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Entry version 134 (13 Feb 2019)
Sequence version 1 (01 Dec 2001)
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Protein

BTB/POZ domain-containing protein KCTD7

Gene

KCTD7

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

May be involved in the control of excitability of cortical neurons.By similarity

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

<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:
BTB/POZ domain-containing protein KCTD7
<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:KCTD7
<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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000243335.8

Human Gene Nomenclature Database

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HGNCi
HGNC:21957 KCTD7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611725 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96MP8

<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; Source: COMPARTMENTS

<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 - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<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

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.
See also OMIM:611726
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_06877694R → W in EPM3. 2 PublicationsCorresponds to variant dbSNP:rs387907260EnsemblClinVar.1
Natural variantiVAR_068777108L → M in EPM3. 2 PublicationsCorresponds to variant dbSNP:rs387907263EnsemblClinVar.1
Natural variantiVAR_068778115D → Y in EPM3; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907262EnsemblClinVar.1
Natural variantiVAR_068779184R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. 1 PublicationCorresponds to variant dbSNP:rs387907246EnsemblClinVar.1
Natural variantiVAR_068780273N → I in EPM3. 1 PublicationCorresponds to variant dbSNP:rs387907261EnsemblClinVar.1
Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565).1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
154881

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

More...
GeneReviewsi
KCTD7

MalaCards human disease database

More...
MalaCardsi
KCTD7
MIMi611726 phenotype

Open Targets

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OpenTargetsi
ENSG00000243335

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

More...
Orphaneti
263516 Progressive myoclonic epilepsy type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134884591

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCTD7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732414

<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_00002514761 – 289BTB/POZ domain-containing protein KCTD7Add BLAST289

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96MP8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96MP8

PeptideAtlas

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PeptideAtlasi
Q96MP8

PRoteomics IDEntifications database

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PRIDEi
Q96MP8

ProteomicsDB human proteome resource

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ProteomicsDBi
77385
77386 [Q96MP8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96MP8

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

More...
PhosphoSitePlusi
Q96MP8

<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

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Bgeei
ENSG00000243335 Expressed in 209 organ(s), highest expression level in C1 segment of cervical spinal cord

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96MP8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96MP8 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

<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

Interacts with CUL3.1 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127564, 7 interactors

Protein interaction database and analysis system

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IntActi
Q96MP8, 38 interactors

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96MP8

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

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SMRi
Q96MP8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini51 – 149BTBAdd BLAST99

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00940000161327

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113201

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052220

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96MP8

KEGG Orthology (KO)

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KOi
K21917

Identification of Orthologs from Complete Genome Data

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OMAi
HREAQYY

Database of Orthologous Groups

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OrthoDBi
1377258at2759

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02214 BTB_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00225 BTB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54695 SSF54695, 1 hit

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

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

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

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96MP8-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP
60 70 80 90 100
EVVPLNIGGA HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD
110 120 130 140 150
GTHFGDVLNF LRSGDLPPRE RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE
160 170 180 190 200
KVRQAFLGLM PYYKDHLERI VEIARLRAVQ RKARFAKLKV CVFKEEMPIT
210 220 230 240 250
PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD VYDLLHCLVT
260 270 280
DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW
Length:289
Mass (Da):33,132
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1F0D1F618CD5E459
GO
Isoform 2 (identifier: Q96MP8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     289-289: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):32,946
Checksum:i1D1F618CD5E45940
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JTB6C9JTB6_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
179Annotation 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>
A0A1W2PQL2A0A1W2PQL2_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
186Annotation 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>
A0A1X7SBW1A0A1X7SBW1_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
258Annotation 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>
A0A1W2PS30A0A1W2PS30_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
238Annotation 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>
A0A1W2PQ65A0A1W2PQ65_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
205Annotation 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>
A0A1W2PP71A0A1W2PP71_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
304Annotation 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>
A0A1W2PQB2A0A1W2PQB2_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
160Annotation 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>
A0A1W2PQM8A0A1W2PQM8_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
144Annotation 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>
A0A1W2PR57A0A1W2PR57_HUMAN
BTB/POZ domain-containing protein K...
KCTD7
137Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06877584R → W Probable disease-associated mutation found in a patient with opsoclonus-myoclonus ataxia-like syndrome. 1 PublicationCorresponds to variant dbSNP:rs754476100EnsemblClinVar.1
Natural variantiVAR_06877694R → W in EPM3. 2 PublicationsCorresponds to variant dbSNP:rs387907260EnsemblClinVar.1
Natural variantiVAR_068777108L → M in EPM3. 2 PublicationsCorresponds to variant dbSNP:rs387907263EnsemblClinVar.1
Natural variantiVAR_068778115D → Y in EPM3; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907262EnsemblClinVar.1
Natural variantiVAR_068779184R → C in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates. 1 PublicationCorresponds to variant dbSNP:rs387907246EnsemblClinVar.1
Natural variantiVAR_068780273N → I in EPM3. 1 PublicationCorresponds to variant dbSNP:rs387907261EnsemblClinVar.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_020760289Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK056631 mRNA Translation: BAB71236.1
CH236961 Genomic DNA Translation: EAL23735.1
CH471140 Genomic DNA Translation: EAX07919.1
BC042482 mRNA Translation: AAH42482.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS55117.1 [Q96MP8-2]
CCDS5534.1 [Q96MP8-1]

