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UniProtKB - O60941 (DTNB_HUMAN)

Entry version 164 (13 Feb 2019)
Sequence version 1 (01 Aug 1998)
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Protein

Dystrobrevin beta

Gene

DTNB

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri237 – 284ZZ-typePROSITE-ProRule annotationAdd BLAST48

<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

View the complete GO annotation on QuickGO ...

<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

LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		O60941

<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:
Dystrobrevin beta
Short name:
DTN-B
Alternative name(s):
Beta-dystrobrevin
<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:DTNB
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000138101.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:3058 DTNB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602415 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60941

<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

Keywords - Cellular componenti

Cytoplasm

<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		1838

Open Targets

More...OpenTargetsi		ENSG00000138101

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27511

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DTNB

<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_00000868781 – 627Dystrobrevin betaAdd BLAST627

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-acetylmethionine1 Publication1
Modified residuei394PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60941

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60941

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60941

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

More...PaxDbi		O60941

PeptideAtlas

More...PeptideAtlasi		O60941

PRoteomics IDEntifications database

More...PRIDEi		O60941

ProteomicsDB human proteome resource

More...ProteomicsDBi		49683
49684 [O60941-2]
49685 [O60941-3]
49686 [O60941-4]
49687 [O60941-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60941

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

More...PhosphoSitePlusi		O60941

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in brain, kidney and pancreas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138101 Expressed in 142 organ(s), highest expression level in C1 segment of cervical spinal cord

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60941 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60941 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA061357

<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 dystrophin short form DP71 and syntrophins SNTG1 and SNTG2. Binds dystrobrevin binding protein 1 (By similarity).By similarity

<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)

More...BioGridi		108171, 53 interactors

Protein interaction database and analysis system

More...IntActi		O60941, 68 interactors

Molecular INTeraction database

More...MINTi		O60941

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384084

<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

More...ProteinModelPortali		O60941

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

More...SMRi		O60941

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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

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>Regioni399 – 448Syntrophin-binding regionAdd BLAST50

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili428 – 529Sequence analysisAdd BLAST102

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The coiled coil domain may mediate the interaction with dystrophin.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dystrophin family. Dystrobrevin subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri237 – 284ZZ-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4301 Eukaryota
ENOG410XP3C LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000164272

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230684

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG005539

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60941

Identification of Orthologs from Complete Genome Data

More...OMAi		XEEGAEE

Database of Orthologous Groups

More...OrthoDBi		699158at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60941

TreeFam database of animal gene trees

More...TreeFami		TF343849

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017432 Distrobrevin
IPR011992 EF-hand-dom_pair
IPR015153 EF-hand_dom_typ1
IPR015154 EF-hand_dom_typ2
IPR000433 Znf_ZZ

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09068 EF-hand_2, 1 hit
PF09069 EF-hand_3, 1 hit
PF00569 ZZ, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038204 Distrobrevin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00291 ZnF_ZZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473 SSF47473, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 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 (7+)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 7 <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
Note: Additional isoforms seem to exist.

This entry has 7 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60941-1) [UniParc]FASTAAdd to basket
Also known as: DTN-B1

