Details for: MCCC1
Associated with
Other Information
Genular Protein ID: 3467690564
Symbol: MCCA_HUMAN
Name: Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11170888
Title: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
PubMed ID: 11170888
DOI: 10.1086/318202
PubMed ID: 11401427
Title: Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.
PubMed ID: 11401427
PubMed ID: 11406611
Title: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
PubMed ID: 11406611
PubMed ID: 11181649
Title: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
PubMed ID: 11181649
DOI: 10.1172/jci11948
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 16023992
Title: Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.
PubMed ID: 16023992
PubMed ID: 17360195
Title: Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).
PubMed ID: 17360195
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 23438705
Title: Mitochondrial SIRT4-type proteins in Caenorhabditis elegans and mammals interact with pyruvate carboxylase and other acetylated biotin-dependent carboxylases.
PubMed ID: 23438705
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 32561715
Title: Leucine regulates autophagy via acetylation of the mTORC1 component raptor.
PubMed ID: 32561715
PubMed ID: 16010683
Title: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
PubMed ID: 16010683
DOI: 10.1002/humu.9352
PubMed ID: 17968484
Title: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
PubMed ID: 17968484
PubMed ID: 21071250
Title: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
PubMed ID: 21071250
PubMed ID: 22150417
Title: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
PubMed ID: 22150417
PubMed ID: 22264772
Title: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
PubMed ID: 22264772
PubMed ID: 22642865
Title: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
PubMed ID: 22642865
PubMed ID: 25382614
Title: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
PubMed ID: 25382614
DOI: 10.1111/cge.12535
PubMed ID: 27601257
Title: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
PubMed ID: 27601257
PubMed ID: 28887846
Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
PubMed ID: 28887846
DOI: 10.1002/humu.23335
Sequence Information:
- Length: 725
- Mass: 80473
- Checksum: B84AD23806035A40
- Sequence:
MAAASAVSVL LVAAERNRWH RLPSLLLPPR TWVWRQRTMK YTTATGRNIT KVLIANRGEI ACRVMRTAKK LGVQTVAVYS EADRNSMHVD MADEAYSIGP APSQQSYLSM EKIIQVAKTS AAQAIHPGCG FLSENMEFAE LCKQEGIIFI GPPPSAIRDM GIKSTSKSIM AAAGVPVVEG YHGEDQSDQC LKEHARRIGY PVMIKAVRGG GGKGMRIVRS EQEFQEQLES ARREAKKSFN DDAMLIEKFV DTPRHVEVQV FGDHHGNAVY LFERDCSVQR RHQKIIEEAP APGIKSEVRK KLGEAAVRAA KAVNYVGAGT VEFIMDSKHN FCFMEMNTRL QVEHPVTEMI TGTDLVEWQL RIAAGEKIPL SQEEITLQGH AFEARIYAED PSNNFMPVAG PLVHLSTPRA DPSTRIETGV RQGDEVSVHY DPMIAKLVVW AADRQAALTK LRYSLRQYNI VGLHTNIDFL LNLSGHPEFE AGNVHTDFIP QHHKQLLLSR KAAAKESLCQ AALGLILKEK AMTDTFTLQA HDQFSPFSSS SGRRLNISYT RNMTLKDGKN NVAIAVTYNH DGSYSMQIED KTFQVLGNLY SEGDCTYLKC SVNGVASKAK LIILENTIYL FSKEGSIEID IPVPKYLSSV SSQETQGGPL APMTGTIEKV FVKAGDKVKA GDSLMVMIAM KMEHTIKSPK DGTVKKVFYR EGAQANRHTP LVEFEEEESD KRESE
Genular Protein ID: 3309952262
Symbol: Q68D27_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 575
- Mass: 63967
- Checksum: 230DF52EBB05AAE9
- Sequence:
MEKIIQVAKT SAAQHIQSIM AAAGVPVVEG YHGEDQSDQC LKEHARRIGY PVMIKAVRGG GGKGMRIVRS EQEFQEQLES ARREAKKSFN DDAMLIEKFV DTPRHVEVQV FGDHHGNAVY LFERDCSVQR RHQKIIEEAP APGIKSEVRK KLGEAAVRAA KAVNYVGAGT VEFIMDSKHN FCFMEMNTRL QVEHPVTEMI TGTDLVEWQL RIAAGEKIPL SQEEITLQGH AFEARIYAED PSNNFMPVAG PLVHLSTPRA DPSTRIETGV RQGDEVSVHY DPMIAKLVVW AADRQAALTK LRYSLRQYNI VGLPTNIDFL LNLSGHPEFE AGNVHTDFIP QHHKQLLLSR KAAAKESLCQ AALGLILKEK AMTDTFTLQA HDQFSPFSSS SGRRLNISYT RNMTLKDGKN NVAIAVTYNH DGSYSMQIED KTFQVLGNLY SEGDCTYLKC SVNGVASKAK LIILENTIYL FSKEGSIEID IPVPKYLSSV SSQETQGGPL APMTGTIEKV FVKAGDKVKA GDSLMVMIAM KMEHTIKSPK DGTVKKVFYR EGAQANRHTP LVEFEEEESD KRESE
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.