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Entry version 153 (16 Oct 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Kelch-like protein 7

Gene

KLHL7

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. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

<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 - Molecular functioni

  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: UniProtKB

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

Biological processUbl conjugation pathway

Enzyme and pathway databases

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<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 7
<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:KLHL7
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15646 KLHL7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611119 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IXQ5

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

Crisponi/Cold-induced sweating syndrome 3 (CISS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cold-induced sweating syndrome, an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
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_077161372R → Q in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255558EnsemblClinVar.1
Natural variantiVAR_077162420R → C in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs780705654EnsemblClinVar.1
Natural variantiVAR_077163421C → S in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255556EnsemblClinVar.1
Retinitis pigmentosa 42 (RP42)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060672150S → N in RP42. 2 PublicationsCorresponds to variant dbSNP:rs137853112EnsemblClinVar.1
Natural variantiVAR_060673153A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 PublicationsCorresponds to variant dbSNP:rs137853114EnsemblClinVar.1
Natural variantiVAR_060674153A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 4 PublicationsCorresponds to variant dbSNP:rs137853113EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
55975

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

More...
GeneReviewsi
KLHL7

MalaCards human disease database

More...
MalaCardsi
KLHL7
MIMi612943 phenotype
617055 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000122550

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

More...
Orphaneti
97297 Bohring-Opitz syndrome
157820 Cold-induced sweating syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38392

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IXQ5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHL7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242609

<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_00002289881 – 586Kelch-like protein 7Add BLAST586

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IXQ5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IXQ5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IXQ5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IXQ5

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

More...
PaxDbi
Q8IXQ5

PeptideAtlas

More...
PeptideAtlasi
Q8IXQ5

PRoteomics IDEntifications database

More...
PRIDEi
Q8IXQ5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
33929
71041 [Q8IXQ5-1]
71042 [Q8IXQ5-2]
71043 [Q8IXQ5-3]
71044 [Q8IXQ5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IXQ5

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

More...
PhosphoSitePlusi
Q8IXQ5

<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

Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000122550 Expressed in 214 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IXQ5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IXQ5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029491
HPA029492

<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

Homodimer.

Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.

1 Publication

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121021, 31 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8IXQ5

Protein interaction database and analysis system

More...
IntActi
Q8IXQ5, 27 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000343273

<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

1586
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

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SMRi
Q8IXQ5

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8IXQ5

<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>Domaini44 – 111BTBPROSITE-ProRule annotationAdd BLAST68
Domaini146 – 248BACKAdd 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>Repeati294 – 336Kelch 1Add BLAST43
Repeati337 – 382Kelch 2Add BLAST46
Repeati383 – 430Kelch 3Add BLAST48
Repeati431 – 481Kelch 4Add BLAST51
Repeati483 – 528Kelch 5Add BLAST46
Repeati530 – 575Kelch 6Add BLAST46

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4441 Eukaryota
ENOG410XNX8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155602

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230816

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IXQ5

KEGG Orthology (KO)

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KOi
K10445

Identification of Orthologs from Complete Genome Data

More...
OMAi
FPLVSKN

Database of Orthologous Groups

More...
OrthoDBi
293214at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IXQ5

TreeFam database of animal gene trees

More...
TreeFami
TF351653

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030599 KLHL7
IPR011333 SKP1/BTB/POZ_sf

The PANTHER Classification System

More...
PANTHERi
PTHR24412:SF435 PTHR24412:SF435, 1 hit

Pfam protein domain database

More...
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

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>. 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 (5+)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 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IXQ5-1) [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
MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV
60 70 80 90 100
QERKIPAHRV VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE
110 120 130 140 150
FAYTARISVN SNNVQSLLDA ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS
160 170 180 190 200
VLAECLDCPE LKATADDFIH QHFTEVYKTD EFLQLDVKRV THLLNQDTLT
210 220 230 240 250
VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK NFLSKTVQAE
260 270 280 290 300
PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG
310 320 330 340 350
SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK
360 370 380 390 400
RMDCYNVVKD SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF
410 420 430 440 450
ECYDTRTESW HTKPSMLTQR CSHGMVEANG LIYVCGGSLG NNVSGRVLNS
460 470 480 490 500
CEVYDPATET WTELCPMIEA RKNHGLVFVK DKIFAVGGQN GLGGLDNVEY
510 520 530 540 550
YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG RLGHILEYNT
560 570 580
ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET
Length:586
Mass (Da):65,992
Last modified:October 17, 2006 - 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:iFA4ED8F1567AC7A8
GO
Isoform 2 (identifier: Q8IXQ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK

