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Gene Model: Mccc1

NomenclatureGenomic Location
SymbolMccc1Chromosome2
NameMethylcrotonoyl-Coenzyme A
carboxylase 1		Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 13 Mbp

Molecular Function

ATP + 3-methylcrotonoyl-CoA + HCO3- = ADP + phosphate + 3-methylglutaconyl-CoA.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding

catalytic activity
   ligase activity
      ligase activity, forming carbon-carbon bonds
         biotin carboxylase activity

Human Disease Association

Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]. MCC1 deficiency is an autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

Predicted Transcript
     1 AGAAAATGGATTTGGGTAACAAGAGCCAGAAATTATGCATCTGCAACTGGACGAAGTAAT
    61 ATTGAGAAGGTCCTTGTTGCAAATCGAGGTGAAATAGCATGCAGAGTAATGCGGACAGCT
   121 AGGAAGATGGGAGTGAAGTCAGTGGCCGTTTACAGTGATGCTGACAGGAACTCAATGCAC
   181 GTGGCAATGGCAGATGAAGCATATTGCATTGGTCCAGCACCATCTCAGCAGAGCTATTTG
   241 GCCATGGAAAAGATAATGCAGGTGGCCAAAAAATCAGCAGCACAGGCCGTCCACCCAGGC
   301 TATGGCTTCCTCTCGGAAAACACTGAATTTGCAGAACTCTGCAACCAAGAAGGAATCGTT
   361 TTTATAGGACCCCCTTCATCTGCTATCAGAGATATGGGCATTAAGAGCACTTCCAAGGCC
   421 ATTATGTCCGCTGCTGGGGTTCCTGTGGTCGAAGGCTATCATGGTGAAGATCAATCTGAC
   481 AAGTGGTTGGAAGAGCAAGCCAGAAGGATTGGATATCCAGTCATGATCAAAGCAGTGCGA
   541 GGAGGTGGAGGAAAGGGTATGAGGATTGCTCTTTCAGATAAAGAATTTCAGGAACAATTA
   601 GAATCAGCCAGGAGAGAAGCAAAGAAGTCTTTCAACGATGATGCCATGTTGATAGAGAAG
   661 TTTGTAGATAATCCAAGGCATGTAGAAGTTCAAGTGTTTGGAGATCACCATGGCAATGCA
   721 GTCTACCTGTTTGAAAGAGACTGCAGTGTACAGAGAAGGCATCAGAAGATTATTGAGGAA
   781 GCTCCTGGGCCAGGAATTACACCTGACGTGCGACGGAAACTTGGAGAAGCAGCTGTAAAG
   841 GCAGCTAAAGCTGTGAATTACGTTGGAGCAGGAACTGTGGAATTTATAATGGATCGTGAA
   901 CATAACTTTTATTTCATGGAAATGAACACCAGGCTGCAAGTGGAGCACCCAGTTACAGAA
   961 ATGATTACAGGGACAGACTTAGTGGAGTGGCAGCTGAAGATTGCTGCGGGAGAGAAGATT-
  1021 CCTTTGACTCAGGAAGAGATCTTGCTCAAGGGCCATGCCTTTGAAGCCAGGATCTATGCT
  1081 GAAGATCCAGATAATAATTTCATGCCAGGGGCTGGACCCTTATTGCATTTGTCTACACCG
  1141 CCTTCTGATAGCTGTACCAGGATAGAAACTGGGGTAAGACAAGGGGATGAGGTTTCCATA
  1201 CATTATGACCCAATGATTGCTAAATTGGTTGTCTGGGCTGAGGATCGTCAAGCGGCTTTG
  1261 AGGAAATTAAGATATTGCCTTCAACAATATAATATTGTAGGGCTGAACACTAATGTTAAT
  1321 TTCTTATTGAATCTTGCGGGCCACCCAGAGTTTGAAGCCGGAAATGTTCACACCAGTTTT
  1381 ATCCCTCAACATTGCGATGAGCTCTTTCCAGCCAAAGGAGCCATATCAAAGGCATCCTTG
  1441 TGTCAGGCAGCTCTTGGACTCATCCTGAGAGAGAAAATGATGACAGATACTTTCAGGCTT
  1501 CAGTCAGAAGATAAGTTCTCCCCATTTGCATCCAGCAGTGGTAGAAGACTAAACATACCT
  1561 TACATTAGAAACTTGACTCTTCTAGATGGTGAAAATAATGTGAATATGACTGTTACCTAC
  1621 AATCATGATGGATCATACAACATGCAGATACAGGACCAGTCTTTCCATGTTTCTGGAAGT
  1681 GTTTCAAGCGATGGTGGTTCAGATTACATAATATGTTCAGTAAATGGAGTTATTTGTAAA
  1741 TCCATGATAGTAATTTTGGACAATTCCATTCACCTCTTCTCACCGGAAGGCAGTGAGCGG
  1801 ATTGGTCTTCCTTTGCCAAAATACCTCTCTGGAACAAGTGCCATGGGAGATCAGGGTGGG
  1861 GCTGTGGCCCCTATGACAGGGACAATAGAAAAGGTGTTTGTGAAAGCCGGGGATAAAGTT
  1921 CAGGTTGGAGACCCATTAATGGTTATGATAGCGATGAAAATGGAGCACACCATTCGTGCC
  1981 CCAAAAGCAGGGATCATAAAGAAGGTTCTTTATCAGGAAGGATCGCAGGCCAACAGACAT
  2041 GCTCCACTAGTTGAGTTAGTGGAAGAAGAATTGGAATCAAAATAA

