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Protein

Kelch-like protein 24

Gene

KLHL24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • intermediate filament organization Source: UniProtKB
  • protein autoubiquitination Source: UniProtKB
  • protein ubiquitination Source: UniProtKB
  • regulation of kainate selective glutamate receptor activity Source: InterPro

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processUbl conjugation pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kelch-like protein 24
Alternative name(s):
Kainate receptor-interacting protein for GluR6
Short name:
KRIP6
Protein DRE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KLHL24
Synonyms:DRE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000114796.15

Human Gene Nomenclature Database

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HGNCi
HGNC:25947 KLHL24

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611295 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6TFL4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epidermolysis bullosa simplex, generalized, with scarring and hair loss (EBSSH)2 Publications
The disease is caused by mutations 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.1 Publication
Disease descriptionA form of epidermolysis bullosa, a group of mechano-bullous disorders characterized by structural skin fragility, recurrent blister formation and erosion of the skin and mucous membranes occurring spontaneously or after mild trauma. Epidermolysis bullosa simplex is characterized by intraepidermal tissue separation that occurs within the basal keratinocytes at the bottom layer of epidermis. EBSSH is an autosomal dominant epidermolysis bullosa simplex, 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.
See also OMIM:617294

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi32K → R: Increased protein stability. 1 Publication1
Mutagenesisi90Y → A: Weak interaction with CUL3. Weak autoubiquitination. 1 Publication1
Mutagenesisi175A → V: Weak interaction with CUL3. Weak autoubiquitination. 1 Publication1

Keywords - Diseasei

Epidermolysis bullosa

Organism-specific databases

MalaCards human disease database

More...
MalaCardsi
KLHL24
MIMi617294 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000114796

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
508529 Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671576

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHL24

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74722812

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002615941 – 600Kelch-like protein 24Add BLAST600

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autoubiquitinated. Autoubiquitination leads to proteasomal degradation and is necessary to control KLHL24 levels.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6TFL4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6TFL4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q6TFL4

PeptideAtlas

More...
PeptideAtlasi
Q6TFL4

PRoteomics IDEntifications database

More...
PRIDEi
Q6TFL4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67392
67393 [Q6TFL4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6TFL4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6TFL4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the skin (PubMed:27889062, PubMed:27798626). Found in keratinocytes, dermal fibroblasts, and melanocytes (PubMed:27889062). Basal-layer keratinocytes have lower KLHL24 expression than suprabasal keratinocytes (PubMed:27798626).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114796 Expressed in 238 organ(s), highest expression level in epithelium of mammary gland

CleanEx database of gene expression profiles

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CleanExi
HS_KLHL24

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6TFL4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6TFL4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA056337

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homodimers. Interacts with GRIK2 (By similarity). Component of the BCR(KLHL24) E3 ubiquitin ligase complex, composed of CUL3, RBX1 and KLHL24. Interacts with CUL3. Interacts with KRT14 (PubMed:27798626).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120159, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6TFL4

Protein interaction database and analysis system

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IntActi
Q6TFL4, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000242810

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q6TFL4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q6TFL4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini66 – 133BTBPROSITE-ProRule annotationAdd BLAST68
Domaini168 – 270BACKAdd BLAST103
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati314 – 363Kelch 1Add BLAST50
Repeati365 – 407Kelch 2Add BLAST43
Repeati408 – 454Kelch 3Add BLAST47
Repeati456 – 502Kelch 4Add BLAST47
Repeati504 – 544Kelch 5Add BLAST41
Repeati546 – 592Kelch 6Add BLAST47

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4441 Eukaryota
ENOG410XNX8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154345

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230817

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108068

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6TFL4

KEGG Orthology (KO)

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KOi
K10461

Identification of Orthologs from Complete Genome Data

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OMAi
WLLRATI

Database of Orthologous Groups

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OrthoDBi
EOG091G037V

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6TFL4

TreeFam database of animal gene trees

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TreeFami
TF351654

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030596 KLHL24
IPR011333 SKP1/BTB/POZ_sf

