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    KLHL31 kelch like family member 31 [ Homo sapiens (human) ]

    Gene ID: 401265, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KLHL31provided by HGNC
    Official Full Name
    kelch like family member 31provided by HGNC
    Primary source
    HGNC:HGNC:21353
    See related
    Ensembl:ENSG00000124743 MIM:610749; AllianceGenome:HGNC:21353
    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
    KLHL; BKLHD6; KBTBD1; bA345L23.2
    Summary
    Involved in negative regulation of JNK cascade and negative regulation of protein phosphorylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart (RPKM 15.6), fat (RPKM 6.5) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p12.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (53647916..53665756, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (53487843..53505696, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53512714..53530554, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:53437832-53438332 Neighboring gene KRT19 interacting long noncoding RNA in hepatocellular carcinoma Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:53480209-53481408 Neighboring gene long intergenic non-protein coding RNA 1564 Neighboring gene Sharpr-MPRA regulatory region 10125 Neighboring gene Sharpr-MPRA regulatory region 14005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24700 Neighboring gene Sharpr-MPRA regulatory region 11274 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:53587553-53587738 Neighboring gene uncharacterized LOC124901334 Neighboring gene NANOG hESC enhancer GRCh37_chr6:53595032-53595549 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:53599001-53600200 Neighboring gene uncharacterized LOC124901333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17294 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:53659875-53660587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17295 Neighboring gene Sharpr-MPRA regulatory region 10889 Neighboring gene leucine rich repeat containing 1

    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. A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE. Yu W, et al. Mol Cells, 2008 Nov 30. PMID 18719355
    2. A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. Wu YL, et al. Gene, 2004 Aug 18. PMID 15302408
    3. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    4. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results suggest that KLHL31 protein may act as a new transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions.
      Title: A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE.
    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch-like protein 31
    Names
    BTB and kelch domain-containing protein 6
    kelch repeat and BTB (POZ) domain containing 1
    kelch repeat and BTB domain-containing protein 1
    kelch-like protein KLHL

    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)

    1. NM_001003760.5 → NP_001003760.2  kelch-like protein 31

      See identical proteins and their annotated locations for NP_001003760.2

      Status: VALIDATED

      Source sequence(s)
      AL157773, EF633513
      Consensus CDS
      CCDS34478.1
      UniProtKB/Swiss-Prot
      A6N9J2, B2RP49, Q9H511
      Related
      ENSP00000359942.3, ENST00000370905.4
      Conserved Domains (6) summary
      smart00612
      Location:420 → 466
      Kelch; Kelch domain
      PHA03098
      Location:73 → 601
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:356 → 405
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:63 → 164
      BTB; BTB/POZ domain
      pfam01344
      Location:455 → 500
      Kelch_1; Kelch motif
      pfam07707
      Location:172 → 273
      BACK; BTB And C-terminal Kelch

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      53647916..53665756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      53487843..53505696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H511.1 GenPept UniProtKB/Swiss-Prot:Q9H511

    Gene LinkOut

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

    Chemical Information
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