Predicted Protein Product
RKWIWVTRARNYASATGRSNIEKVLVANRGEIACRVMRTARKMGVKSVAVYSDADRNSMH
VAMADEAYCIGPAPSQQSYLAMEKIMQVAKKSAAQAVHPGYGFLSENTEFAELCNQEGIV
FIGPPSSAIRDMGIKSTSKAIMSAAGVPVVEGYHGEDQSDKWLEEQARRIGYPVMIKAVR
GGGGKGMRIALSDKEFQEQLESARREAKKSFNDDAMLIEKFVDNPRHVEVQVFGDHHGNA
VYLFERDCSVQRRHQKIIEEAPGPGITPDVRRKLGEAAVKAAKAVNYVGAGTVEFIMDRE
HNFYFMEMNTRLQVEHPVTEMITGTDLVEWQLKIAAGEKIPLTQEEILLKGHAFEARIYA
EDPDNNFMPGAGPLLHLSTPPSDSCTRIETGVRQGDEVSIHYDPMIAKLVVWAEDRQAAL
RKLRYCLQQYNIVGLNTNVNFLLNLAGHPEFEAGNVHTSFIPQHCDELFPAKGAISKASL
CQAALGLILREKMMTDTFRLQSEDKFSPFASSSGRRLNIPYIRNLTLLDGENNVNMTVTY
NHDGSYNMQIQDQSFHVSGSVSSDGGSDYIICSVNGVICKSMIVILDNSIHLFSPEGSER
IGLPLPKYLSGTSAMGDQGGAVAPMTGTIEKVFVKAGDKVQVGDPLMVMIAMKMEHTIRA
PKAGIIKKVLYQEGSQANRHAPLVELVEEELESK
Protein Alignment to Mouse
sp|Q99MR8|MCCA_MOUSE Methylcrotonoyl-CoA carboxylase subunit alpha,
            mitochondrial OS=Mus musculus GN=Mccc1 PE=2 SV=2
      MGI:1919289 Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) (Chr 3)
        Length = 717

 Score = 2723 (963.6 bits), Expect = 4.9e-286, Sum P(2) = 4.9e-286
 Identities = 519/682 (76%), Positives = 581/682 (85%)

Query:     1 RKWIWVTRARNYASATGRSNIEKVLVANRGEIACRVMRTARKMGVKSVAVYSDADRNSMH 60
             R+W W  R   Y +  G S I KVL+ANRGEIACRV+RTA+KMGV+SVAVYS+ADRNSMH
Sbjct:    26 REWAWKLRTMKYGTTPGGS-ITKVLIANRGEIACRVIRTAKKMGVQSVAVYSEADRNSMH 84

Query:    61 VAMADEAYCIGPAPSQQSYLAMEKIMQVAKKSAAQAVHPGYGFLSENTEFAELCNQEGIV 120
             V MADEAY IGPAPSQQSYLAMEKI+QVAK SAAQA+HPGYGFLSEN EFAELC QEGI+
Sbjct:    85 VDMADEAYSIGPAPSQQSYLAMEKIIQVAKSSAAQAIHPGYGFLSENMEFAELCKQEGII 144

