KLHL1 - kelch like family member 1 Gene

Homo sapiens

Also known as MRP2

Gene ID: 57626 | Gene type: protein coding

About KLHL1

Cytogenetic location: 13q21.33 Genomic coordinates (GRCh38): 13:69,700,597-70,108,452 (from NCBI)

This gene has 2 transcripts (splice variants), 130 orthologues and 54 paralogues. Low expression observed in reference dataset.

Summary

The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]

KLHL1 Products(2)

mRNA	Protein	Name
NM_001286725.2	NP_001273654.1	kelch-like protein 1 isoform 2
NM_020866.3	NP_065917.1	kelch-like protein 1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22632832	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10888605	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHL1 Protein Structure

BTB

BACK

Kelch_1

0
200
400
600
748 a.a.

Protein Preferred Names

Protein Names

kelch-like protein 1

Mayven-related protein 2

KLHL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KLHL1	Q9NR64	VHL	Homo sapiens	P40337-2	Y2H Pooling	32814053
Intra	KLHL1	Q9NR64	VHL	Homo sapiens	P40337-2	Validated Y2H	32814053
Intra	KLHL1	Q9NR64	VHL	Homo sapiens	P40337-2	Y2H Array	32814053
Intra	KLHL1	Q9NR64	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	30190310
Intra	KLHL1	Q9NR64	NUDCD3	Homo sapiens	Q8IVD9	Anti Tag CoIP	33961781
Intra	KLHL1	Q9NR64	NUDCD3	Homo sapiens	Q8IVD9	Lumier	25036637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Polyneuropathy Due To Drug

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07354	KLHL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KLHL1	RGD	RGD:1307452
Canis familiaris	KLHL1	VGNC	VGNC:42445
Mus musculus	KLHL1	MGD	MGI:2136335
Macaca mulatta	KLHL1	VGNC	VGNC:74184
Felis catus	KLHL1	VGNC	VGNC:67957
Bos taurus	KLHL1	VGNC	VGNC:53821
Others	KLHL1	NCBI

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