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Entry version 115 (16 Oct 2019)
Sequence version 2 (06 Feb 2007)
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Protein

Kelch-like protein 40

Gene

KLHL40

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

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).By similarity1 Publication

<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

<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

Molecular functionDevelopmental protein
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 40Curated
Alternative name(s):
Kelch repeat and BTB domain-containing protein 5
Sarcosynapsin1 Publication
<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:KLHL40Imported
Synonyms:KBTBD5, SRYP1 Publication
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30372 KLHL40

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615340 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q2TBA0

<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

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

Nemaline myopathy 8 (NEM8)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06983634D → H in NEM8. 1 PublicationCorresponds to variant dbSNP:rs778565563Ensembl.1
Natural variantiVAR_06983786L → P in NEM8. 1 Publication1
Natural variantiVAR_069838194V → E in NEM8. 1 Publication1
Natural variantiVAR_077950201 – 621Missing in NEM8. 1 PublicationAdd BLAST421
Natural variantiVAR_069839201W → L in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509420EnsemblClinVar.1
Natural variantiVAR_069840311R → L in NEM8. 1 Publication1
Natural variantiVAR_069841397P → L in NEM8. 1 PublicationCorresponds to variant dbSNP:rs773649133Ensembl.1
Natural variantiVAR_069842455H → R in NEM8. 1 PublicationCorresponds to variant dbSNP:rs770866675Ensembl.1
Natural variantiVAR_069843469G → C in NEM8. 1 PublicationCorresponds to variant dbSNP:rs367579275EnsemblClinVar.1
Natural variantiVAR_077951500R → C in NEM8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758188096EnsemblClinVar.1
Natural variantiVAR_077952505A → P in NEM8. 1 Publication1
Natural variantiVAR_069844506T → P in NEM8. 2 PublicationsCorresponds to variant dbSNP:rs778022582Ensembl.1
Natural variantiVAR_069845528E → K in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509419EnsemblClinVar.1
Natural variantiVAR_069846538A → P in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509421EnsemblClinVar.1
Natural variantiVAR_069847588E → K in NEM8. 1 PublicationCorresponds to variant dbSNP:rs201856772EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
131377

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KLHL40

MalaCards human disease database

More...
MalaCardsi
KLHL40
MIMi615348 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000157119

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

More...
Orphaneti
171430 Severe congenital nemaline myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134908127

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q2TBA0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHL40

Domain mapping of disease mutations (DMDM)

More...
DMDMi
125950763

<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_00002742351 – 621Kelch-like protein 40Add BLAST621

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q2TBA0

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

More...
PaxDbi
Q2TBA0

PeptideAtlas

More...
PeptideAtlasi
Q2TBA0

PRoteomics IDEntifications database

More...
PRIDEi
Q2TBA0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61486 [Q2TBA0-1]
61487 [Q2TBA0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q2TBA0

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

More...
PhosphoSitePlusi
Q2TBA0

<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

Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000157119 Expressed in 70 organ(s), highest expression level in skeletal muscle tissue

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q2TBA0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024463
HPA052201

<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

Component of the BCR(KLHL40) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL40 and RBX1.

Interacts with LMOD3.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q7L590-23EBI-7851314,EBI-10233517

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
126278, 45 interactors

Protein interaction database and analysis system

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IntActi
Q2TBA0, 34 interactors

Molecular INTeraction database

More...
MINTi
Q2TBA0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000287777

<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

Secondary structure

1621
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q2TBA0

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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>Domaini33 – 98BTBPROSITE-ProRule annotationAdd BLAST66
Domaini133 – 239BACKAdd BLAST107
<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>Repeati360 – 412Kelch 1Add BLAST53
Repeati413 – 462Kelch 2Add BLAST50
Repeati463 – 510Kelch 3Add BLAST48
Repeati512 – 557Kelch 4Add BLAST46
Repeati559 – 613Kelch 5Add BLAST55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi270 – 275Poly-Lys6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the KLHL40 family.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4441 Eukaryota
ENOG410XNX8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156360

