatureGenomic Location
SymbolHgdChromosomeX
NameHomogentisate 1,2-dioxygenaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesX: 41 Mbp

Molecular Function

Homogentisate + O2 = 4-maleylacetoacetate.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   oxidoreductase activity
      dioxygenase activity

Human Disease Association

Defects in HGD are the cause of alkaptonuria (AKU) [MIM:203500]. AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

Predicted Transcript
     1 CTTTTTGTTTTGCAGTATATGTCAGGATTTGGTAATGAGCATAGCTCTGAAGACCCCCGC
    61 TGTCCCGGAGCTTTGCCAGAAGGACAGATAGGAACTGGAAATAATCCCATCCTTCAACTC
   121 CCAGAAATCCTAACAGCTGGTAAACTGGCTGGGATTTCTGGGAGTTGTAGGCCAAACACC
   181 TGGGGACCCACAGGTTGGATGTACAGGATTCTGCCATCTGTTTGTCATAAGCCCTTTCAA
   241 CCTGTGGATCAAGGTTATCTGACACATAACTGGGATGAAGCTGAGCCGGAGCCTAATCAG
   301 CTGCGATGGAAACCTTTTGAGATCCCAATAACAACGCAGAGAAAAGTGGACTTTGTAACT
   361 GGATTGCACACTTTGTGTGGTGCTGGTGAGCCCAGATCTCGGAATGGGCTTGCGATCCAC
   421 GTCTTTACCTGTAACACCTCCATGTCCAACAGCTGTTTTTACAATTCTGATGGAGACTTT
   481 CTGATTGTACCACAGCAAGGAGAGTTGTTAATAACTACAGAGTTTGGAAAGTTGTTGGTG
   541 GAGCCCAATGAAATCTGTGTCATTCAGCAAGGGATGCGATTTAGTGTAGAAGTATCTGGA
   601 GAAACTCGGGGCTATGTCTTGGAAGTATATGGTGTACATTTTGAGCTGCCTGACTTGGGA
   661 CCTATTGGAGCCAATGGCTTGGCTAATCCACGTGATTTCCTTGTGCCCGTGGCCTGGTAT
   721 GAAGATCGGCAAGTAGCTGGGGGTTATACCATCATCAACAAGTACCTGGGGAAACTCTTT
   781 GCAGCACAGCAGAACTGCTCTCCATTCAATGTTGTAGCCTGGCATGGAAACTACACCCCA
   841 TACAAGTACAACCTCAGCAATTTTATGGTTATAAATTCTGTGGCTTTTGACCATGCAGAT
   901 CCCTCTATCTTCACCGTCTTAACTGCAAAGTCAACTCGTCCTGGAGTGGCAGTTGCTGAT
   961 TTTGTTATATTTCCACCCCGCTGGGGAGTGGCAACCAATACTTTCCGTCCACCTTATTAC
  1021 CACAGAAACTGCATGAGTGAGTTTATGGGCTTAATCAAAGGAACATATGAGGCGAAGGAA
  1081 CAAGGATTTCTACCTGGAGGTGGCACTCTGCATAGTATGATGACACCTCATGGGCCAGAT
  1141 GCTGTCTGTTTTGAGAAAGCAAGTACCAGCAAGCTACAGCCTGAGAGAGTTGCAGAGGGA
  1201 ACTATGGCCTTCATGTTTGAGACTTCTTTTAACTTGGCTCTCACCAACTGGGCTCTGAAA
  1261 ACCAGCCTGGACAAGAGCTACTACAAGTGCTGGGAATCACTGAAGAGCCATTTTAATGCA
  1321 AAACACAAGAATAAAACAAAACCACAT