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
MIEESGNKRK TMAEKRQLFI EMRAQNFDVI RLSTYRTACK LRFVQKRCNL 
        60         70         80         90        100
HLVDIWNMIE AFRDNGLNTL DHTTEISVSR LETVISSIYY QLNKRLPSTH 
       110        120        130        140        150
QISVEQSISL LLNFMIAAYD SEGRGKLTVF SVKAMLATMC GGKMLDKLRY 
       160        170        180        190        200
VFSQMSDSNG LMIFSKFDQF LKEVLKLPTA VFEGPSFGYT EHSVRTCFPQ 
       210        220        230        240        250
QRKIMLNMFL DTMMADPPPQ CLVWLPLMHR LAHVENVFHP VECSYCRCES 
       260        270        280        290        300
MMGFRYRCQQ CHNYQLCQNC FWRGHAGGPH SNQHQMKEHS SWKSPAKKLS 
       310        320        330        340        350
HAISKSLGCV PTREPPHPVF PEQPEKPLDL AHIVPPRPLT NMNDTMVSHM 
       360        370        380        390        400
SSGVPTPTKR LQYSQDIPSH LADEHALIAS YVARLQHCAR VLDSPSRLDE 
       410        420        430        440        450
EHRLIARYAA RLAAEAGNVT RPPTDLSFNF DANKQQRQLI AELENKNREI 
       460        470        480        490        500
LQEIQRLRLE HEQASQPTPE KAQQNPTLLA ELRLLRQRKD ELEQRMSALQ 
       510        520        530        540        550
ESRRELMVQL EELMKLLKEE EQKQAAQATG SPHTSPTHGG GRPMPMPVRS 
       560        570        580        590        600
TSAGSTPTHC PQDSLSGVGG DVQEAFAQGT RRNLRNDLLV AADSITNTMS 
       610        620 
SLVKELHSAE EGAEEEEEKM QNGKDRG
Length:627
Mass (Da):71,356
Last modified:August 1, 1998 - 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:i6927EC0BD86D375C
GO
Isoform 2 (identifier: O60941-2) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-associated protein A0

The sequence of this isoform differs from the canonical sequence as follows:
     360-390: RLQYSQDIPSHLADEHALIASYVARLQHCAR → S
     579-608: Missing.

Show »
Length:567
Mass (Da):64,603
Checksum:iFCE6EA264E0288AC
GO
Isoform 3 (identifier: O60941-3) [UniParc]FASTAAdd to basket
Also known as: DTN-B2

The sequence of this isoform differs from the canonical sequence as follows:
     526-558: AQATGSPHTSPTHGGGRPMPMPVRSTSAGSTPT → VSELRNFPPDSRSFARSSFPHINVSPLLPAHHL
     559-627: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:558
Mass (Da):64,424
Checksum:i503AE1161728764C
GO
Isoform 4 (identifier: O60941-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     579-608: Missing.

Show »
Length:597
Mass (Da):68,061
Checksum:iD6B8F6824D9ADA5E
GO
Isoform 5 (identifier: O60941-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     360-390: RLQYSQDIPSHLADEHALIASYVARLQHCAR → S
     519-525: Missing.
     579-608: Missing.

Show »
Length:560
Mass (Da):63,760
Checksum:i7E690DC33BBC1CE2
GO
Isoform 6 (identifier: O60941-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.
     519-525: Missing.
     609-626: Missing.

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):61,538
Checksum:iE80E4844A6FE8689
GO
Isoform 7 (identifier: O60941-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     609-626: Missing.

Note: No experimental confirmation available.
Show »
Length:609
Mass (Da):69,294
Checksum:iF1FE02EF941A8F9D
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
E9PEY4E9PEY4_HUMAN
Dystrobrevin
DTNB
590Annotation 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>
E7EVB6E7EVB6_HUMAN
Dystrobrevin
DTNB
620Annotation 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>
F8WD22F8WD22_HUMAN
Dystrobrevin beta
DTNB
63Annotation 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>
F8W9U0F8W9U0_HUMAN
Dystrobrevin beta
DTNB
188Annotation 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>
E9PE76E9PE76_HUMAN
Dystrobrevin beta
DTNB
132Annotation 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>
E7ES64E7ES64_HUMAN
Dystrobrevin beta
DTNB
149Annotation 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 conflicti102I → T in BAH13469 (PubMed:14702039).Curated1
Sequence conflicti172K → T in BAH13469 (PubMed:14702039).Curated1

