Hs06294367_cn

• Gene Symbol: CPT1A
• Assay Reference Genome Location: Chr.11:68770329 on build GRCh38
• Cytoband: 11q13.3

Target Gene Details

• Entrez Gene ID: 1374
• Gene Name: carnitine palmitoyltransferase 1A
• Gene Aliases: CPT1, CPT1-L, L-CPT1
• Location: Chr.11:68754620-68844410 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPT1A	NM_001031847.2			NP_001027017.1
	NM_001876.3			NP_001867.2
	XM_005273762.2			XP_005273819.1
	XM_005273763.1			XP_005273820.1
	XM_017017220.1			XP_016872709.1
	AK025307.1
	AK172798.1
	AK314301.1
	BC000185.1			AAH00185.1
	BT009791.1			AAP88793.1
	L39211.1			AAC41748.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509422	Chr.11:68734013 - 68794964 on Build GRCh38	Insertion	TESMIN CPT1A
nsv428261	Chr.11:68754616 - 68937835 on Build GRCh38	Gain	IGHMBP2 MRPL21 CPT1A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

long-chain fatty acid metabolic process
glucose metabolic process
fatty acid beta-oxidation
triglyceride metabolic process
carnitine shuttle
circadian rhythm
carnitine metabolic process
response to organic cyclic compound
epithelial cell differentiation
positive regulation of fatty acid beta-oxidation
response to drug
eating behavior
regulation of insulin secretion
protein homooligomerization
cellular response to fatty acid

Function(s)

carnitine O-palmitoyltransferase activity
identical protein binding
palmitoleoyltransferase activity