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Entry version 122 (08 May 2019)
Sequence version 2 (18 May 2010)
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Protein

Kelch domain-containing protein 8A

Gene

KLHDC8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation 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 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 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 8A
Alternative name(s):
Substitute for delta-EGFR expression 1
Short name:
S-delta-E1
<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:KLHDC8A
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25573 KLHDC8A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614503 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IYD2

<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

Open Targets

More...
OpenTargetsi
ENSG00000162873

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671583

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHDC8A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434568

<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_00002290011 – 350Kelch domain-containing protein 8AAdd BLAST350

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IYD2

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

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PaxDbi
Q8IYD2

PeptideAtlas

More...
PeptideAtlasi
Q8IYD2

PRoteomics IDEntifications database

More...
PRIDEi
Q8IYD2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71157

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IYD2

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

More...
PhosphoSitePlusi
Q8IYD2

<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
ENSG00000162873 Expressed in 140 organ(s), highest expression level in left ovary

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IYD2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IYD2 HS

<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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120516, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IYD2, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356124

<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>Repeati1 – 31Kelch 1Add BLAST31
Repeati32 – 79Kelch 2Add BLAST48
Repeati81 – 127Kelch 3Add BLAST47
Repeati128 – 175Kelch 4Add BLAST48
Repeati176 – 222Kelch 5Add BLAST47
Repeati224 – 278Kelch 6Add BLAST55
Repeati279 – 326Kelch 7Add BLAST48

<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
ENSGT00940000160742

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000065733

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IYD2

Identification of Orthologs from Complete Genome Data

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OMAi
QQYDLRK

Database of Orthologous Groups

More...
OrthoDBi
1562595at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IYD2

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.120.10.80, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011043 Gal_Oxase/kelch_b-propeller
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01344 Kelch_1, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00612 Kelch, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281 SSF117281, 1 hit
SSF50965 SSF50965, 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 6 potential isoforms that are computationally mapped.Show allAlign All

Q8IYD2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEVPNVKDFQ WKRLAPLPSR RVYCSLLETG GQVYAIGGCD DNGVPMDCFE
60 70 80 90 100
VYSPEADQWT ALPRLPTARA GVAVTALGKR IMVIGGVGTN QLPLKVVEMY
110 120 130 140 150
NIDEGKWKKR SMLREAAMGI SVTAKDYRVY AAGGMGLDLR PHNHLQHYDM
160 170 180 190 200
LKDMWVSLAP MPTPRYAATS FLRGSKIYVL GGRQSKYAVN AFEVFDIETR
210 220 230 240 250
SWTKFPNIPY KRAFSSFVTL DNHLYSLGGL RQGRLYRQPK FLRTMDVFDM
260 270 280 290 300
EQGGWLKMER SFFLKKRRAD FVAGSLSGRV IVAGGLGNQP TVLETAEAFH
310 320 330 340 350
PGKNKWEILP AMPTPRCACS SIVVKNCLLA VGGVNQGLSD AVEALCVSDS
Length:350
Mass (Da):38,859
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:i18F980074F22074B
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
U3KQH1U3KQH1_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
216Annotation 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>
U3KQC2U3KQC2_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
175Annotation 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>
U3KQI4U3KQI4_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
83Annotation 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>
U3KPW1U3KPW1_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
79Annotation 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>
U3KPX9U3KPX9_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
66Annotation 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>
U3KQK4U3KQK4_HUMAN
Kelch domain-containing protein 8A
KLHDC8A
26Annotation 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 conflicti160P → H in AAH36076 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK001610 mRNA Translation: BAA91787.1
AK096590 mRNA Translation: BAG53332.1
AC098933 Genomic DNA No translation available.
AC098936 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91550.1
BC036076 mRNA Translation: AAH36076.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30985.1

NCBI Reference Sequences

More...
RefSeqi
NP_001258792.1, NM_001271863.1
NP_001258793.1, NM_001271864.1
NP_001258794.1, NM_001271865.1
NP_060673.1, NM_018203.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367155; ENSP00000356123; ENSG00000162873
ENST00000367156; ENSP00000356124; ENSG00000162873
ENST00000539253; ENSP00000442229; ENSG00000162873

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55220

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55220

UCSC genome browser

More...
UCSCi
uc001hcf.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
AK001610 mRNA Translation: BAA91787.1
AK096590 mRNA Translation: BAG53332.1
AC098933 Genomic DNA No translation available.
AC098936 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91550.1
BC036076 mRNA Translation: AAH36076.1
CCDSiCCDS30985.1
RefSeqiNP_001258792.1, NM_001271863.1
NP_001258793.1, NM_001271864.1
NP_001258794.1, NM_001271865.1
NP_060673.1, NM_018203.2

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

BioGridi120516, 16 interactors
IntActiQ8IYD2, 2 interactors
STRINGi9606.ENSP00000356124

PTM databases

iPTMnetiQ8IYD2
PhosphoSitePlusiQ8IYD2

Polymorphism and mutation databases

BioMutaiKLHDC8A
DMDMi296434568

Proteomic databases

jPOSTiQ8IYD2
PaxDbiQ8IYD2
PeptideAtlasiQ8IYD2
PRIDEiQ8IYD2
ProteomicsDBi71157

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55220
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367155; ENSP00000356123; ENSG00000162873
ENST00000367156; ENSP00000356124; ENSG00000162873
ENST00000539253; ENSP00000442229; ENSG00000162873
GeneIDi55220
KEGGihsa:55220
UCSCiuc001hcf.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55220

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KLHDC8A
HGNCiHGNC:25573 KLHDC8A
MIMi614503 gene
neXtProtiNX_Q8IYD2
OpenTargetsiENSG00000162873
PharmGKBiPA142671583

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1072 Eukaryota
ENOG4110X8D LUCA
GeneTreeiENSGT00940000160742
HOGENOMiHOG000065733
InParanoidiQ8IYD2
OMAiQQYDLRK
OrthoDBi1562595at2759
PhylomeDBiQ8IYD2

Miscellaneous databases

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

More...
ChiTaRSi
KLHDC8A human

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

More...
GenomeRNAii
55220

Protein Ontology

More...
PROi
PR:Q8IYD2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162873 Expressed in 140 organ(s), highest expression level in left ovary
ExpressionAtlasiQ8IYD2 baseline and differential
GenevisibleiQ8IYD2 HS

Family and domain databases

Gene3Di2.120.10.80, 2 hits
InterProiView protein in InterPro
IPR011043 Gal_Oxase/kelch_b-propeller
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
PfamiView protein in Pfam
PF01344 Kelch_1, 3 hits
SMARTiView protein in SMART
SM00612 Kelch, 5 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF50965 SSF50965, 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 nameiKLD8A_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: Q8IYD2
Secondary accession number(s): B3KU70, Q9NVG5
<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: May 8, 2019
This is version 122 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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