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    KLHL4 kelch like family member 4 [ Homo sapiens (human) ]

    Gene ID: 56062, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KLHL4provided by HGNC
    Official Full Name
    kelch like family member 4provided by HGNC
    Primary source
    HGNC:HGNC:6355
    See related
    Ensembl:ENSG00000102271 MIM:300348; AllianceGenome:HGNC:6355
    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
    KHL4; DKELCHL
    Summary
    This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in adrenal (RPKM 14.7), testis (RPKM 4.7) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL4 in Genome Data Viewer
    Location:
    Xq21.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (87517802..87670050)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (85944797..86097065)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (86772805..86925050)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene dachshund family transcription factor 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86060209-86060734 Neighboring gene COP9 signalosome subunit 8 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86236311-86237305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:86261248-86262057 Neighboring gene uncharacterized LOC124905267 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:86520149-86521348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86771985-86772760 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86772761-86773536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86934749-86935296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86941929-86942460 Neighboring gene MPRA-validated peak7403 silencer Neighboring gene uncharacterized LOC124905233 Neighboring gene ribosomal protein SA pseudogene 15

    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 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. Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region. Braybrook C, et al. Genomics, 2001 Mar 1. PMID 11401425
    2. Genomic imbalances associated with mullerian aplasia. Cheroki C, et al. J Med Genet, 2008 Apr. PMID 18039948
    3. KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A). Choi SH, et al. Biochem Biophys Res Commun, 2020 Sep 24. PMID 32753315
    4. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Braybrook C, et al. Hum Genet, 2001 Jun. PMID 11499681
    5. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A).
      Title: KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A).
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1687

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    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
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 4

    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.

    Genomic

    1. NG_012815.2 RefSeqGene

      Range
      5002..157250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019117.5 → NP_061990.2  kelch-like protein 4 isoform 1

      See identical proteins and their annotated locations for NP_061990.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate last exon as compared to variant 2, resulting in a frameshift and use of a different stop codon. The encoded isoform (1) is 2 aa shorter than isoform 2 and has a distinct C-terminus.
      Source sequence(s)
      AF284765, AL121884, BC161675, Z95400
      Consensus CDS
      CCDS14457.1
      UniProtKB/Swiss-Prot
      B2RTW2, Q9C0H6, Q9Y3J5
      UniProtKB/TrEMBL
      A5PKX1, B3KPK3
      Related
      ENSP00000362211.4, ENST00000373119.9
      Conserved Domains (6) summary
      smart00612
      Location:571 → 617
      Kelch; Kelch domain
      PHA03098
      Location:176 → 698
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:466 → 509
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:172 → 276
      BTB; BTB/POZ domain
      pfam01344
      Location:465 → 510
      Kelch_1; Kelch motif
      pfam07707
      Location:284 → 373
      BACK; BTB And C-terminal Kelch

    2. NM_057162.3 → NP_476503.1  kelch-like protein 4 isoform 2

      See identical proteins and their annotated locations for NP_476503.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform 2 which is 2 aa longer than isoform 1, and has a distinct C-terminus.
      Source sequence(s)
      AF284766, AL035424, AL121884, DB083610
      Consensus CDS
      CCDS14456.1
      UniProtKB/TrEMBL
      B3KPK3
      Related
      ENSP00000362206.4, ENST00000373114.4
      Conserved Domains (6) summary
      smart00612
      Location:571 → 617
      Kelch; Kelch domain
      PHA03098
      Location:176 → 698
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:466 → 509
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:172 → 276
      BTB; BTB/POZ domain
      pfam01344
      Location:465 → 510
      Kelch_1; Kelch motif
      pfam07707
      Location:284 → 373
      BACK; BTB And C-terminal Kelch

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      87517802..87670050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_938403.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      85944797..86097065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485496.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0H6.2 GenPept UniProtKB/Swiss-Prot:Q9C0H6

    Gene LinkOut

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

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