NCBI Reference Sequences

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RefSeqi
NP_001161433.1, NM_001167961.2 [Q96MP8-2]
NP_694578.1, NM_153033.4 [Q96MP8-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.546627

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000443322; ENSP00000411624; ENSG00000243335 [Q96MP8-2]
ENST00000639828; ENSP00000492240; ENSG00000243335 [Q96MP8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
154881

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:154881

UCSC genome browser

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UCSCi
uc003tvd.5 human [Q96MP8-1]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056631 mRNA Translation: BAB71236.1
CH236961 Genomic DNA Translation: EAL23735.1
CH471140 Genomic DNA Translation: EAX07919.1
BC042482 mRNA Translation: AAH42482.1
CCDSiCCDS55117.1 [Q96MP8-2]
CCDS5534.1 [Q96MP8-1]
RefSeqiNP_001161433.1, NM_001167961.2 [Q96MP8-2]
NP_694578.1, NM_153033.4 [Q96MP8-1]
UniGeneiHs.546627

3D structure databases

ProteinModelPortaliQ96MP8
SMRiQ96MP8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127564, 7 interactors
IntActiQ96MP8, 38 interactors

PTM databases

iPTMnetiQ96MP8
PhosphoSitePlusiQ96MP8

Polymorphism and mutation databases

BioMutaiKCTD7
DMDMi74732414

Proteomic databases

jPOSTiQ96MP8
MaxQBiQ96MP8
PeptideAtlasiQ96MP8
PRIDEiQ96MP8
ProteomicsDBi77385
77386 [Q96MP8-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
154881
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000443322; ENSP00000411624; ENSG00000243335 [Q96MP8-2]
ENST00000639828; ENSP00000492240; ENSG00000243335 [Q96MP8-1]
GeneIDi154881
KEGGihsa:154881
UCSCiuc003tvd.5 human [Q96MP8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
154881
DisGeNETi154881
EuPathDBiHostDB:ENSG00000243335.8

GeneCards: human genes, protein and diseases

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GeneCardsi
KCTD7
GeneReviewsiKCTD7
HGNCiHGNC:21957 KCTD7
MalaCardsiKCTD7
MIMi611725 gene
611726 phenotype
neXtProtiNX_Q96MP8
OpenTargetsiENSG00000243335
Orphaneti263516 Progressive myoclonic epilepsy type 3
PharmGKBiPA134884591

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000161327
HOGENOMiHOG000113201
HOVERGENiHBG052220
InParanoidiQ96MP8
KOiK21917
OMAiHREAQYY
OrthoDBi1377258at2759

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

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

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ChiTaRSi
KCTD7 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCTD7

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

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GenomeRNAii
154881

Protein Ontology

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PROi
PR:Q96MP8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000243335 Expressed in 209 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiQ96MP8 baseline and differential
GenevisibleiQ96MP8 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiKCTD7_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: Q96MP8
Secondary accession number(s): A4D2M4, Q8IVR0
<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: October 3, 2006
Last sequence update: December 1, 2001
Last modified: February 13, 2019
This is version 134 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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