Query:   121 FIGPPSSAIRDMGIKSTSKAIMSAAGVPVVEGYHGEDQSDKWLEEQARRIGYPVMIKAVR 180
             FIGPPSSAIRDMGIKSTSK+IM+AAGVPVVEGYHG+DQSD+ L E A +IGYPVMIKAVR
Sbjct:   145 FIGPPSSAIRDMGIKSTSKSIMAAAGVPVVEGYHGKDQSDQCLREHAGKIGYPVMIKAVR 204

Query:   181 GGGGKGMRIALSDKEFQEQLESARREAKKSFNDDAMLIEKFVDNPRHVEVQVFGDHHGNA 240
             GGGGKGMRI  S++EFQEQLESARREAKKSFNDDAMLIEKFVD PRHVEVQVFGDHHGNA
Sbjct:   205 GGGGKGMRIVRSEREFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNA 264

Query:   241 VYLFERDCSVQRRHQKIIEEAPGPGITPDVRRKLGEXXXXXXXXXNYVGAGTVEFIMDRE 300
             VYLFERDCSVQRRHQKIIEEAP PGI P+VRRKLGE          YVGAGTVEFIMD  
Sbjct:   265 VYLFERDCSVQRRHQKIIEEAPAPGINPEVRRKLGEAAVRAAKAVKYVGAGTVEFIMDSR 324

Query:   301 HNFYFMEMNTRLQVEHPVTEMITGTDLVEWQLKIAAGEKIPLTQEEILLKGHAFEARIYA 360
             HNFYFMEMNTRLQVEHPVTEMITGTDLVEWQL+IAAGEKIPL+QEEI L+GHAFEARIYA
Sbjct:   325 HNFYFMEMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEIPLQGHAFEARIYA 384

Query:   361 EDPDNNFMPGAGPLLHLSTPPSDSCTRIETGVRQGDEVSIHYDPMIAKLVVWAEDRQAAL 420
             EDPDNNFMPGAGPL+HLSTP +D  TRIETGVRQGDEVS+HYDPMIAKLVVWA DRQ+AL
Sbjct:   385 EDPDNNFMPGAGPLVHLSTPSADMSTRIETGVRQGDEVSVHYDPMIAKLVVWASDRQSAL 444

Query:   421 RKLRYCLQQYNIVGLNTNVNFLLNLAGHPEFEAGNVHTSFIPQHCDELFPAKGAISKASL 480
              KLRYCL QYNIVGL +NV+FLL L+GHPEFEAGNVHT FIPQH  +L P+   I+K S+
Sbjct:   445 SKLRYCLHQYNIVGLRSNVDFLLRLSGHPEFEAGNVHTDFIPQHHKDLLPSHSTIAKESV 504

Query:   481 CQAALGLILREKMMTDTFRLQSEDKFSPFASSSGRRLNIPYIRNLTLLDGENNVNMTVTY 540
             CQAALGLIL+EK MT  F+L ++D+FSPF+ SSGRRLNI Y RN+TL  G++++ + VTY
Sbjct:   505 CQAALGLILKEKEMTSAFKLHTQDQFSPFSFSSGRRLNISYTRNMTLRSGKSDIVIAVTY 564

Query:   541 NHDGSYNMQIQDQSFHXXXXXXXXXXXXYIICSVNGVICKSMIVILDNSIHLFSPEGSER 600
             N DGSY+MQI ++SF             Y+  S+NGV  KS  ++LDN++HLFS EGS  
Sbjct:   565 NRDGSYDMQIDNKSFRVLGDLSSEDGCTYLKSSINGVARKSKFILLDNTVHLFSMEGSIE 624

Query:   601 IGLPLPKYLSGTSAMGDQGGAVAPMTGTIEKVFVKAGDKVQVGDPLMVMIAMKMEHTIRA 660
             +G+P+PKYLS  SA G QGG +APMTGTIEKVFVKAGD+V+ GD LMVMIAMKMEHTI+A
Sbjct:   625 VGIPVPKYLSPVSAEGAQGGTIAPMTGTIEKVFVKAGDRVKAGDSLMVMIAMKMEHTIKA 684

Query:   661 PKAGIIKKVLYQEGSQANRHAP 682
             PK G IKKV + EG+QANRHAP
Sbjct:   685 PKDGRIKKVFFSEGAQANRHAP 706

 Score = 42 (19.8 bits), Expect = 4.9e-286, Sum P(2) = 4.9e-286
 Identities = 10/25 (40%), Positives = 13/25 (52%)

Query:   623 APMTGTIEKVFVKAGDKVQVGDPLM 647
             AP  G I+KVF   G +     PL+
Sbjct:   684 APKDGRIKKVFFSEGAQANRHAPLV 708