KEGG H.sapiens: 56922

Homo sapiens (human): 56922

Entry

56922 CDS H.sapiens

Gene name MCCC1

Definition methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) (EC:6.4.1.4)

Orthology K01968 3-methylcrotonyl-CoA carboxylase alpha subunit [EC:6.4.1.4]

Pathway hsa00280 Valine, leucine and isoleucine degradation
hsa01100 Metabolic pathways

Disease H00181 3-Methylcrotonylglycinuria

Class Metabolism; Amino Acid Metabolism; Valine, leucine and isoleucine
degradation [PATH:hsa00280]

SSDB

Motif Pfam: CPSase_L_D2 CPSase_L_chain Biotin_carb_C Biotin_lipoyl
Dala_Dala_lig_C ATP-grasp RimK ATP-grasp_3 GARS_A HlyD
PROSITE: BIOTIN CPSASE_2 ATP_GRASP BC BIOTINYL_LIPOYL

Other DBs NCBI-GI: 116805327
NCBI-GeneID: 56922
OMIM: 609010
HGNC: 6936
HPRD: 01951
Ensembl: ENSG00000078070
UniProt: Q96RQ3

Structure

PDB: 2EJM

Position 3q27

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

All links

Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (10)   
   UniProt (1)   
   RefSeq(pep) (1)   
   IPI (8)   
DNA sequence (7)   
   RefSeq(nuc) (1)   
   GenBank (3)   
   EMBL (3)   
3D Structure (1)   
   PDB (1)   
Protein domain (15)   
   Pfam (10)   
   PROSITE (5)   
All databases (48)

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