Hs00316327_cn

• Gene Symbol: MCCC1
• Assay Reference Genome Location: Chr.3:183017311 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: Overlaps Intron 20 - Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCCC1	NM_001293273.1			NP_001280202.1
	NM_020166.4			NP_064551.3
	NR_120639.1
	NR_120640.1
	XM_006713702.1			XP_006713765.1
	XM_011512992.2			XP_011511294.1
	XM_017006874.1			XP_016862363.1
	XM_017006875.1			XP_016862364.1
	AB029826.1			BAA99407.1
	AB209737.1			BAD92974.1
	AF297332.1			AAK67986.1
	AF310339.1			AAG50245.1
	AF310972.1			AAG53095.1
	AK023051.1			BAB14377.1
	AK098411.1
	AK294882.1
	AL442091.1
	BC004187.2			AAH04187.1
	BC004214.2			AAH04214.1
	CR749608.1			CAH18403.1
	KU178727.1
	KU178728.1

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	DCUN1D1 MCCC1
nsv482968	Chr.3:182869307 - 183035390 on Build GRCh38	Gain	DCUN1D1 MCCC1 ATP11B
nsv508968	Chr.3:182974407 - 183063558 on Build GRCh38	Insertion	DCUN1D1 MCCC1

More Information

• Set Membership: Intragenic, Non-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