Natural variant

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_06914697P → H1 PublicationCorresponds to variant dbSNP:rs17854576Ensembl.1
Natural variantiVAR_069147116I → T1 PublicationCorresponds to variant dbSNP:rs17854577Ensembl.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_0455341 – 57Missing in isoform 6. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_004223360 – 390RLQYS…QHCAR → S in isoform 2 and isoform 5. 3 PublicationsAdd BLAST31
Alternative sequenceiVSP_043445519 – 525Missing in isoform 5 and isoform 6. 3 Publications7
Alternative sequenceiVSP_004224526 – 558AQATG…GSTPT → VSELRNFPPDSRSFARSSFP HINVSPLLPAHHL in isoform 3. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_004225559 – 627Missing in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_004226579 – 608Missing in isoform 2, isoform 4 and isoform 5. 4 PublicationsAdd BLAST30
Alternative sequenceiVSP_045535609 – 626Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST18

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
AF022728 mRNA Translation: AAC05082.1
Y15722 mRNA Translation: CAA75737.1
Y12712 mRNA Translation: CAA73249.1
Y15718 mRNA Translation: CAA75733.1
Y15719 mRNA Translation: CAA75734.1
Y15720 mRNA Translation: CAA75735.1
Y15721 mRNA Translation: CAA75736.1
BT009805 mRNA Translation: AAP88807.1
AK301386 mRNA Translation: BAH13469.1
AC010150 Genomic DNA No translation available.
AC012074 Genomic DNA No translation available.
AC019144 Genomic DNA No translation available.
AC104699 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00719.1
CH471053 Genomic DNA Translation: EAX00722.1
BC016655 mRNA Translation: AAH16655.1
BC049366 mRNA Translation: AAH49366.1
AF070567 mRNA Translation: AAC28643.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46233.1 [O60941-5]
CCDS46234.1 [O60941-2]
CCDS46235.1 [O60941-4]
CCDS46236.1 [O60941-7]
CCDS46237.1 [O60941-1]
CCDS58702.1 [O60941-6]

NCBI Reference Sequences

More...RefSeqi		NP_001243232.1, NM_001256303.1
NP_001243237.1, NM_001256308.2 [O60941-6]
NP_001307861.1, NM_001320932.1
NP_001307862.1, NM_001320933.1
NP_001307863.1, NM_001320934.1
NP_001307864.1, NM_001320935.1
NP_001307865.1, NM_001320936.1
NP_068707.1, NM_021907.4 [O60941-1]
NP_149159.2, NM_033147.3 [O60941-4]
NP_149160.1, NM_033148.3 [O60941-2]
NP_899204.1, NM_183360.2 [O60941-7]
NP_899205.1, NM_183361.2 [O60941-5]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.307720

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000404103; ENSP00000385482; ENSG00000138101 [O60941-4]
ENST00000405222; ENSP00000384787; ENSG00000138101 [O60941-5]
ENST00000406818; ENSP00000384084; ENSG00000138101 [O60941-1]
ENST00000407038; ENSP00000384767; ENSG00000138101 [O60941-2]
ENST00000407661; ENSP00000385193; ENSG00000138101 [O60941-7]
ENST00000496972; ENSP00000444463; ENSG00000138101 [O60941-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1838

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1838

UCSC genome browser

More...UCSCi		uc002rgh.5 human [O60941-1]

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
AF022728 mRNA Translation: AAC05082.1
Y15722 mRNA Translation: CAA75737.1
Y12712 mRNA Translation: CAA73249.1
Y15718 mRNA Translation: CAA75733.1
Y15719 mRNA Translation: CAA75734.1
Y15720 mRNA Translation: CAA75735.1
Y15721 mRNA Translation: CAA75736.1
BT009805 mRNA Translation: AAP88807.1
AK301386 mRNA Translation: BAH13469.1
AC010150 Genomic DNA No translation available.
AC012074 Genomic DNA No translation available.
AC019144 Genomic DNA No translation available.
AC104699 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00719.1
CH471053 Genomic DNA Translation: EAX00722.1
BC016655 mRNA Translation: AAH16655.1
BC049366 mRNA Translation: AAH49366.1
AF070567 mRNA Translation: AAC28643.1
CCDSiCCDS46233.1 [O60941-5]
CCDS46234.1 [O60941-2]
CCDS46235.1 [O60941-4]
CCDS46236.1 [O60941-7]
CCDS46237.1 [O60941-1]
CCDS58702.1 [O60941-6]
RefSeqiNP_001243232.1, NM_001256303.1
NP_001243237.1, NM_001256308.2 [O60941-6]
NP_001307861.1, NM_001320932.1
NP_001307862.1, NM_001320933.1
NP_001307863.1, NM_001320934.1
NP_001307864.1, NM_001320935.1
NP_001307865.1, NM_001320936.1
NP_068707.1, NM_021907.4 [O60941-1]
NP_149159.2, NM_033147.3 [O60941-4]
NP_149160.1, NM_033148.3 [O60941-2]
NP_899204.1, NM_183360.2 [O60941-7]
NP_899205.1, NM_183361.2 [O60941-5]
UniGeneiHs.307720