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231966

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q2TBA0

KEGG Orthology (KO)

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KOi
K10473

Identification of Orthologs from Complete Genome Data

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OMAi
IWRYNED

Database of Orthologous Groups

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OrthoDBi
946131at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q2TBA0

TreeFam database of animal gene trees

More...
TreeFami
TF351653

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
IPR030607 KLHL40
IPR011333 SKP1/BTB/POZ_sf

The PANTHER Classification System

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PANTHERi
PTHR24412:SF22 PTHR24412:SF22, 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, 3 hits

PIRSF; a whole-protein classification database

More...
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, 4 hits

Superfamily database of structural and functional annotation

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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>. The information is filed in different subsections. The current subsections and their content are listed below:<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
Isoform 1 (identifier: Q2TBA0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV
60 70 80 90 100
LAACSPYFRA RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS
110 120 130 140 150
VQDLFAAAHR FQIPSIFTIC VSFLQKRLCL SNCLAVFRLG LLLDCARLAV
160 170 180 190 200
AARDFICAHF TLVARDADFL GLSADELIAI ISSDGLNVEK EEAVFEAVMR
210 220 230 240 250
WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER HPLVRAQPEL
260 270 280 290 300
LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER
310 320 330 340 350
ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN
360 370 380 390 400
HVSLVTKENQ VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS
410 420 430 440 450
PRCLFGLGEA LNSIYVVGGR EIKDGERCLD SVMCYDRLSF KWGESDPLPY
460 470 480 490 500
VVYGHTVLSH MDLVYVIGGK GSDRKCLNKM CVYDPKKFEW KELAPMQTAR
510 520 530 540 550
SLFGATVHDG RIIVAAGVTD TGLTSSAEVY SITDNKWAPF EAFPQERSSL
560 570 580 590 600
SLVSLVGTLY AIGGFATLET ESGELVPTEL NDIWRYNEEE KKWEGVLREI
610 620
AYAAGATFLP VRLNVLCLTK M
Length:621
Mass (Da):69,257
Last modified:February 6, 2007 - v2
<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:i53492478F08A5A2D
GO
Isoform 2 (identifier: Q2TBA0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     444-604: ESDPLPYVVY...GVLREIAYAA → HRHRADQFCRSVQHHRQQVGTLRGLPTGA
     605-621: Missing.

Note: No experimental confirmation available.
Show »
Length:472
Mass (Da):52,893
Checksum:i6A64676A03325797
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06983634D → H in NEM8. 1 PublicationCorresponds to variant dbSNP:rs778565563Ensembl.1
Natural variantiVAR_06983786L → P in NEM8. 1 Publication1
Natural variantiVAR_069838194V → E in NEM8. 1 Publication1
Natural variantiVAR_077950201 – 621Missing in NEM8. 1 PublicationAdd BLAST421
Natural variantiVAR_069839201W → L in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509420EnsemblClinVar.1
Natural variantiVAR_069840311R → L in NEM8. 1 Publication1
Natural variantiVAR_030214345N → S2 PublicationsCorresponds to variant dbSNP:rs6805421EnsemblClinVar.1
Natural variantiVAR_069841397P → L in NEM8. 1 PublicationCorresponds to variant dbSNP:rs773649133Ensembl.1
Natural variantiVAR_069842455H → R in NEM8. 1 PublicationCorresponds to variant dbSNP:rs770866675Ensembl.1
Natural variantiVAR_069843469G → C in NEM8. 1 PublicationCorresponds to variant dbSNP:rs367579275EnsemblClinVar.1
Natural variantiVAR_077951500R → C in NEM8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758188096EnsemblClinVar.1
Natural variantiVAR_077952505A → P in NEM8. 1 Publication1
Natural variantiVAR_069844506T → P in NEM8. 2 PublicationsCorresponds to variant dbSNP:rs778022582Ensembl.1
Natural variantiVAR_069845528E → K in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509419EnsemblClinVar.1
Natural variantiVAR_069846538A → P in NEM8. 1 PublicationCorresponds to variant dbSNP:rs397509421EnsemblClinVar.1
Natural variantiVAR_069847588E → K in NEM8. 1 PublicationCorresponds to variant dbSNP:rs201856772EnsemblClinVar.1
Natural variantiVAR_030215617C → R1 PublicationCorresponds to variant dbSNP:rs123509EnsemblClinVar.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_022681444 – 604ESDPL…IAYAA → HRHRADQFCRSVQHHRQQVG TLRGLPTGA in isoform 2. 1 PublicationAdd BLAST161
Alternative sequenceiVSP_022682605 – 621Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
AY177390 mRNA Translation: AAO06908.1
AY176040 mRNA Translation: AAO22141.1
AK056577 mRNA Translation: BAB71222.1
BC110491 mRNA Translation: AAI10492.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2703.1 [Q2TBA0-1]

