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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MCCC1 Gene

protein-coding GIFtS: 62
GCID: GC03M182733

methylcrotonoyl-CoA carboxylase 1 (alpha)

(Previous name: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) )

Explore 11 diseases affiliated with
MCCC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Methylcrotonoyl-CoA Carboxylase 1 (Alpha)¹ ²		MCCase Subunit Alpha² ³
MCCA¹ ² ³ ⁵		EC 6.4.1.4³ ⁸
Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha)¹ ²		MCC-B²
3-Methylcrotonyl-CoA Carboxylase 1² ³		Methylcrotonoyl-CoA Carboxylase Subunit Alpha, Mitochondrial²
3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit² ³		EC 6.4.1⁸
3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha² ³

External Ids:	HGNC: 6936¹	Entrez Gene: 56922²	Ensembl: ENSG00000078070⁷	OMIM: 609010⁵	UniProtKB: Q96RQ3³

Export aliases for MCCC1 gene to outside databases

Previous GC identifers: GC03M179498 GC03M183588 GC03M184135 GC03M184053 GC03M184215 GC03M180137

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MCCC1:

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and

catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are

associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. (provided by

RefSeq, Jul 2008)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MCCC1 gene promoter:
USF1 USF2 USF-1:USF-2 Cdc5 Evi-1 POU2F1 POU2F1a USF-1 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MCCC1 promoter sequence

Search SABiosciences Chromatin IP Primers for MCCC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCCC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27 Ensembl cytogenetic band: 3q27.1 HGNC cytogenetic band: 3q27.1

MCCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCCC1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M182733: view genomic region (about GC identifiers)

Start:	182,733,006 bp from pter	End:	182,833,863 bp from pter
Size:	100,858 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3 (See protein sequence)

Recommended Name: Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial precursor

Size: 725 amino acids; 80473 Da

Cofactor: Biotin

Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits

Subcellular location: Mitochondrion matrix

Sequence caution: Sequence=BAD92974.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for MCCC1:

2EJM (3D)

Secondary accessions: Q59ES4 Q9H959 Q9NS97

Explore the universe of human proteins at neXtProt for MCCC1: NX_Q96RQ3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96RQ3

4/5 DME Specific Peptides for MCCC1 (Q96RQ3) (see all 5)

AMKMEHTI

YDPMIAKLVVW

ETGVRQGDEVSV

ERDCSVQRRHQK

MCCC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_064551.3

ENSEMBL proteins:

ENSP00000265594 ENSP00000419898 ENSP00000420088 ENSP00000420648 ENSP00000419658

ENSP00000420433 ENSP00000419328 ENSP00000420591 ENSP00000418979 ENSP00000420223

ENSP00000441253

Reactome Protein details: Q96RQ3
Human Recombinant Protein Products for MCCC1:

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	Novus Biologicals MCCC1 Proteins Novus Biologicals MCCC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MCCC1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005759	mitochondrial matrix	NAS	11170888

MCCC1 for ontologies About GeneDecksing

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Assay Products for MCCC1:

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	Uscn ELISAs and CLIAs for MCCC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MCCC1 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR000089 Biotin_lipoyl

IPR005481 CarbamoylP_synth_lsu_N

IPR016185 PreATP-grasp_dom

IPR011761 ATP-grasp

IPR005482 Biotin_COase_C

Graphical View of Domain Structure for InterPro Entry Q96RQ3

ProtoNet protein and cluster: Q96RQ3

2 Blocks protein families:

IPB000089 Biotin/lipoyl attachment

IPB001882 Biotin-requiring enzyme

UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3

Similarity: Contains 1 ATP-grasp domain

Similarity: Contains 1 biotin carboxylation domain

Similarity: Contains 1 biotinyl-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MCCA_HUMAN, Q96RQ3

Catalytic activity: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA

Enzyme Numbers (IUBMB): EC 6.4.1.4¹ ² EC 6.4.1²

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004075	biotin carboxylase activity	IEA	--
GO:0004485	methylcrotonoyl-CoA carboxylase activity	NAS	11170888
GO:0005524	ATP binding	IEA	--
GO:0009374	biotin binding	NAS	11401427
GO:0046872	metal ion binding	IEA	--

MCCC1 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MCCC1

miRNA Products:		OriGene 3'-UTR Clone: MCCC1 Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Branched-chain amino acid catabolism

	Branched-chain amino acid catabolism	1.00			leucine degradation I	0.33
	Valine, leucine and isoleucine degradation	0.39

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for MCCC1

leucine degradation I

3 Reactome Pathways for MCCC1

	Metabolism
	Metabolism of amino acids and derivatives
	Branched-chain amino acid catabolism

