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

    Gene ID: 54800, updated on 27-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See KLHL24 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183635623..183684519)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186445098..186493998)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A microRNA encoded by HSV-1 inhibits a cellular transcriptional repressor of viral immediate early and early genes. Wu W, et al. Sci China Life Sci, 2013 Apr. PMID 23512275
    2. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. Vermeer MCSC, et al. Br J Dermatol, 2022 Dec. PMID 35975634, Free PMC Article
    3. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex. Lee JYW, et al. J Invest Dermatol, 2017 Jun. PMID 28111128
    4. The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility. Has C. J Invest Dermatol, 2017 Jun. PMID 28532758
    5. Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. Yenamandra VK, et al. Br J Dermatol, 2018 Nov. PMID 29779254

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
      Title: EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
    2. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
      Title: A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
    3. Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
      Title: Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.
    4. Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
      Title: Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
    5. we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM
      Title: Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
    6. Study in a Dutch family propose that a KLHL24 mutation cause a syndromic rather than a skin-only type of epidermolysis bullosa, in which cardiomyopathy may be a dominant symptom.
      Title: Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
    7. Case Reports: Epidermolysis bullosa simplex -KLHL24 is characterized by congenital skin defects of the lower limbs, which heal rapidly, leaving hypopigmented-atrophic patches and peculiar stellate and linear raised scars.
      Title: Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.
    8. KLHL24 mutation is associated in the pathogenesis of skin abnormalities and epidermolysis bullosa simplex.
      Title: The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
    9. KLHL24 Mutation is associated with epidermolysis bullosa.
      Title: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
    10. findings identify KLHL24 mutations as a cause of skin fragility and identify a role for KLHL24 in maintaining the balance between intermediate filament stability and degradation required for skin integrity
      Title: Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25796

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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 desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001349413.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    2. NM_001349414.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    3. NM_001349415.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    4. NM_001349416.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    5. NM_001349417.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    6. NM_001349418.1 → NP_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:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    7. NM_001349419.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349420.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349421.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349422.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349423.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349424.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349425.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349426.1 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_001349428.1 → NP_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:264 → 310
      Kelch; Kelch domain
      sd00038
      Location:73 → 112
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:46 → 285
      BTB; Broad-Complex, Tramtrack and Bric a brac

    16. NM_001349429.1 → NP_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:264 → 310
      Kelch; Kelch domain
      sd00038
      Location:73 → 112
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:46 → 285
      BTB; Broad-Complex, Tramtrack and Bric a brac

    17. NM_017644.3 → NP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_2024_08

    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_047448371.1 → XP_047304327.1  kelch-like protein 24 isoform X1

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

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    3. XM_005247552.3 → XP_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:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      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_017006655.2 → XP_016862144.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    5. XM_017006653.2 → XP_016862142.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    6. XM_047448373.1 → XP_047304329.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    7. XM_047448374.1 → XP_047304330.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    8. XM_017006658.2 → XP_016862147.1  kelch-like protein 24 isoform X1

      Conserved Domains (3) summary
      smart00612
      Location:570 → 616
      Kelch; Kelch domain
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:62 → 591
      BTB; Broad-Complex, Tramtrack and Bric a brac

    9. XM_047448375.1 → XP_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_054346960.1 → XP_054202935.1  kelch-like protein 24 isoform X1

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

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    3. XM_054346964.1 → XP_054202939.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    4. XM_054346961.1 → XP_054202936.1  kelch-like protein 24 isoform X1

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

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

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    7. XM_054346967.1 → XP_054202942.1  kelch-like protein 24 isoform X2

      UniProtKB/Swiss-Prot
      A5PLN8, Q6TFL4, Q9H620, Q9NXT9

    8. XM_054346962.1 → XP_054202937.1  kelch-like protein 24 isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6TFL4.1 GenPept UniProtKB/Swiss-Prot:Q6TFL4

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