Show »
Length:564
Mass (Da):63,601
Checksum:iD5FFE152DEA3D63E
GO
Isoform 3 (identifier: Q8IXQ5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:166
Mass (Da):18,568
Checksum:iD48BE4F0B94F1386
GO
Isoform 4 (identifier: Q8IXQ5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:144
Mass (Da):16,177
Checksum:i90CD7ACD869455D7
GO
Isoform 5 (identifier: Q8IXQ5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Show »
Length:538
Mass (Da):60,725
Checksum:i8B7ABA54C28D56C1
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C259H7C259_HUMAN
Kelch-like protein 7
KLHL7
93Annotation 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>
E5RFN1E5RFN1_HUMAN
Kelch-like protein 7
KLHL7
40Annotation 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>

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 conflicti85V → L in AAH39585 (PubMed:15489334).Curated1
Sequence conflicti138K → R in BAB71175 (PubMed:14702039).Curated1
Sequence conflicti507E → D in BAH12925 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060672150S → N in RP42. 2 PublicationsCorresponds to variant dbSNP:rs137853112EnsemblClinVar.1
Natural variantiVAR_060673153A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 PublicationsCorresponds to variant dbSNP:rs137853114EnsemblClinVar.1
Natural variantiVAR_060674153A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 4 PublicationsCorresponds to variant dbSNP:rs137853113EnsemblClinVar.1
Natural variantiVAR_060675255D → N in a patient with retinitis pigmentosa; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1227070758Ensembl.1
Natural variantiVAR_077161372R → Q in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255558EnsemblClinVar.1
Natural variantiVAR_077162420R → C in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs780705654EnsemblClinVar.1
Natural variantiVAR_077163421C → S in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255556EnsemblClinVar.1
Natural variantiVAR_060676423H → Y1 Publication1
Natural variantiVAR_060677472K → Q in a patient with retinitis pigmentosa; uncertain pathological significance. 1 Publication1
Isoform 2 (identifier: Q8IXQ5-2)
Natural varianti18K → R. Corresponds to variant dbSNP:rs17147682Ensembl.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_0469741 – 48Missing in isoform 5. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0384161 – 40MAASG…NMRKQ → MLGGTDCRTFLTSHINLK in isoform 2 and isoform 4. 3 PublicationsAdd BLAST40
Alternative sequenceiVSP_038417149 – 166ISVLA…KATAD → EAEKVDQSLPECGMLFTV in isoform 3 and isoform 4. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_038418167 – 586Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST420

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

More...
DDBJi
Links Updated
AF111113 mRNA Translation: AAF27196.1
AL136597 mRNA Translation: CAB66532.1
AK056390 mRNA Translation: BAB71175.1
AK299006 mRNA Translation: BAH12925.1
EF560731 mRNA Translation: ABQ59041.1
AC005082 Genomic DNA No translation available.
AC006039 Genomic DNA Translation: AAO21916.1
AC073992 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24261.1
CH471073 Genomic DNA Translation: EAW93770.1
CH471073 Genomic DNA Translation: EAW93773.1
CH471073 Genomic DNA Translation: EAW93774.1
BC009555 mRNA Translation: AAH09555.1
BC039585 mRNA Translation: AAH39585.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34609.1 [Q8IXQ5-1]
CCDS5378.2 [Q8IXQ5-5]
CCDS55095.1 [Q8IXQ5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001026880.2, NM_001031710.2 [Q8IXQ5-1]
NP_001165899.1, NM_001172428.1 [Q8IXQ5-3]
NP_061334.4, NM_018846.4 [Q8IXQ5-5]
XP_016867928.1, XM_017012439.1 [Q8IXQ5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000322275; ENSP00000323270; ENSG00000122550 [Q8IXQ5-3]
ENST00000339077; ENSP00000343273; ENSG00000122550 [Q8IXQ5-1]
ENST00000409689; ENSP00000386263; ENSG00000122550 [Q8IXQ5-5]
ENST00000410047; ENSP00000386999; ENSG00000122550 [Q8IXQ5-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55975

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55975

UCSC genome browser

More...
UCSCi
uc003svq.4 human [Q8IXQ5-1]

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
AF111113 mRNA Translation: AAF27196.1
AL136597 mRNA Translation: CAB66532.1
AK056390 mRNA Translation: BAB71175.1
AK299006 mRNA Translation: BAH12925.1
EF560731 mRNA Translation: ABQ59041.1
AC005082 Genomic DNA No translation available.
AC006039 Genomic DNA Translation: AAO21916.1
AC073992 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24261.1
CH471073 Genomic DNA Translation: EAW93770.1
CH471073 Genomic DNA Translation: EAW93773.1
CH471073 Genomic DNA Translation: EAW93774.1
BC009555 mRNA Translation: AAH09555.1
BC039585 mRNA Translation: AAH39585.1
CCDSiCCDS34609.1 [Q8IXQ5-1]
CCDS5378.2 [Q8IXQ5-5]
CCDS55095.1 [Q8IXQ5-3]
RefSeqiNP_001026880.2, NM_001031710.2 [Q8IXQ5-1]
NP_001165899.1, NM_001172428.1 [Q8IXQ5-3]
NP_061334.4, NM_018846.4 [Q8IXQ5-5]
XP_016867928.1, XM_017012439.1 [Q8IXQ5-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3II7X-ray1.63A283-586[»]
SMRiQ8IXQ5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121021, 31 interactors
CORUMiQ8IXQ5
IntActiQ8IXQ5, 27 interactors
STRINGi9606.ENSP00000343273

PTM databases

iPTMnetiQ8IXQ5
PhosphoSitePlusiQ8IXQ5

Polymorphism and mutation databases

BioMutaiKLHL7
DMDMi116242609

Proteomic databases

EPDiQ8IXQ5
jPOSTiQ8IXQ5
MassIVEiQ8IXQ5
MaxQBiQ8IXQ5
PaxDbiQ8IXQ5
PeptideAtlasiQ8IXQ5
PRIDEiQ8IXQ5
ProteomicsDBi33929
71041 [Q8IXQ5-1]
71042 [Q8IXQ5-2]
71043 [Q8IXQ5-3]
71044 [Q8IXQ5-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55975

Genome annotation databases

EnsembliENST00000322275; ENSP00000323270; ENSG00000122550 [Q8IXQ5-3]
ENST00000339077; ENSP00000343273; ENSG00000122550 [Q8IXQ5-1]
ENST00000409689; ENSP00000386263; ENSG00000122550 [Q8IXQ5-5]
ENST00000410047; ENSP00000386999; ENSG00000122550 [Q8IXQ5-4]
GeneIDi55975
KEGGihsa:55975
UCSCiuc003svq.4 human [Q8IXQ5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55975
DisGeNETi55975

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KLHL7
GeneReviewsiKLHL7
HGNCiHGNC:15646 KLHL7
HPAiHPA029491
HPA029492
MalaCardsiKLHL7
MIMi611119 gene
612943 phenotype
617055 phenotype
neXtProtiNX_Q8IXQ5
OpenTargetsiENSG00000122550
Orphaneti97297 Bohring-Opitz syndrome
157820 Cold-induced sweating syndrome
791 Retinitis pigmentosa
PharmGKBiPA38392

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00940000155602
HOGENOMiHOG000230816
InParanoidiQ8IXQ5
KOiK10445
OMAiFPLVSKN
OrthoDBi293214at2759
PhylomeDBiQ8IXQ5
TreeFamiTF351653

Enzyme and pathway databases

UniPathwayiUPA00143

Miscellaneous databases

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

More...
ChiTaRSi
KLHL7 human
EvolutionaryTraceiQ8IXQ5

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KLHL7

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

More...
GenomeRNAii
55975
PharosiQ8IXQ5

Protein Ontology

More...
PROi
PR:Q8IXQ5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122550 Expressed in 214 organ(s), highest expression level in oocyte
ExpressionAtlasiQ8IXQ5 baseline and differential
GenevisibleiQ8IXQ5 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
IPR030599 KLHL7
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF435 PTHR24412:SF435, 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

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiKLHL7_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: Q8IXQ5
Secondary accession number(s): A4D144
, B7Z5I9, G5E9G3, Q7Z765, Q96MV2, Q9BQF8, Q9UDQ9
<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: March 21, 2006
Last sequence update: October 17, 2006
Last modified: October 16, 2019
This is version 153 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 chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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