2 Kegg Pathways (Kegg details for MCCC1):

	Valine, leucine and isoleucine degradation
	Metabolic pathways

UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3

Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step

2/3

MCCC1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MCCC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/93 Interacting proteins for MCCC1 (Q96RQ3³ ENSP00000265594⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP2R2B	Q00005³, ENSP00000336591⁴	I2D: score=1 STRING: ENSP00000336591
PDHB	P11177³	I2D: score=4
ACTR2	P61160³	I2D: score=3
RBX1	P62877³	I2D: score=3
ACACB	O00763³	I2D: score=2

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006552	leucine catabolic process	NAS	11170888
GO:0006768	biotin metabolic process	NAS	11401427
GO:0009083	branched-chain amino acid catabolic process	TAS	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

MCCC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MCCC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MCCC1

8 HMDB Compounds for MCCC1 About this table

Compound	Synonyms	CAS #	PubMed Ids
(E)-2-Methylglutaconic acid	(E)-2-Methylglutaconate (see all 5)	53358-21-7	7059658
3-Methylcrotonyl-CoA	3-Methylbut-2-enoyl-CoA (see all 14)	793193-48-3	--
3-Methylglutaconyl-CoA	3-Methylglutaconyl-CoA (see all 4)	6247-73-0	--
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Biotin	(+)-Biotin (see all 42)	58-85-5	--
Ceramide (d18:1/16:0)	(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)	104404-17-3	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--

1 DrugBank Compound for MCCC1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Biotin	(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)	58-85-5	target	--	16773504

2 Novoseek chemical compound relationships for MCCC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-methylcrotonyl-coa	98.3	4	11401427 (1), 11406611 (1), 15868465 (1)
biotin	71.7	5	11401427 (2), 15623830 (1), 15868465 (1)

Search CenterWatch for drugs/clinical trials and news about MCCC1 / MCCA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MCCC1 gene:

NM_020166.3

Unigene Cluster for MCCC1:

Methylcrotonoyl-CoA carboxylase 1 (alpha)

Hs.47649 [show with all ESTs]

Unigene Representative Sequence: BC042453

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265594(uc003fle.3 uc011bqo.2 uc003flf.3 uc011bqp.1 uc011bqq.1)

ENST00000492597(uc003flg.3) ENST00000497830 ENST00000497959(uc010hxi.3)

ENST00000464601 ENST00000495767 ENST00000476176 ENST00000489909 ENST00000490284

ENST00000487634 ENST00000466650 ENST00000486226 ENST00000473955 ENST00000539926

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Additional cDNA sequence:

AB029826.1 AB209737.1 AF297332.1 AF310339.1 AF310972.1 AK023051.1 AK098411.1 AK295293.1

AK316428.1 AL442091.1 BC004187.2 BC004214.2 BC036395.1 BC042453.1 CR749608.1 XR_158780.2

XR_159417.2 XR_171428.1

12 DOTS entries:

DT.411963 DT.100798665 DT.101979853 DT.425914 DT.97762556 DT.120866674 DT.99949521 DT.95284773

DT.95328601 DT.97845644 DT.99963291 DT.100663105

1 AceView cDNA sequence:

BE169311

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for MCCC1 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19
SP1:																	-
SP2:									-				-
SP3:									-				-				-
SP4:																																									-
SP5:									-

ECgene alternative splicing isoforms for MCCC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MCCC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATTTGGGTC

About this image

MCCC1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MCCC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCCC1

SOURCE GeneReport for Unigene cluster: Hs.47649

SABiosciences Custom PCR Arrays for MCCC1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCCC1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCCC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for MCCC1 gene from 9/35 species (see all 35) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MCCC1¹	methylcrotonoyl-CoA carboxylase 1 (alpha)	73.85(n) 76.9(a)		424962 NM_001006551.1 NP_001006551.1
lizard (Anolis carolinensis)	Reptilia	MCCC1⁶	--	78(a)	1 ↔ 1	3(175555-192770)
tropical clawed frog (Xenopus tropicalis)	Amphibia	CF218409.1²	--	73.91(n)		CF218409.1
zebrafish (Danio rerio)	Actinopterygii	57072182²	--	75.13(n)		57072182
fruit fly (Drosophila melanogaster)	Insecta	CG2118^{1 , 3}	methylcrotonyl-CoA carboxylase³ 3-methyl-crotonyl-CoA carboxylase¹	54(a)³ 56.82(n)¹ 56.12(a)¹		100D2³ 43750¹ NM_143639.1¹ NP_651896.1¹
worm (Caenorhabditis elegans)	Secernentea	F32B6.2^{1 , 3}	carbomoyl-phosphate carboxylase³ Protein F32B6.2¹	51(a)³ 56.03(n)¹ 53.86(a)¹		IV(9884745-9887140)³ 177841¹ NM_069376.5¹ NP_501777.2¹
thale cress (Arabidopsis thaliana)	eudicotyledons	MCCA¹	methylcrotonoyl-CoA carboxylase subunit alpha	54.26(n) 49.62(a)		838362 NM_179252.2 NP_849583.1
rice (Oryza sativa)	Liliopsida	Os.19628²	Oryza sativa 3-methylcrotonyl CoA carboxylase biotin-containing more	74.35(n)		AK121511.1
E. coli (Escherichia coli)	Gamma proteobacteria	accC⁶	acetyl-CoA carboxylase, biotin carboxylase subunit...	47(a)	possible ortholog	Chromosome(3403939-3405288)

ENSEMBL Gene Tree for MCCC1 (if available)
TreeFam Gene Tree for MCCC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MCCC1 gene

PCCA²

4 SIMAP similar genes for MCCC1 using alignment to 9 protein entries: MCCA_HUMAN (see all proteins):

DKFZp686B20267 PC PCCA ACACB

MCCC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs119103213^1,2	C	pathogenic	202693783(-)	`GCTAGA/CATATA`	2	R S	mis¹		1		EU	1323
rs13075596^1,2	C,F,H	--	180138993(+)	`atgggT/Actggg`	1	--	int¹		11		EA NS NA	846
rs78885479^1,2	F	--	180139103(+)	`TCAACG/ATGTAT`	1	--	int¹		1		WA	118
rs113900810^1,2		--	180139216(+)	`TTGAAC/TCATCT`	1	--	int¹		1		CSA	2
rs112315417^1,2		--	180139453(+)	`AATTTC/AATTAA`	1	--	int¹		1		CSA	2
rs113460168^1,2	C,F	--	180140934(+)	`AAATCG/AGAGGC`	1	--	int¹		2		WA NA	4
rs113776335^1,2	C,F	--	180140954(+)	`AAATGC/TACTGG`	1	--	int¹		3		NA WA	6
rs80161297^1,2	F	--	180140980(+)	`ACAGCC/TCAAAT`	1	--	int¹		1		NA	4
rs34715234^1,2	C,F	--	180141053(+)	`AAATGC/TACTGG`	1	--	int¹		2		NA	4
rs74987337^1,2	C	--	180141269(+)	`CCTTT-/AWTTTT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MCCC1 (182733006 - 182833863 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MCCC1
2 Indels: 11218 68510
Human Gene Mutation Database (HGMD): MCCC1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MCCC1 for disorders           About GeneDecksing

OMIM gene information: 609010
OMIM disorders: 210200
UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3

Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]. 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

11 diseases for MCCC1: About MalaCards

3 methylcrotonyl-coa carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase deficiency pseudomyxoma peritonei mucinous cystadenocarcinoma

carnitine deficiency cystadenocarcinoma hypotonia parkinson's disease

pneumonia tuberculosis mycobacterium tuberculosis

2 diseases from the University of Copenhagen DISEASES database for MCCC1:

3-Methylcrotonyl-CoA carboxylase deficiency Organic acidemia

Human Genome Epidemiology (HuGE) Navigator: MCCC1 (3 documents)

Export disorders for MCCC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MCCC1 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with MCCC1)

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world of online information

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PubMed id 11170888)^{1, 2, 3, 9} Gallardo M.E.... Penalva M.A. (2001)
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PubMed id 11406611)^{1, 2, 9} Holzinger A....Roscher A.A. (2001)
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)^{1, 2, 9} Obata K.... Kondo I. (2001)
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 11181649)^{1, 2, 9} Baumgartner M.R.... Valle D. (2001)
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (PubMed id 22150417)^{1, 2} Cho S.Y.... Jin D.K. (2012)
Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. (PubMed id 16023992)^{1, 2} Stadler S.C....Holzinger A. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 19706617)^{1, 9} Stucki M....Baumgartner M.R. (2009)
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 17968484)^{1, 9} Uematsu M....Ohura T. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 56922	HGNC: 6936	AceView: MCCC1.1	Ensembl:ENSG00000078070	euGenes: HUgn56922
ECgene: MCCC1	Kegg: 56922	H-InvDB: MCCC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MCCC1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCCC1

Intellectual Property for MCCC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MCCC1 gene:
Search GeneIP for patents involving MCCC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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methylcrotonoyl-CoA carboxylase 1 (alpha)

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MCCC1 Gene

methylcrotonoyl-CoA carboxylase 1 (alpha)

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