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Entry version 127 (26 Feb 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Deubiquitinase OTUD6B

Gene

OTUD6B

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

Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629).3 Publications
Stimulates protein synthesis. Influences the expression of CCND1/cyclin D1 by promoting its translation and regulates MYC/c-Myc protein stability.1 Publication

Caution

Initially, no deubiquitinase activity could be detected when tested (PubMed:23827681). Other studies, show an obvious deubiquitinase activity (PubMed:21267069, PubMed:28343629, PubMed:27864334).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication EC:3.4.19.12

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei155By similarity1
Active sitei158Nucleophile1 Publication1
Active sitei277By similarity1

<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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
Biological processUbl conjugation pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:
Deubiquitinase OTUD6BCurated (EC:3.4.19.121 Publication)
Alternative name(s):
DUBA-5
OTU domain-containing protein 6BImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:OTUD6BImported
Synonyms:DUBA5
ORF Names:CGI-771 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24281 OTUD6B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612021 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6M0

<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

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features.
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_080403145 – 293Missing in IDDFSDA. 1 PublicationCorresponds to variant dbSNP:rs368313959Add BLAST149
Natural variantiVAR_080404186Y → C in IDDFSDA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064797103EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi158C → S: Abolishes the deubiquitinating enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51633

MalaCards human disease database

More...
MalaCardsi
OTUD6B
MIMi617452 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000155100

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

More...
Orphaneti
505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671219

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6M0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OTUD6B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74729149

<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_00000762791 – 293Deubiquitinase OTUD6BAdd BLAST293

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6M0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6M0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N6M0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N6M0

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

More...
PaxDbi
Q8N6M0

PeptideAtlas

More...
PeptideAtlasi
Q8N6M0

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6M0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72191 [Q8N6M0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6M0

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

More...
PhosphoSitePlusi
Q8N6M0

<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
ENSG00000155100 Expressed in corpus callosum and 198 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N6M0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6M0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024046
HPA024503
HPA024772

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the eukaryotic translation initiation factor 4F complex.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119647, 38 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6M0, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000285420

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6M0 protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini147 – 284OTUPROSITE-ProRule annotationAdd BLAST138

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni152 – 158Cys-loopBy similarity7
Regioni219 – 229Variable-loopBy similarityAdd BLAST11
Regioni267 – 277His-loopBy similarityAdd BLAST11

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2606 Eukaryota
COG5539 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012840

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034963_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6M0

KEGG Orthology (KO)

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KOi
K18342

Database of Orthologous Groups

More...
OrthoDBi
1541668at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6M0

TreeFam database of animal gene trees

More...
TreeFami
TF315010

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003323 OTU_dom
IPR038765 Papain-like_cys_pep_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02338 OTU, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54001 SSF54001, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50802 OTU, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N6M0-1) [UniParc]FASTAAdd to basket
Also known as: OTUD6B-11 Publication

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
MEAVLTEELD EEEQLLRRHR KEKKELQAKI QGMKNAVPKN DKKRRKQLTE
60 70 80 90 100
DVAKLEKEME QKHREELEQL KLTTKENKID SVAVNISNLV LENQPPRISK
110 120 130 140 150
AQKRREKKAA LEKEREERIA EAEIENLTGA RHMESEKLAQ ILAARQLEIK
160 170 180 190 200
QIPSDGHCMY KAIEDQLKEK DCALTVVALR SQTAEYMQSH VEDFLPFLTN
210 220 230 240 250
PNTGDMYTPE EFQKYCEDIV NTAAWGGQLE LRALSHILQT PIEIIQADSP
260 270 280 290
PIIVGEEYSK KPLILVYMRH AYGLGEHYNS VTRLVNIVTE NCS
Length:293
Mass (Da):33,813
Last modified:October 1, 2002 - 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:i468DB88E2637D869
GO
Isoform 2 (identifier: Q8N6M0-2) [UniParc]FASTAAdd to basket
Also known as: OTUD6B-21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: MEAVLTEELD...PRISKAQKRR → MISK

Show »
Length:192
Mass (Da):21,809
Checksum:iDB3F389CEE3BEB3E
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
A0A087X0W9A0A087X0W9_HUMAN
Deubiquitinase OTUD6B
OTUD6B hCG_32310
323Annotation 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>
A0A0C4DH76A0A0C4DH76_HUMAN
Deubiquitinase OTUD6B
OTUD6B
108Annotation 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 conflicti285 – 293VNIVTENCS → GKHSY in AAD34073 (PubMed:10810093).Curated9

