KEGG   Homo sapiens (human): 56922
Entry
56922             CDS       T01001                                 

Gene name
MCCC1, MCC-B, MCCA
Definition
(RefSeq) methylcrotonoyl-CoA carboxylase 1
  KO
K01968  3-methylcrotonyl-CoA carboxylase alpha subunit [EC:6.4.1.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa01100  Metabolic pathways
Module
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00833  HMGCL deficiency in leucine degradation
N00834  AUH deficiency in leucine degradation
N00835  MCCC1 deficiency in leucine degradation
N00851  Leucine degradation
Disease
H00181  3-Methylcrotonylglycinuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    56922 (MCCC1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.4  Forming carbon-carbon bonds
   6.4.1  Ligases that form carbon-carbon bonds (only sub-subclass identified to date)
    6.4.1.4  methylcrotonoyl-CoA carboxylase
     56922 (MCCC1)
SSDB
Motif
Pfam: CPSase_L_D2 Biotin_carb_N Biotin_carb_C Biotin_lipoyl Dala_Dala_lig_C ATP-grasp Biotin_lipoyl_2 ATP-grasp_3 RimK ATPgrasp_ST ATP-grasp_4 GARS_A RnfC_N HlyD_D23 NQRA MCCA_BT DUF2118 2OG-FeII_Oxy_2
Other DBs
NCBI-GeneID: 56922
NCBI-ProteinID: NP_064551
OMIM: 609010
HGNC: 6936
Ensembl: ENSG00000078070
Vega: OTTHUMG00000158355
Pharos: Q96RQ3(Tbio)
UniProt: Q96RQ3 A0A0S2Z693
Structure
PDB: 
2EJM

Position
3q27.1
AA seq 725 aa
MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEI
ACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTS
AAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEG
YHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFN
DDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQL
RIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV
RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFE
AGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSS
SGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKV
FVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESD
KRESE
NT seq 2178 nt   +upstreamnt  +downstreamnt
atggcggcggcctctgcggtgtcggtgctgctggtggcggcggagaggaaccggtggcat
cgtctcccgagcctgctcctgccgccgaggacatgggtgtggaggcaaagaaccatgaag
tacacaacagccacaggaagaaacattaccaaggtcctcattgcaaacagaggagaaatt
gcctgcagggtgatgcgcacagccaaaaaactgggtgtacagactgtggcggtttatagt
gaggctgacagaaattccatgcatgtagatatggcagatgaagcatattccatcggcccc
gctccctcccagcagagctacctatctatggagaaaatcattcaagtggccaagacctct
gctgcacaggctatccatccaggatgcggttttctctcagaaaacatggaatttgctgaa
ctttgtaagcaagaaggaattatttttataggccctcctccatctgcaattagagacatg
ggtataaagagcacatccaaatccataatggctgctgctggagtacctgttgtggagggt
tatcatggtgaggaccaatcagaccagtgcctgaaggaacacgccaggagaattggctat
cctgtcatgattaaagccgtccggggtggaggaggaaaaggaatgaggattgttagatca
gaacaagaatttcaagaacagttagagtcagcacggagagaagctaagaagtctttcaat
gatgatgctatgctgatcgagaagtttgtagacacaccgaggcatgtagaagtccaggtg
tttggtgatcaccatggcaatgctgtgtacttgtttgaaagagactgtagtgtgcagagg
cgacatcagaagatcattgaggaggccccagcgcctggtattaaatctgaagtaagaaaa
aagctgggagaagctgcagtcagagctgctaaagctgtaaattatgttggagcagggact
gtggagtttattatggactcaaaacataatttctgtttcatggagatgaatacaaggctg
caagtggaacatcctgttactgagatgatcacaggaactgacttggtggagtggcagctt
agaattgcagcaggagagaagattcctttgagccaggaagaaataactctgcagggccat
gccttcgaagctagaatatatgcagaagatcctagcaataacttcatgcctgtggcaggc
ccattagtgcacctctctactcctcgagcagacccttccaccaggattgaaactggagta
cggcaaggagacgaagtttccgtgcattatgaccccatgattgcgaagctggtcgtgtgg
gcagcagatcgccaggcggcattgacaaaactgaggtacagccttcgtcagtacaatatt
gttggactgcacaccaacattgacttcttactcaacctgtctggccacccagagtttgaa
gctgggaacgtgcacactgatttcatccctcaacaccacaaacagttgttgctcagtcgg
aaggctgcagccaaagagtctttatgccaggcagccctgggtctcatcctcaaggagaaa
gccatgaccgacactttcactcttcaggcacatgatcaattctctccattttcgtctagc
agtggaagaagactgaatatctcgtataccagaaacatgactcttaaagatggtaaaaac
aatgtagccatagctgtaacgtataaccatgatgggtcttatagcatgcagattgaagat
aaaactttccaagtccttggtaatctttacagcgagggagactgcacttacctgaaatgt
tctgttaatggagttgctagtaaagcgaagctgattatcctggaaaacactatttaccta
ttttccaaggaaggaagtattgagattgacattccagtccccaaatacttatcttctgtg
agctcacaagaaactcagggcggccccttagctcctatgactggaaccattgaaaaggtg
tttgtcaaagctggagacaaagtgaaagcgggagattccctcatggttatgatcgccatg
aagatggagcataccataaagtctccaaaggatggcacagtaaagaaagtgttctacaga
gaaggtgctcaggccaacagacacactcctttagtcgagtttgaggaggaagaatcagac
aaaagggaatcggaataa