Predicted Protein Product
LFVLQYMSGFGNEHSSEDPRCPGALPEGQIGTGNNPILQLPEILTAGKLAGISGSCRPNT
WGPTGWMYRILPSVCHKPFQPVDQGYLTHNWDEAEPEPNQLRWKPFEIPITTQRKVDFVT
GLHTLCGAGEPRSRNGLAIHVFTCNTSMSNSCFYNSDGDFLIVPQQGELLITTEFGKLLV
EPNEICVIQQGMRFSVEVSGETRGYVLEVYGVHFELPDLGPIGANGLANPRDFLVPVAWY
EDRQVAGGYTIINKYLGKLFAAQQNCSPFNVVAWHGNYTPYKYNLSNFMVINSVAFDHAD
PSIFTVLTAKSTRPGVAVADFVIFPPRWGVATNTFRPPYYHRNCMSEFMGLIKGTYEAKE
QGFLPGGGTLHSMMTPHGPDAVCFEKASTSKLQPERVAEGTMAFMFETSFNLALTNWALK
TSLDKSYYKCWESLKSHFNAKHKNKTKPH
Protein Alignment to Mouse
sp|O09173|HGD_MOUSE Homogentisate 1,2-dioxygenase OS=Mus musculus GN=Hgd PE=1
            SV=2
      MGI:96078 Hgd homogentisate 1, 2-dioxygenase (Chr 16)
        Length = 445

 Score = 1828 (648.5 bits), Expect = 2.9e-189, P = 2.9e-189
 Identities = 329/447 (73%), Positives = 386/447 (86%)

Query:     4 LQYMSGFGNEHSSEDPRCPGALPEGQIGTGNNPILQLPEILTAGKLAGISGSCRPNTWGP 63
             L+Y+SGFGNE +SEDPRCPG+LP+GQ    NNP +  P  L A +L+G + +C  NT   
Sbjct:     4 LKYISGFGNECASEDPRCPGSLPKGQ----NNPQV-CPYNLYAEQLSGSAFTCPRNT-NK 57

Query:    64 TGWMYRILPSVCHKPFQPVDQGYLTHNWDEAEPEPNQLRWKPFEIPITTQRKVDFVTGLH 123
               W+YRILPSV HKPF+ +DQG++THNWDE  P+PNQLRWKPFEIP  +++KVDFV+GL+
Sbjct:    58 RSWLYRILPSVSHKPFESIDQGHVTHNWDEVGPDPNQLRWKPFEIPKASEKKVDFVSGLY 117

Query:   124 TLCGAGEPRSRNGLAIHVFTCNTSMSNSCFYNSDGDFLIVPQQGELLITTEFGKLLVEPN 183
             TLCGAG+ +S NGLA+H+F CN+SM N CFYNSDGDFLIVPQ+G+LLI TEFGK+ ++PN
Sbjct:   118 TLCGAGDIKSNNGLAVHIFLCNSSMENRCFYNSDGDFLIVPQKGKLLIYTEFGKMSLQPN 177

Query:   184 EICVIQQGMRFSVEVSGETRGYVLEVYGVHFELPDLGPIGANGLANPRDFLVPVAWYEDR 243
             EICVIQ+GMRFSV+V  ETRGY+LEVYGVHFELPDLGPIGANGLANPRDFL+PVAWYEDR
Sbjct:   178 EICVIQRGMRFSVDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPVAWYEDR 237

Query:   244 QVAGGYTIINKYLGKLFAAQQNCSPFNVVAWHGNYTPYKYNLSNFMVINSVAFDHADPSI 303
             +V GGYT+INK+ GKLFA +Q+ SPFNVVAWHGNYTPYKYNL NFMVIN+VAFDHADPSI
Sbjct:   238 RVPGGYTVINKFQGKLFACKQDVSPFNVVAWHGNYTPYKYNLENFMVINAVAFDHADPSI 297

Query:   304 FTVLTAKSTRPGVAVADFVIFPPRWGVATNTFRPPYYHRNCMSEFMGLIKGTYEAKEQGF 363
             FTVLTAKS RPGVA+ADFVIFPPRWGVA  TFRPPYYHRNCMSEFMGLIKG YEAK+ GF
Sbjct:   298 FTVLTAKSLRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIKGHYEAKQGGF 357

Query:   364 LPGGGTLHSMMTPHGPDAVCFEKASTSKLQPERVAEGTMAFMFETSFNLALTNWALKTS- 422
             LPGGG+LHS MTPHGPDA CFEKAS +KL+PER+A+GTMAFMFE+S +LA+T W LKT  
Sbjct:   358 LPGGGSLHSAMTPHGPDADCFEKASKAKLEPERIADGTMAFMFESSLSLAVTKWGLKTCS 417

Query:   423 -LDKSYYKCWESLKSHFNAKHKNKTKP 448
              LD++YYKCWE L+SHF    ++ T+P
Sbjct:   418 CLDENYYKCWEPLRSHFTPNSRSPTEP 444