U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 57626, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
13q21.33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (69700597..70108452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (68922478..69330323, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (70274729..70682584, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:69808136-69809120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:69809121-69810105 Neighboring gene long intergenic non-protein coding RNA 383 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:69992288-69992964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:70057767-70058266 Neighboring gene serine and arginine rich splicing factor 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5392 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:70154274-70154848 Neighboring gene MPRA-validated peak2077 silencer Neighboring gene RNY3 pseudogene 10 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 13 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 3 Neighboring gene ATXN8 opposite strand (non-protein coding) repeat instability region Neighboring gene LUC7 like 3 pre-mRNA splicing factor pseudogene 1 Neighboring gene ATXN8 opposite strand lncRNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:70829090-70829790 Neighboring gene RNA, U6 small nuclear 54, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:71204047-71205022 Neighboring gene uncharacterized LOC105370255 Neighboring gene VISTA enhancer hs126 Neighboring gene VISTA enhancer hs540

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Influence of MRP2 on MPA pharmacokinetics in renal transplant recipients-results of the Pharmacogenomic Substudy within the Symphony Study. Lloberas N, et al. Nephrol Dial Transplant, 2011 Nov. PMID 21427078
  2. Genetic Risk of Trigger Finger: Results of a Genomewide Association Study. Sood RF, et al. Plast Reconstr Surg, 2020 Aug. PMID 32740585
  3. The Kelch-like protein 1 modulates P/Q-type calcium current density. Aromolaran KA, et al. Neuroscience, 2007 Mar 30. PMID 17289272
  4. T-type current modulation by the actin-binding protein Kelch-like 1. Aromolaran KA, et al. Am J Physiol Cell Physiol, 2010 Jun. PMID 20147652
  5. SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. Chen WL, et al. Brain Res, 2008 Oct 3. PMID 18708037

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
    Title: Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ30047, KIAA1490

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 
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
  
Component Evidence Code Pubs
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

Go to the top of the page Help
Preferred Names
kelch-like protein 1
Names
Mayven-related protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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]

  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    69700597..70108452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q96RF4

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

    UniProtKB/TrEMBL
    B7Z3I8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    68922478..69330323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374772.1 → XP_054230747.1  kelch-like protein 1 isoform X1

  2. XM_054374773.1 → XP_054230748.1  kelch-like protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR64.1 GenPept UniProtKB/Swiss-Prot:Q9NR64

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous