Hs01802912_cn

• Gene Symbol: KLHL1
• Assay Reference Genome Location: Chr.13:69719492 on build GRCh38
• Cytoband: 13q21.33

Target Gene Details

• Entrez Gene ID: 57626
• Gene Name: kelch like family member 1
• Gene Aliases: MRP2
• Location: Chr.13:69700593-70108493 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL1	NM_001286725.1	8	2503	NP_001273654.1
	NM_020866.2	9	2686	NP_065917.1
	XM_017020678.1	9	1606	XP_016876167.1
	XM_017020679.1	9	2193	XP_016876168.1
	AB040923.1	9	2652
	AF252283.1	9	2520	AAF81719.1
	AK291435.1	9	2686
	AK295939.1	8	1694
	BC022460.1	9	1930	AAH22460.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045844	Chr.13:69463964 - 69831303 on Build GRCh38	Gain	KLHL1
nsv1049684	Chr.13:69552739 - 69759313 on Build GRCh38	Gain	KLHL1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

adult walking behavior
dendrite development
protein ubiquitination
cerebellar Purkinje cell layer development
actin cytoskeleton organization

Function(s)

actin binding
ubiquitin-protein transferase activity