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Entry version 120 (31 Jul 2019)
Sequence version 2 (18 May 2010)
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Protein

Kelch domain-containing protein 7B

Gene

KLHDC7B

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

Annotation score:2 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 transcript 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

Caution

It is uncertain whether Met-1 or Met-100 is the initiator.Curated

<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 domain-containing protein 7B
<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:KLHDC7B
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25145 KLHDC7B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96G42

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
113730

Open Targets

More...
OpenTargetsi
ENSG00000130487

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671582

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHDC7B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434567

<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_00002290001 – 594Kelch domain-containing protein 7BAdd BLAST594

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96G42

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96G42

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

More...
PaxDbi
Q96G42

PeptideAtlas

More...
PeptideAtlasi
Q96G42

PRoteomics IDEntifications database

More...
PRIDEi
Q96G42

ProteomicsDB human proteome resource

More...
ProteomicsDBi
76592

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96G42

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

More...
PhosphoSitePlusi
Q96G42

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130487 Expressed in 85 organ(s), highest expression level in nasal cavity epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96G42 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96G42 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000518

<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

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q96G42, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379034

<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 ‘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>Repeati306 – 354Kelch 1Add BLAST49
Repeati355 – 405Kelch 2Add BLAST51
Repeati406 – 448Kelch 3Add BLAST43
Repeati451 – 493Kelch 4Add BLAST43
Repeati495 – 538Kelch 5Add BLAST44

<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>Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1072 Eukaryota
ENOG4110X8D LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163480

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000246990

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96G42

Identification of Orthologs from Complete Genome Data

More...
OMAi
CLYSMEC

Database of Orthologous Groups

More...
OrthoDBi
594274at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96G42

TreeFam database of animal gene trees

More...
TreeFami
TF328485

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
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01344 Kelch_1, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00612 Kelch, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281 SSF117281, 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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q96G42-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVLRSHPFPR QDRPQGSVPR AVPGSPVGPS TSTHSEDRHG PSSSVGTVIG
60 70 80 90 100
TGTGGLVEAG GQPQPRSSET NGSPSPDPPP GLRGEGTREK SLDPLPQAAM
110 120 130 140 150
PRGPAQPPAQ RPPGPAASSS ARRSQPVPQL RKRSRCEIAP SSEQEVRPAA
160 170 180 190 200
SGDPQGEAPG EGGSPAGRSG ALTEKQEEAR KLMVFLQRPG GWGVVEGPRK
210 220 230 240 250
PSSRALEPAT AAALRRRLDL GSCLDVLAFA QQHGEPGLAQ ETYALMSDNL
260 270 280 290 300
LRVLGDPCLY RRLSAADRER ILSLRTGRGR AVLGVLVLPS LYQGGRSGLP
310 320 330 340 350
RGPRGEEPPA AAPVSLPLPA HLHVFNPREN TWRPLTQVPE EAPLRGCGLC
360 370 380 390 400
TMHNYLFLAG GIRGSGAKAV CSNEVFCYNP LTNIWSQVRP MQQARAQLKL
410 420 430 440 450
VALDGLLYAI GGECLYSMEC YDPRTDAWTP RAPLPAGTFP VAHEAVACRG
460 470 480 490 500
DIYVTGGHLF YRLLRYSPVK DAWDECPYSA SHRRSSDIVA LGGFLYRFDL
510 520 530 540 550
LRGVGAAVMR YNTVTGSWSR AASLPLPAPA PLHCTTLGNT IYCLNPQVTA
560 570 580 590
TFTVSGGTAQ FQAKELQPFP LGSTGVLSPF ILTLPPEDRL QTSL
Length:594
Mass (Da):63,314
Last modified:May 18, 2010 - 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:i2C681C6B95567559
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ISF6A0A3B3ISF6_HUMAN
Kelch domain-containing protein 7B
KLHDC7B
1,235Annotation 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 AAH09980 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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
U62317 Genomic DNA No translation available.
BC009980 mRNA Translation: AAH09980.1 Different initiation.

NCBI Reference Sequences

More...
RefSeqi
NP_612442.2, NM_138433.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000395676; ENSP00000379034; ENSG00000130487

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
113730

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:113730

UCSC genome browser

More...
UCSCi
uc003bmi.3 human

<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
U62317 Genomic DNA No translation available.
BC009980 mRNA Translation: AAH09980.1 Different initiation.
RefSeqiNP_612442.2, NM_138433.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ96G42, 24 interactors
STRINGi9606.ENSP00000379034

PTM databases

iPTMnetiQ96G42
PhosphoSitePlusiQ96G42

Polymorphism and mutation databases

BioMutaiKLHDC7B
DMDMi296434567

Proteomic databases

EPDiQ96G42
jPOSTiQ96G42
PaxDbiQ96G42
PeptideAtlasiQ96G42
PRIDEiQ96G42
ProteomicsDBi76592

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
113730
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395676; ENSP00000379034; ENSG00000130487
GeneIDi113730
KEGGihsa:113730
UCSCiuc003bmi.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
113730
DisGeNETi113730

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KLHDC7B
HGNCiHGNC:25145 KLHDC7B
HPAiHPA000518
neXtProtiNX_Q96G42
OpenTargetsiENSG00000130487
PharmGKBiPA142671582

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1072 Eukaryota
ENOG4110X8D LUCA
GeneTreeiENSGT00940000163480
HOGENOMiHOG000246990
InParanoidiQ96G42
OMAiCLYSMEC
OrthoDBi594274at2759
PhylomeDBiQ96G42
TreeFamiTF328485

Miscellaneous databases

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

More...
GenomeRNAii
113730

Protein Ontology

More...
PROi
PR:Q96G42

Gene expression databases

BgeeiENSG00000130487 Expressed in 85 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiQ96G42 baseline and differential
GenevisibleiQ96G42 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
PfamiView protein in Pfam
PF01344 Kelch_1, 2 hits
SMARTiView protein in SMART
SM00612 Kelch, 3 hits
SUPFAMiSSF117281 SSF117281, 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 nameiKLD7B_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: Q96G42
<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: May 18, 2010
Last modified: July 31, 2019
This is version 120 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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