KLHL1 kelch like family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL1provided by HGNC
Official Full Name: kelch like family member 1provided by HGNC
Primary source: HGNC:HGNC:6352
See related: Ensembl:ENSG00000150361 MIM:605332; AllianceGenome:HGNC:6352
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRP2
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 13q21.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (69700597..70108452, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (68922478..69330323, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (70274729..70682584, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
Title: Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
Renal transplant recipients T carriers of C24T MRP2 with macrolides treatment were associated with reduced mycophenolic acid area under curve in steady-state conditions
Title: Influence of MRP2 on MPA pharmacokinetics in renal transplant recipients-results of the Pharmacogenomic Substudy within the Symphony Study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
KLHL1 interacts with Cav3.2 and modulates T-type calcium currents by increasing current deactivation kinetics and current density and calcium influx.
Title: T-type current modulation by the actin-binding protein Kelch-like 1.
KLHL1 was expressed in human brain and kidney, but was also in other tissues, such as prostate gland, small intestine, colon, testis (but not the ovaries), liver and pancreas.
Title: SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
This study provides, for the first time, insights into the involvement of MRP2 in neurite outgrowth, which occurs in a GSK3beta-dependent manner.
Title: KLHL1/MRP2 mediates neurite outgrowth in a glycogen synthase kinase 3beta-dependent manner.
modulatory effect of KLHL1 on the P/Q-type calcium channel function, suggesting a possible novel role for KLHL1 in cellular excitability.
Title: The Kelch-like protein 1 modulates P/Q-type calcium current density.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
UGT1A1 is a major locus influencing bilirubin levels in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of kelch-like 1 (KLHL1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65808 (e-PCR)
- UniSTS:16644

D13S1154 (e-PCR)
- UniSTS:21276

SHGC-24183 (e-PCR)
- UniSTS:86845

D13S318 (e-PCR)
- UniSTS:56646

RH48019 (e-PCR)
- UniSTS:3664

SHGC-151142 (e-PCR)
- UniSTS:173392

D13S1649 (e-PCR)
- UniSTS:28288

SHGC-83571 (e-PCR)
- UniSTS:101773

RH119990 (e-PCR)
- UniSTS:133314

SHGC-78755 (e-PCR)
- UniSTS:100806

D13S942 (e-PCR)
- UniSTS:152279

D13S954 (e-PCR)
- UniSTS:152290

D13S1296 (e-PCR), detects polymorphism
- UniSTS:71400

KLHL1 (e-PCR)
- UniSTS:505338

RH123033 (e-PCR)
- UniSTS:135422

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in adult walking behavior	IEA Inferred from Electronic Annotation more info
involved_in cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kelch-like protein 1

Names: Mayven-related protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001286725.2 → NP_001273654.1 kelch-like protein 1 isoform 2

See identical proteins and their annotated locations for NP_001273654.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AF252283, AK291435, AK295939, BC022460

Consensus CDS

CCDS73582.1

UniProtKB/TrEMBL

F5H1J3, Q8TBJ7

Related

ENSP00000439602.2, ENST00000545028.2

Conserved Domains (2) summary

PHA03098
Location:164 → 667

PHA03098; kelch-like protein; Provisional

sd00038
Location:435 → 478

Kelch; KELCH repeat [structural motif]
NM_020866.3 → NP_065917.1 kelch-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_065917.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF252283, AK291435, BC022460

Consensus CDS

CCDS9445.1

UniProtKB/Swiss-Prot

A8K5X0, Q5VZ64, Q9H4X4, Q9NR64, Q9NR65, Q9P238

UniProtKB/TrEMBL

Q8TBJ7

Related

ENSP00000367075.4, ENST00000377844.9

Conserved Domains (2) summary

PHA03098
Location:206 → 728

PHA03098; kelch-like protein; Provisional

sd00038
Location:496 → 539

Kelch; KELCH repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

69700597..70108452 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020678.3 → XP_016876167.1 kelch-like protein 1 isoform X1

UniProtKB/TrEMBL

Q96RF4
XM_017020679.2 → XP_016876168.1 kelch-like protein 1 isoform X2

UniProtKB/TrEMBL

B7Z3I8