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080403145 – 293Missing in IDDFSDA. 1 PublicationCorresponds to variant dbSNP:rs368313959Add BLAST149
Natural variantiVAR_080404186Y → C in IDDFSDA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064797103EnsemblClinVar.1
Natural variantiVAR_034144283R → Q1 PublicationCorresponds to variant dbSNP:rs3210518Ensembl.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_0553781 – 105MEAVL…AQKRR → MISK in isoform 2. 1 PublicationAdd BLAST105

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
AF151836 mRNA Translation: AAD34073.1
AK291646 mRNA Translation: BAF84335.1
AK293843 mRNA Translation: BAG57241.1
AC087439 Genomic DNA No translation available.
BC029760 mRNA Translation: AAH29760.1
AL137441 mRNA Translation: CAB70738.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6253.2 [Q8N6M0-1]
CCDS69513.1 [Q8N6M0-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46264

NCBI Reference Sequences

More...
RefSeqi
NP_001273674.1, NM_001286745.1 [Q8N6M0-2]
NP_057107.3, NM_016023.3 [Q8N6M0-1]
XP_011515431.2, XM_011517129.2 [Q8N6M0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000404789; ENSP00000384190; ENSG00000155100 [Q8N6M0-1]
ENST00000615618; ENSP00000481196; ENSG00000155100 [Q8N6M0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51633

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51633

UCSC genome browser

More...
UCSCi
uc011lgh.3 human [Q8N6M0-1]

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
AF151836 mRNA Translation: AAD34073.1
AK291646 mRNA Translation: BAF84335.1
AK293843 mRNA Translation: BAG57241.1
AC087439 Genomic DNA No translation available.
BC029760 mRNA Translation: AAH29760.1
AL137441 mRNA Translation: CAB70738.1
CCDSiCCDS6253.2 [Q8N6M0-1]
CCDS69513.1 [Q8N6M0-2]
PIRiT46264
RefSeqiNP_001273674.1, NM_001286745.1 [Q8N6M0-2]
NP_057107.3, NM_016023.3 [Q8N6M0-1]
XP_011515431.2, XM_011517129.2 [Q8N6M0-2]

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

BioGridi119647, 38 interactors
IntActiQ8N6M0, 17 interactors
STRINGi9606.ENSP00000285420

PTM databases

iPTMnetiQ8N6M0
PhosphoSitePlusiQ8N6M0

Polymorphism and mutation databases

BioMutaiOTUD6B
DMDMi74729149

Proteomic databases

EPDiQ8N6M0
jPOSTiQ8N6M0
MassIVEiQ8N6M0
MaxQBiQ8N6M0
PaxDbiQ8N6M0
PeptideAtlasiQ8N6M0
PRIDEiQ8N6M0
ProteomicsDBi72191 [Q8N6M0-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51633

Genome annotation databases

EnsembliENST00000404789; ENSP00000384190; ENSG00000155100 [Q8N6M0-1]
ENST00000615618; ENSP00000481196; ENSG00000155100 [Q8N6M0-2]
GeneIDi51633
KEGGihsa:51633
UCSCiuc011lgh.3 human [Q8N6M0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51633
DisGeNETi51633

GeneCards: human genes, protein and diseases

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GeneCardsi
OTUD6B
HGNCiHGNC:24281 OTUD6B
HPAiHPA024046
HPA024503
HPA024772
MalaCardsiOTUD6B
MIMi612021 gene
617452 phenotype
neXtProtiNX_Q8N6M0
OpenTargetsiENSG00000155100
Orphaneti505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
PharmGKBiPA142671219

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2606 Eukaryota
COG5539 LUCA
GeneTreeiENSGT00390000012840
HOGENOMiCLU_034963_0_1_1
InParanoidiQ8N6M0
KOiK18342
OrthoDBi1541668at2759
PhylomeDBiQ8N6M0
TreeFamiTF315010

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
OTUD6B

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

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GenomeRNAii
51633
PharosiQ8N6M0 Tbio

Protein Ontology

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PROi
PR:Q8N6M0
RNActiQ8N6M0 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000155100 Expressed in corpus callosum and 198 other tissues
ExpressionAtlasiQ8N6M0 baseline and differential
GenevisibleiQ8N6M0 HS

Family and domain databases

InterProiView protein in InterPro
IPR003323 OTU_dom
IPR038765 Papain-like_cys_pep_sf
PfamiView protein in Pfam
PF02338 OTU, 1 hit
SUPFAMiSSF54001 SSF54001, 1 hit
PROSITEiView protein in PROSITE
PS50802 OTU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOTU6B_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: Q8N6M0
Secondary accession number(s): A8K6I1
, B4DEY0, Q9NTA4, Q9Y387
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2002
Last modified: February 26, 2020
This is version 127 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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