KLHL24
entrez
54800
canonical
uniprot
Q6TFL4
canonical
ensembl
ENSG00000114796
resolver
ensp
ENSP00000242810
resolver
ensp
ENSP00000395012
resolver
ensp
ENSP00000523915
resolver
ensp
ENSP00000523916
resolver
ensp
ENSP00000523917
resolver
ensp
ENSP00000523918
resolver
ensp
ENSP00000523919
resolver
ensp
ENSP00000523920
resolver
ensp
ENSP00000523923
resolver
ensp
ENSP00000523924
resolver
ensp
ENSP00000523925
resolver
ensp
ENSP00000613909
resolver
ensp
ENSP00000613912
resolver
ensp
ENSP00000613915
resolver
ensp
ENSP00000613924
resolver
ensp
ENSP00000613932
resolver
ensp
ENSP00000786096
resolver
genesymbol
KLHL24
resolver
genesymbol_syn
DRE1
resolver
hgnc
HGNC:25947
resolver
uniprot
A5PLN8
resolver
uniprot
Q9H620
resolver
uniprot
Q9NXT9
resolver
uniprot_entry
KLH24_HUMAN
resolver
uniprot_sec
A5PLN8
resolver
uniprot_sec
Q9H620
resolver
uniprot_sec
Q9NXT9
resolver
amino_acid_sequence
MVLILGRRLNREDLGVRDSPATKRKVFEMDPKSLTGHEFFDFSSGSSHAENILQIFNEFRDSRLFTDVIICVEGKEFPCHRAVLSACSSYFRAMFCNDHRESREMLVEINGILAEAMECFLQYVYTGKVKITTENVQYLFETSSLFQISVLRDACAKFLEEQLDPCNCLGIQRFADTHSLKTLFTKCKNFALQTFEDVSQHEEFLELDKDELIDYICSDELVIGKEEMVFEAVMRWVYRAVDLRRPLLHELLTHVRLPLLHPNYFVQTVEVDQLIQNSPECYQLLHEARRYHILGNEMMSPRTRPRRSTGYSEVIVVVGGCERVGGFNLPYTECYDPVTGEWKSLAKLPEFTKSEYAVCALRNDILVSGGRINSRDVWIYNSQLNIWIRVASLNKGRWRHKMAVLLGKVYVVGGYDGQNRLSSVECYDSFSNRWTEVAPLKEAVSSPAVTSCVGKLFVIGGGPDDNTCSDKVQSYDPETNSWLLRAAIPIAKRCITAVSLNNLIYVAGGLTKAIYCYDPVEDYWMHVQNTFSRQENCGMSVCNGKIYILGGRRENGEATDTILCYDPATSIITGVAAMPRPVSYHGCVTIHRYNEKCFKL
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy (EBS6) [MIM:617294]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS6 is an autosomal dominant disorder presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. {ECO:0000269|PubMed:27798626, ECO:0000269|PubMed:27889062}. Note=The disease is caused by variants affecting the gene represented in this entry. Gain-of-function mutations that lead to excessive ubiquitination and degradation of KRT14 result in compromised mechanical integrity of basal keratinocytes. Under this pathological condition, trivial mechanical stress can induce blister formation at the basal layer of skin. {ECO:0000269|PubMed:27798626}.; DISEASE: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (CMH29) [MIM:620236]: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH29 is an autosomal recessive form associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes. Intermyofibrillar glycogen accumulation is also present in skeletal muscle. {ECO:0000269|PubMed:30715372}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity). Has a crucial role in cardiac development and function (PubMed:30715372). {ECO:0000250|UniProtKB:Q56A24, ECO:0000269|PubMed:27798626, ECO:0000269|PubMed:27889062, ECO:0000269|PubMed:30715372}.
uniprot
proteins
mass_dalton
68361
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="K->R: Increased protein stability."; /evidence="ECO:0000269|PubMed:27798626"; MUTAGEN 90; /note="Y->A: Weak interaction with CUL3. Weak autoubiquitination."; /evidence="ECO:0000269|PubMed:27798626"; MUTAGEN 175; /note="A->V: Weak interaction with CUL3. Weak autoubiquitination."; /evidence="ECO:0000269|PubMed:27798626
uniprot
proteins
post_translational_modification
PTM: Autoubiquitinated. Autoubiquitination leads to proteasomal degradation and is necessary to control KLHL24 levels. {ECO:0000269|PubMed:27798626}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
27798626
uniprot
proteins
pubmed
27889062
uniprot
proteins
pubmed
30715372
uniprot
proteins
sequence_length
600
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Perikaryon. Cell projection, axon {ECO:0000250|UniProtKB:Q56A24}. Cytoplasm {ECO:0000250|UniProtKB:Q56A24, ECO:0000269|PubMed:27889062}. Cell junction, desmosome {ECO:0000269|PubMed:27889062}. Cell junction, adherens junction {ECO:0000269|PubMed:27889062}.
uniprot
proteins