KEGG   Homo sapiens (human): 64087
Entry
64087             CDS       T01001                                 

Gene name
MCCC2, MCCB
Definition
(RefSeq) methylcrotonoyl-CoA carboxylase 2
  KO
K01969  3-methylcrotonyl-CoA carboxylase beta subunit [EC:6.4.1.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa01100  Metabolic pathways
Module
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00833  HMGCL deficiency in leucine degradation
N00834  AUH deficiency in leucine degradation
N00836  MCCC2 deficiency in leucine degradation
N00851  Leucine degradation
Disease
H00181  3-Methylcrotonylglycinuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    64087 (MCCC2)
Enzymes [BR:hsa01000]
 6. Ligases
  6.4  Forming carbon-carbon bonds
   6.4.1  Ligases that form carbon-carbon bonds (only sub-subclass identified to date)
    6.4.1.4  methylcrotonoyl-CoA carboxylase
     64087 (MCCC2)
SSDB
Motif
Pfam: Carboxyl_trans MdcE
Other DBs
NCBI-GeneID: 64087
NCBI-ProteinID: NP_071415
OMIM: 609014
HGNC: 6937
Ensembl: ENSG00000131844
Vega: OTTHUMG00000162505
Pharos: Q9HCC0(Tbio)
UniProt: Q9HCC0 A0A140VK29
Position
5q13.2
AA seq 563 aa
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERV
EHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGII
TGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIAMQNRLPCIYLVDSGGAYLPR
QADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKL
DVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFA
RIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAK
DGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAAN
VLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLV
LGLSFSAALNAPIEKTDFGIFRM
NT seq 1692 nt   +upstreamnt  +downstreamnt
atgtgggccgtcctgaggttagccctgcggccgtgtgcccgcgcctctcccgccgggccg
cgcgcctatcacggggactcggtggcctcgctgggcacccagccggacttgggctctgcc
ctctaccaggagaactacaagcagatgaaagcactagtaaatcagctccatgaacgagtg
gagcatataaaactaggaggtggtgagaaagcccgagcacttcacatatcaagaggaaaa
ctattgcccagagaaagaattgacaatctcatagacccagggtctccatttctggaatta
tcccagtttgcaggttaccagttatatgacaatgaggaggtgccaggaggtggcattatt
acaggcattggaagagtatcaggagtagaatgcatgattattgccaatgatgccaccgtc
aaaggaggtgcctactacccagtgactgtgaaaaaacaattacgggcccaagaaattgcc
atgcaaaacaggctcccctgcatctacttagttgattcgggaggagcatacttacctcga
caagcagatgtgtttccagatcgagaccactttggccgtacattctataatcaggcaatt
atgtcttctaaaaatattgcacagatcgcagtggtcatgggctcctgcaccgcaggagga
gcctatgtgcctgccatggctgatgaaaacatcattgtacgcaagcagggtaccattttc
ttggcaggaccccccttggttaaagcggcaactggggaagaagtatctgctgaggatctt
ggaggtgctgatcttcattgcagaaagtctggagtaagtgaccactgggctttggatgat
catcatgcccttcacttaactaggaaggttgtgaggaatctaaattatcagaagaaattg
gatgtcaccattgaaccttctgaagagcctttatttcctgctgatgaattgtatggaata
gttggtgctaaccttaagaggagctttgatgtccgagaggtcattgctagaatcgtggat
ggaagcagattcactgagttcaaagccttttatggagacacattagttacaggatttgct
cgaatatttgggtacccagtaggtatcgttggaaacaacggagttctcttttctgaatct
gcaaaaaagggtactcactttgtccagttatgctgccaaagaaatattcctctgctgttc
cttcaaaacattactggatttatggttggtagagagtatgaagctgaaggaattgccaag
gatggtgccaagatggtggccgctgtggcctgtgcccaagtgcctaagataaccctcatc
attgggggctcctatggagccggaaactatgggatgtgtggcagagcatatagcccaaga
tttctctacatttggccaaatgctcgtatctcagtgatgggaggagagcaggcagccaat
gtgttggccacgataacaaaggaccaaagagcccgggaaggaaagcagttctccagtgct
gatgaagcggctttaaaagagcccatcattaagaagtttgaagaggaaggaaacccttac
tattccagcgcaagggtatgggatgatgggatcattgatccagcagacaccagactggtc
ttgggtctcagttttagtgcagccctcaacgcaccaatagagaagactgacttcggtatc
ttcaggatgtaa

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