NCBI Reference Sequences

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RefSeqi
NP_689606.2, NM_152393.3 [Q2TBA0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000287777; ENSP00000287777; ENSG00000157119 [Q2TBA0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
131377

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:131377

UCSC genome browser

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UCSCi
uc003clv.2 human [Q2TBA0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY177390 mRNA Translation: AAO06908.1
AY176040 mRNA Translation: AAO22141.1
AK056577 mRNA Translation: BAB71222.1
BC110491 mRNA Translation: AAI10492.1
CCDSiCCDS2703.1 [Q2TBA0-1]
RefSeqiNP_689606.2, NM_152393.3 [Q2TBA0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ASCX-ray1.78A314-621[»]
SMRiQ2TBA0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi126278, 45 interactors
IntActiQ2TBA0, 34 interactors
MINTiQ2TBA0
STRINGi9606.ENSP00000287777

PTM databases

iPTMnetiQ2TBA0
PhosphoSitePlusiQ2TBA0

Polymorphism and mutation databases

BioMutaiKLHL40
DMDMi125950763

Proteomic databases

MassIVEiQ2TBA0
PaxDbiQ2TBA0
PeptideAtlasiQ2TBA0
PRIDEiQ2TBA0
ProteomicsDBi61486 [Q2TBA0-1]
61487 [Q2TBA0-2]

Genome annotation databases

EnsembliENST00000287777; ENSP00000287777; ENSG00000157119 [Q2TBA0-1]
GeneIDi131377
KEGGihsa:131377
UCSCiuc003clv.2 human [Q2TBA0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
131377
DisGeNETi131377

GeneCards: human genes, protein and diseases

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GeneCardsi
KLHL40
GeneReviewsiKLHL40
HGNCiHGNC:30372 KLHL40
HPAiHPA024463
HPA052201
MalaCardsiKLHL40
MIMi615340 gene
615348 phenotype
neXtProtiNX_Q2TBA0
OpenTargetsiENSG00000157119
Orphaneti171430 Severe congenital nemaline myopathy
PharmGKBiPA134908127

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00940000156360
HOGENOMiHOG000231966
InParanoidiQ2TBA0
KOiK10473
OMAiIWRYNED
OrthoDBi946131at2759
PhylomeDBiQ2TBA0
TreeFamiTF351653

Miscellaneous databases

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

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ChiTaRSi
KLHL40 human

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

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GenomeRNAii
131377
PharosiQ2TBA0

Protein Ontology

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PROi
PR:Q2TBA0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000157119 Expressed in 70 organ(s), highest expression level in skeletal muscle tissue
GenevisibleiQ2TBA0 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
IPR030607 KLHL40
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF22 PTHR24412:SF22, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 4 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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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiKLH40_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: Q2TBA0
Secondary accession number(s): Q86SI1, Q96MR2
<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: February 6, 2007
Last sequence update: February 6, 2007
Last modified: October 16, 2019
This is version 115 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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