3D structure databases

ProteinModelPortaliO60941
SMRiO60941
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108171, 53 interactors
IntActiO60941, 68 interactors
MINTiO60941
STRINGi9606.ENSP00000384084

PTM databases

iPTMnetiO60941
PhosphoSitePlusiO60941

Polymorphism and mutation databases

BioMutaiDTNB

Proteomic databases

EPDiO60941
jPOSTiO60941
MaxQBiO60941
PaxDbiO60941
PeptideAtlasiO60941
PRIDEiO60941
ProteomicsDBi49683
49684 [O60941-2]
49685 [O60941-3]
49686 [O60941-4]
49687 [O60941-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1838
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000404103; ENSP00000385482; ENSG00000138101 [O60941-4]
ENST00000405222; ENSP00000384787; ENSG00000138101 [O60941-5]
ENST00000406818; ENSP00000384084; ENSG00000138101 [O60941-1]
ENST00000407038; ENSP00000384767; ENSG00000138101 [O60941-2]
ENST00000407661; ENSP00000385193; ENSG00000138101 [O60941-7]
ENST00000496972; ENSP00000444463; ENSG00000138101 [O60941-6]
GeneIDi1838
KEGGihsa:1838
UCSCiuc002rgh.5 human [O60941-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1838
DisGeNETi1838
EuPathDBiHostDB:ENSG00000138101.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		DTNB
HGNCiHGNC:3058 DTNB
HPAiHPA061357
MIMi602415 gene
neXtProtiNX_O60941
OpenTargetsiENSG00000138101
PharmGKBiPA27511

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4301 Eukaryota
ENOG410XP3C LUCA
GeneTreeiENSGT00940000164272
HOGENOMiHOG000230684
HOVERGENiHBG005539
InParanoidiO60941
OMAiXEEGAEE
OrthoDBi699158at2759
PhylomeDBiO60941
TreeFamiTF343849

Enzyme and pathway databases

SIGNORiO60941

Miscellaneous databases

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

More...ChiTaRSi		DTNB human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DTNB

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

More...GenomeRNAii		1838

Protein Ontology

More...PROi		PR:O60941

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138101 Expressed in 142 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiO60941 baseline and differential
GenevisibleiO60941 HS

Family and domain databases

InterProiView protein in InterPro
IPR017432 Distrobrevin
IPR011992 EF-hand-dom_pair
IPR015153 EF-hand_dom_typ1
IPR015154 EF-hand_dom_typ2
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF09068 EF-hand_2, 1 hit
PF09069 EF-hand_3, 1 hit
PF00569 ZZ, 1 hit
PIRSFiPIRSF038204 Distrobrevin, 1 hit
SMARTiView protein in SMART
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiDTNB_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: O60941
Secondary accession number(s): B7Z733
, F5GZG4, G5E9F6, O43782, O60881, O75538, Q86VR4, Q96AW0, Q9UE14, Q9UE15, Q9UE16
<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: April 27, 2001
Last sequence update: August 1, 1998
Last modified: February 13, 2019
This is version 164 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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