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    KLHL3 kelch like family member 3 [ Homo sapiens (human) ]

    Gene ID: 26249, updated on 15-Jun-2019

    Summary

    Official Symbol
    KLHL3provided by HGNC
    Official Full Name
    kelch like family member 3provided by HGNC
    Primary source
    HGNC:HGNC:6354
    See related
    Ensembl:ENSG00000146021 MIM:605775
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHA2D
    Summary
    This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
    Expression
    Broad expression in thyroid (RPKM 5.9), heart (RPKM 4.0) and 23 other tissues See more
    Orthologs

    Genomic context

    See KLHL3 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (137617500..137736090, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (136953189..137150310, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 193 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 Neighboring gene uncharacterized LOC105379192 Neighboring gene VISTA enhancer hs2181 Neighboring gene microRNA 874 Neighboring gene uncharacterized LOC107986369 Neighboring gene heterogeneous nuclear ribonucleoprotein A0

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ40871, KIAA1129, MGC44594

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    distal tubule morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein K48-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination TAS
    Traceable Author Statement
    more info
    PubMed 
    renal sodium ion absorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    renal sodium ion absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    selective autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Cul3-RING ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_032569.1 RefSeqGene

      Range
      5001..123591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257194.1NP_001244123.1  kelch-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001244123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 5' coding exon and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 2; also known as KLHL3b) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB032955, AC106775, AF208070
      Consensus CDS
      CCDS58970.1
      UniProtKB/Swiss-Prot
      Q9UH77
      Related
      ENSP00000422099.1, ENST00000508657.5
      Conserved Domains (2) summary
      PHA03098
      Location:15534
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:399444
      Kelch; KELCH repeat [structural motif]
    2. NM_001257195.1NP_001244124.1  kelch-like protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001244124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 5' coding exons and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 3; also known as KLHL3c) with a shorter N-terminus, compared to isoform 1. This isoform is predicted to lack the protein binding BTB domain that is present in isoform 1.
      Source sequence(s)
      AB032955, AC106775, AF208069
      Consensus CDS
      CCDS58969.1
      UniProtKB/Swiss-Prot
      Q9UH77
      Related
      ENSP00000424828.1, ENST00000506491.5
      Conserved Domains (2) summary
      sd00038
      Location:349394
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:15484
      BTB; Broad-Complex, Tramtrack and Bric a brac
    3. NM_017415.3NP_059111.2  kelch-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_059111.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1; also known as KLHL3a).
      Source sequence(s)
      AB032955, AC106775, DA083147
      Consensus CDS
      CCDS4192.1
      UniProtKB/Swiss-Prot
      Q9UH77
      Related
      ENSP00000312397.4, ENST00000309755.9
      Conserved Domains (2) summary
      PHA03098
      Location:47566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:431476
      Kelch; KELCH repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      137617500..137736089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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