The PANTHER Classification System

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PANTHERi
PTHR24412:SF215 PTHR24412:SF215, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 5 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037037 Kelch-like_protein_gigaxonin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50097 BTB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6TFL4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVLILGRRLN REDLGVRDSP ATKRKVFEMD PKSLTGHEFF DFSSGSSHAE
60 70 80 90 100
NILQIFNEFR DSRLFTDVII CVEGKEFPCH RAVLSACSSY FRAMFCNDHR
110 120 130 140 150
ESREMLVEIN GILAEAMECF LQYVYTGKVK ITTENVQYLF ETSSLFQISV
160 170 180 190 200
LRDACAKFLE EQLDPCNCLG IQRFADTHSL KTLFTKCKNF ALQTFEDVSQ
210 220 230 240 250
HEEFLELDKD ELIDYICSDE LVIGKEEMVF EAVMRWVYRA VDLRRPLLHE
260 270 280 290 300
LLTHVRLPLL HPNYFVQTVE VDQLIQNSPE CYQLLHEARR YHILGNEMMS
310 320 330 340 350
PRTRPRRSTG YSEVIVVVGG CERVGGFNLP YTECYDPVTG EWKSLAKLPE
360 370 380 390 400
FTKSEYAVCA LRNDILVSGG RINSRDVWIY NSQLNIWIRV ASLNKGRWRH
410 420 430 440 450
KMAVLLGKVY VVGGYDGQNR LSSVECYDSF SNRWTEVAPL KEAVSSPAVT
460 470 480 490 500
SCVGKLFVIG GGPDDNTCSD KVQSYDPETN SWLLRAAIPI AKRCITAVSL
510 520 530 540 550
NNLIYVAGGL TKAIYCYDPV EDYWMHVQNT FSRQENCGMS VCNGKIYILG
560 570 580 590 600
GRRENGEATD TILCYDPATS IITGVAAMPR PVSYHGCVTI HRYNEKCFKL
Length:600
Mass (Da):68,361
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i54538E2BF447A56B
GO
Isoform 2 (identifier: Q6TFL4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     535-537: ENC → VIT
     538-600: Missing.

Note: No experimental confirmation available.
Show »
Length:537
Mass (Da):61,453
Checksum:i710C21C9D54A1E4E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J3M5C9J3M5_HUMAN
Kelch-like protein 24
KLHL24
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JCK3C9JCK3_HUMAN
Kelch-like protein 24
KLHL24
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J2N4C9J2N4_HUMAN
Kelch-like protein 24
KLHL24
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J0A6C9J0A6_HUMAN
Kelch-like protein 24
KLHL24
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JMQ9C9JMQ9_HUMAN
Kelch-like protein 24
KLHL24
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JQ67C9JQ67_HUMAN
Kelch-like protein 24
KLHL24
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JN72C9JN72_HUMAN
Kelch-like protein 24
KLHL24
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JXR5C9JXR5_HUMAN
Kelch-like protein 24
KLHL24
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA90921 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB15447 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti489P → R in BAA90921 (PubMed:14702039).Curated1
Sequence conflicti515Y → C in BAB15447 (PubMed:14702039).Curated1
Sequence conflicti536N → D in AAI42994 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_028644535 – 537ENC → VIT in isoform 2. 1 Publication3
Alternative sequenceiVSP_028645538 – 600Missing in isoform 2. 1 PublicationAdd BLAST63

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY422472 mRNA Translation: AAR13703.1
DQ925701 mRNA Translation: ABI96896.1
AK000066 mRNA Translation: BAA90921.1 Different initiation.
AK026326 mRNA Translation: BAB15447.1 Sequence problems.
BX648466 mRNA Translation: CAI46031.1
BX648812 mRNA Translation: CAI46002.1
BC142993 mRNA Translation: AAI42994.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3246.1 [Q6TFL4-1]

