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

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

    Summary

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    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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
    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    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

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    Preferred Names
    kelch-like protein 1
    Names
    Mayven-related protein 2

    NCBI Reference Sequences (RefSeq)

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    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.

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