Hs01643318_cn

• Gene Symbol: MCCC1
• Assay Reference Genome Location: Chr.3:183020176 on build GRCh38
• Cytoband: 3q27.1

Target Gene Details

• Entrez Gene ID: 56922
• Gene Name: methylcrotonoyl-CoA carboxylase 1
• Gene Aliases: MCC-B, MCCA
• Location: Chr.3:183015218-183099587 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCCC1	NM_001293273.1	15	1819	NP_001280202.1
	NM_020166.4	17	2078	NP_064551.3
	NR_120639.1	14	1795
	NR_120640.1	17	2478
	XM_006713702.1	16	1884	XP_006713765.1
	XM_011512992.2	17	2676	XP_011511294.1
	XM_017006874.1	16	2443	XP_016862363.1
	XM_017006875.1	15	1680	XP_016862364.1
	AB029826.1	17	2063	BAA99407.1
	AB209737.1	17	1979	BAD92974.1
	AF297332.1	17	2097	AAK67986.1
	AF310339.1	17	2063	AAG50245.1
	AF310972.1	17	2064	AAG53095.1
	AK023051.1	17	2054	BAB14377.1
	AK098411.1	7	764
	AK294882.1	14	1726
	AK295293.1
	AL442091.1	17	1999
	BC004187.2	17	2063	AAH04187.1
	BC004214.2	17	2063	AAH04214.1
	CR749608.1	15	1691	CAH18403.1
	KU178727.1	17	1931
	KU178728.1	6	502

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv592654	Chr.3:182938822 - 183025479 on Build GRCh38	Loss	MCCC1 DCUN1D1
nsv482968	Chr.3:182869307 - 183035390 on Build GRCh38	Gain	MCCC1 DCUN1D1 ATP11B
nsv508968	Chr.3:182974407 - 183063558 on Build GRCh38	Insertion	MCCC1 DCUN1D1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

leucine catabolic process
biotin metabolic process
branched-chain amino acid catabolic process
protein heterooligomerization

Function(s)

biotin carboxylase activity
methylcrotonoyl-CoA carboxylase activity
protein binding
ATP binding
biotin binding
metal ion binding