NCBI Reference Sequences

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RefSeqi
NP_060114.2, NM_017644.3 [Q6TFL4-1]
XP_005247609.1, XM_005247552.2 [Q6TFL4-1]
XP_005247610.1, XM_005247553.1
XP_005247611.1, XM_005247554.2
XP_005247612.1, XM_005247555.1
XP_005247613.1, XM_005247556.1
XP_011511240.1, XM_011512938.2
XP_016862148.1, XM_017006659.1
XP_016862149.1, XM_017006660.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.407709

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000242810; ENSP00000242810; ENSG00000114796 [Q6TFL4-1]
ENST00000454652; ENSP00000395012; ENSG00000114796 [Q6TFL4-1]
ENST00000476808; ENSP00000419010; ENSG00000114796 [Q6TFL4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54800

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54800

UCSC genome browser

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UCSCi
uc003flv.4 human [Q6TFL4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY422472 mRNA Translation: AAR13703.1
DQ925701 mRNA Translation: ABI96896.1
AK000066 mRNA Translation: BAA90921.1 Different initiation.
AK026326 mRNA Translation: BAB15447.1 Sequence problems.
BX648466 mRNA Translation: CAI46031.1
BX648812 mRNA Translation: CAI46002.1
BC142993 mRNA Translation: AAI42994.1
CCDSiCCDS3246.1 [Q6TFL4-1]
RefSeqiNP_060114.2, NM_017644.3 [Q6TFL4-1]
XP_005247609.1, XM_005247552.2 [Q6TFL4-1]
XP_005247610.1, XM_005247553.1
XP_005247611.1, XM_005247554.2
XP_005247612.1, XM_005247555.1
XP_005247613.1, XM_005247556.1
XP_011511240.1, XM_011512938.2
XP_016862148.1, XM_017006659.1
XP_016862149.1, XM_017006660.1
UniGeneiHs.407709

3D structure databases

ProteinModelPortaliQ6TFL4
SMRiQ6TFL4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120159, 26 interactors
CORUMiQ6TFL4
IntActiQ6TFL4, 6 interactors
STRINGi9606.ENSP00000242810

PTM databases

iPTMnetiQ6TFL4
PhosphoSitePlusiQ6TFL4

Polymorphism and mutation databases

BioMutaiKLHL24
DMDMi74722812

Proteomic databases

EPDiQ6TFL4
MaxQBiQ6TFL4
PaxDbiQ6TFL4
PeptideAtlasiQ6TFL4
PRIDEiQ6TFL4
ProteomicsDBi67392
67393 [Q6TFL4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242810; ENSP00000242810; ENSG00000114796 [Q6TFL4-1]
ENST00000454652; ENSP00000395012; ENSG00000114796 [Q6TFL4-1]
ENST00000476808; ENSP00000419010; ENSG00000114796 [Q6TFL4-2]
GeneIDi54800
KEGGihsa:54800
UCSCiuc003flv.4 human [Q6TFL4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54800
EuPathDBiHostDB:ENSG00000114796.15

GeneCards: human genes, protein and diseases

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GeneCardsi
KLHL24
HGNCiHGNC:25947 KLHL24
HPAiHPA056337
MalaCardsiKLHL24
MIMi611295 gene
617294 phenotype
neXtProtiNX_Q6TFL4
OpenTargetsiENSG00000114796
Orphaneti508529 Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
PharmGKBiPA142671576

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00940000154345
HOGENOMiHOG000230817
HOVERGENiHBG108068
InParanoidiQ6TFL4
KOiK10461
OMAiWLLRATI
OrthoDBiEOG091G037V
PhylomeDBiQ6TFL4
TreeFamiTF351654

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KLHL24 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54800

Protein Ontology

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PROi
PR:Q6TFL4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114796 Expressed in 238 organ(s), highest expression level in epithelium of mammary gland
CleanExiHS_KLHL24
ExpressionAtlasiQ6TFL4 baseline and differential
GenevisibleiQ6TFL4 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030596 KLHL24
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF215 PTHR24412:SF215, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 5 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 6 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKLH24_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6TFL4
Secondary accession number(s): A5PLN8, Q9H620, Q9NXT9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: July 5, 2004
Last modified: December 5, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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