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    KLHL24 kelch like family member 24 [ Homo sapiens (human) ]

    Gene ID: 54800, updated on 23-Mar-2024

    Summary

    Official Symbol
    KLHL24provided by HGNC
    Official Full Name
    kelch like family member 24provided by HGNC
    Primary source
    HGNC:HGNC:25947
    See related
    Ensembl:ENSG00000114796 MIM:611295; AllianceGenome:HGNC:25947
    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
    DRE1; EBS6; CMH29; EBSSH; KRIP6
    Summary
    The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in heart (RPKM 9.5), thyroid (RPKM 9.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    3q27.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183635623..183684519)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186445098..186493998)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183353411..183402307)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PRICKLE1 pseudogene 1 Neighboring gene uncharacterized LOC105374248 Neighboring gene uncharacterized LOC107986162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14946 Neighboring gene NANOG hESC enhancer GRCh37_chr3:183384502-183385010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14947 Neighboring gene YEATS domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:183527422-183528621 Neighboring gene YEATS2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183535409-183536020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14950 Neighboring gene MAP6 domain containing 1

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25796

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    kelch-like protein 24
    Names
    kainate receptor interacting protein for GluR6
    kelch-like 24

    NCBI Reference Sequences (RefSeq)

    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_001349413.1NP_001336342.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    2. NM_001349414.1NP_001336343.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 1, and 3-6, encode isoform a.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    3. NM_001349415.1NP_001336344.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, and 4-6, encodes isoform a.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    4. NM_001349416.1NP_001336345.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3, 5, and 6 encodes isoform a.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    5. NM_001349417.1NP_001336346.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1-4, and 6, encodes isoform a.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    6. NM_001349418.1NP_001336347.1  kelch-like protein 24 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1-5, encodes isoform a.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    7. NM_001349419.1NP_001336348.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7 and 9-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    8. NM_001349420.1NP_001336349.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 7, 8, and 10-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    9. NM_001349421.1NP_001336350.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 7-9 and 11-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    10. NM_001349422.1NP_001336351.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 7-10 and 12-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    11. NM_001349423.1NP_001336352.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 7-11 and 13-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    12. NM_001349424.1NP_001336353.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 7-12 and 14-15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    13. NM_001349425.1NP_001336354.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 7-13 and 15, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    14. NM_001349426.1NP_001336355.1  kelch-like protein 24 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 7-14, encodes isoform b.
      Source sequence(s)
      AC068769
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Related
      ENSP00000419010.1, ENST00000476808.1
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    15. NM_001349428.1NP_001336357.1  kelch-like protein 24 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variant 18, encodes isoform c.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:264310
      Kelch; Kelch domain
      sd00038
      Location:73112
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:46285
      BTB; Broad-Complex, Tramtrack and Bric a brac
    16. NM_001349429.1NP_001336358.1  kelch-like protein 24 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variant 17, encodes isoform c.
      Source sequence(s)
      AC068769
      Conserved Domains (3) summary
      smart00612
      Location:264310
      Kelch; Kelch domain
      sd00038
      Location:73112
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:46285
      BTB; Broad-Complex, Tramtrack and Bric a brac
    17. NM_017644.3NP_060114.2  kelch-like protein 24 isoform b

      See identical proteins and their annotated locations for NP_060114.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8-15, encodes isoform b.
      Source sequence(s)
      AC068769, AY422472
      Consensus CDS
      CCDS3246.1
      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Related
      ENSP00000242810.6, ENST00000242810.11
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)

    RNA

    1. NR_146169.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068769
    2. NR_146170.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068769

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      183635623..183684519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448371.1XP_047304327.1  kelch-like protein 24 isoform X1

    2. XM_047448372.1XP_047304328.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    3. XM_005247552.3XP_005247609.1  kelch-like protein 24 isoform X2

      See identical proteins and their annotated locations for XP_005247609.1

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
      Related
      ENSP00000395012.1, ENST00000454652.6
      Conserved Domains (4) summary
      smart00612
      Location:545591
      Kelch; Kelch domain
      PHA03098
      Location:62566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)
    4. XM_017006655.2XP_016862144.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    5. XM_017006653.2XP_016862142.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    6. XM_047448373.1XP_047304329.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    7. XM_047448374.1XP_047304330.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    8. XM_017006658.2XP_016862147.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570616
      Kelch; Kelch domain
      sd00038
      Location:354393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62591
      BTB; Broad-Complex, Tramtrack and Bric a brac
    9. XM_047448375.1XP_047304331.1  kelch-like protein 24 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186445098..186493998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346960.1XP_054202935.1  kelch-like protein 24 isoform X1

    2. XM_054346965.1XP_054202940.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    3. XM_054346964.1XP_054202939.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    4. XM_054346961.1XP_054202936.1  kelch-like protein 24 isoform X1

    5. XM_054346963.1XP_054202938.1  kelch-like protein 24 isoform X1

    6. XM_054346966.1XP_054202941.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    7. XM_054346967.1XP_054202942.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9
    8. XM_054346962.1XP_054202937.1  kelch-like protein 24 isoform X1

    9. XM_054346968.1XP_054202943.1  kelch-like protein 24 isoform X3