KLHL24 - kelch like family member 24 Gene

Also Known as DRE1; EBS6; EBSSH; KRIP6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54800

About KLHL24

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,635,623-183,684,519 (from NCBI)

This gene has 15 transcripts (splice variants), 223 orthologues, 54 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 9.5), thyroid (RPKM 9.3) and 25 other tissues.

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]

KLHL24 Products (17)

mRNA Protein Name
NM_001349413.1 NP_001336342.1 kelch-like protein 24 isoform a
NM_001349414.1 NP_001336343.1 kelch-like protein 24 isoform a
NM_001349415.1 NP_001336344.1 kelch-like protein 24 isoform a
NM_001349416.1 NP_001336345.1 kelch-like protein 24 isoform a
NM_001349417.1 NP_001336346.1 kelch-like protein 24 isoform a
NM_001349418.1 NP_001336347.1 kelch-like protein 24 isoform a
NM_001349419.1 NP_001336348.1 kelch-like protein 24 isoform b
NM_001349420.1 NP_001336349.1 kelch-like protein 24 isoform b
NM_001349421.1 NP_001336350.1 kelch-like protein 24 isoform b
NM_001349422.1 NP_001336351.1 kelch-like protein 24 isoform b
NM_001349423.1 NP_001336352.1 kelch-like protein 24 isoform b
NM_001349424.1 NP_001336353.1 kelch-like protein 24 isoform b
NM_001349425.1 NP_001336354.1 kelch-like protein 24 isoform b
NM_001349426.1 NP_001336355.1 kelch-like protein 24 isoform b
NM_001349428.1 NP_001336357.1 kelch-like protein 24 isoform c
NM_001349429.1 NP_001336358.1 kelch-like protein 24 isoform c
NM_017644.3 NP_060114.2 kelch-like protein 24 isoform b

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
27798626 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
27889062 GOA
involved in protein autoubiquitination IMP
IMP: Inferred from mutant phenotype
27798626 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
27798626 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of Cul3-RING ubiquitin ligase complex IMP
IMP: Inferred from mutant phenotype
27798626 GOA
located in adherens junction IDA
IDA: Inferred from direct assay
27889062 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
27889062 GOA
located in desmosome IDA
IDA: Inferred from direct assay
27889062 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHL24 Protein Structure

BTB

BTB: BTB/POZ domain (56 - 162)

BACK

BACK: BTB And C-terminal Kelch (168 - 270)

Kelch_1

Kelch_1: Kelch motif (354 - 394)

Kelch_1

Kelch_1: Kelch motif (400 - 440)

Kelch_1

Kelch_1: Kelch motif (445 - 482)

Kelch_1

Kelch_1: Kelch motif (494 - 529)

Kelch_1

Kelch_1: Kelch motif (536 - 578)

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  • 600 a.a.
Protein Preferred Names Protein Names

kelch-like protein 24

  • kainate receptor interacting protein for GluR6

KLHL24 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
KLHL24 Q6TFL4 ATP6V1C2 Homo sapiens Q8NEY4-2
Validated Y2H
32296183
Intra
KLHL24 Q6TFL4 KLHL12 Homo sapiens Q53G59
Anti Tag CoIP
30190310
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss

  • Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss

  • EBS6

  • Ebssh

  • Intermediate Epidermolysis Bullosa Simplex With Cardiomyopathy

  • Intermediate Ebs With Cardiomyopathy
Epidermolysis Bullosa Simplex Generalized Type

  • Epidermolysis Bullosa Simplex, Koebner Type

  • Epidermolysis Bullosa Simplex Koebner Type

  • Epidermolysis Bullosa Simplex, Generalized

  • Ebs, Generalized

  • Ebs-K

  • Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara

  • Generalized Ebs

  • Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex

  • Ebs

  • Epidermolysis Bullosa Intraepidermic

  • Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa

  • Acantholysis Bullosa

  • Eb
Diffuse Palmoplantar Keratoderma

  • Diffuse Palmoplantar Hyperkeratosis

  • Diffuse Ppk

  • Diffuse Keratosis Palmoplantaris
Transient Bullous Dermolysis Of The Newborn

  • TBDN

  • Transient Bullous Of The Newborn

  • Epidermolysis Bullosa Dystrophica, Neonatal Form

  • Dystrophic Epidermolysis Bullosa, Neonatal

  • Deb, Bullous Dermolysis Of The Newborn

  • Deb-Bdn

  • Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form

  • Self-Improving Dystrophic Epidermolysis Bullosa

  • Self-Improving Deb

  • Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Ureterocele
Epidermolysis Bullosa Simplex 1a, Generalized Severe

  • Epidermolysis Bullosa Simplex, Dowling-Meara Type

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

  • EBS1A

  • Ebsdm

  • Epidermolysis Bullosa Simplex Dowling-Meara Type

  • Epidermolysis Bullosa Simplex, Herpetiformis

  • Ebs-Dm

  • Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

  • Ebs-Gen Sev

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

  • Generalized Severe Epidermolysis Bullosa Simplex

  • Dowling-Meara Type Epidermolysis Bullosa Simplex

  • Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

  • Autosomal Dominant Generalized Ebs, Severe Form

  • Epidermolysis Bullosa Simplex Herpetiformis

  • Dm-Ebs

  • Epidermolysis Bullosa Simplex, Generalized Severe

  • Epidermolysis Bullosa Herpetiformis, Dowling-Meara

  • Epidermolysis Bullosa Herpetiformis Dowling-Meara
Cold-Induced Sweating Syndrome

  • Crisponi Syndrome

  • Sohar-Crisponi Syndrome

  • Ciss

  • Cntf Receptor-Related Disorders

  • Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

  • Sweating Syndrome, Cold-Induced
Bullous Skin Disease

  • Skin Diseases Bullous

  • Skin Diseases, Bullous
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS07364 KLHL24 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21878 Klhl24 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28395 Klhl24 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus KLHL24 VGNC VGNC:63149
Bos taurus KLHL24 VGNC VGNC:30652
Canis familiaris KLHL24 VGNC VGNC:42458
Macaca mulatta KLHL24 VGNC VGNC:74128
Rattus norvegicus KLHL24 RGD RGD:727971
Mus musculus KLHL24 MGD MGI:1923035
Others KLHL24 NCBI