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

Gene ID: 54800, updated on 7-Jun-2020

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
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; 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

Genomic context

See KLHL24 in Genome Data Viewer
Location:
3q27.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (183635619..183684519)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183353398..183402307)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene prickle planar cell polarity protein 1 pseudogene Neighboring gene uncharacterized LOC105374248 Neighboring gene uncharacterized LOC107986162 Neighboring gene YEATS domain containing 2 Neighboring gene YEATS2 antisense RNA 1 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

Homology

Clone Names

  • FLJ25796

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of kainate selective glutamate receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
desmosome IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    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
    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
    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
    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
    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
    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
    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
    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
    Q6TFL4
    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: Homo sapiens Updated 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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    183635619..183684519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453607.1XP_024309375.1  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
  2. XM_005247552.2XP_005247609.1  kelch-like protein 24 isoform X2

    See identical proteins and their annotated locations for XP_005247609.1

    UniProtKB/Swiss-Prot
    Q6TFL4
    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)
  3. XM_017006655.1XP_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
  4. XM_017006658.1XP_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
  5. XM_017006661.1XP_016862150.1  kelch-like protein 24 isoform X3

  6. XM_017006653.1XP_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
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