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UniProtKB - Q9Y4J8 (DTNA_HUMAN)

Entry version 187 (18 Sep 2019)
Sequence version 2 (05 May 2009)
Previous versions | rss
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Protein

Dystrobrevin alpha

Gene

DTNA

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 formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

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		Q9Y4J8

<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 alpha
Short name:
DTN-A
Alternative name(s):
Alpha-dystrobrevin
Dystrophin-related protein 3
<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:DTNA
Synonyms:DRP3
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3057 DTNA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601239 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y4J8

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Synapse

<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

Left ventricular non-compaction 1 (LVNC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.
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_026744121P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1837

MalaCards human disease database

More...MalaCardsi		DTNA
MIMi604169 phenotype

Open Targets

More...OpenTargetsi		ENSG00000134769

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

More...Orphaneti		54260 Left ventricular noncompaction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27510

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DTNA

Domain mapping of disease mutations (DMDM)

More...DMDMi		229462840

<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_00000800361 – 743Dystrobrevin alphaAdd BLAST743

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 residuei662PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y4J8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y4J8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y4J8

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

More...PaxDbi		Q9Y4J8

PeptideAtlas

More...PeptideAtlasi		Q9Y4J8

PRoteomics IDEntifications database

More...PRIDEi		Q9Y4J8

ProteomicsDB human proteome resource

More...ProteomicsDBi		4321
86213 [Q9Y4J8-1]
86214 [Q9Y4J8-10]
86215 [Q9Y4J8-2]
86216 [Q9Y4J8-3]
86217 [Q9Y4J8-4]
86218 [Q9Y4J8-5]
86219 [Q9Y4J8-6]
86220 [Q9Y4J8-7]
86221 [Q9Y4J8-8]
86222 [Q9Y4J8-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y4J8

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

More...PhosphoSitePlusi		Q9Y4J8

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y4J8

<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, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134769 Expressed in 210 organ(s), highest expression level in medial globus pallidus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y4J8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y4J8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB015196
HPA071177

<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, utrophin and the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Isoform 7 and isoform 8 do not interact with dystrophin. Binds dystrobrevin binding protein 1.

Interacts with MAGEE1 (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

WithEntry#Exp.IntActNotes
CTNNAL1Q9UBT75EBI-949471,EBI-514206

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108170, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y4J8

Protein interaction database and analysis system

More...IntActi		Q9Y4J8, 28 interactors

Molecular INTeraction database

More...MINTi		Q9Y4J8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000470152

<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

Secondary structure

1743
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9Y4J8

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y4J8

<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>Regioni1 – 288Interaction with MAGEE1By similarityAdd BLAST288
Regioni400 – 450Syntrophin-binding regionAdd BLAST51

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 coili461 – 556Sequence analysisAdd BLAST96

<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 mediates the interaction with dystrophin and utrophin.By similarity

<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		ENSGT00940000153897

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230684

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y4J8

Identification of Orthologs from Complete Genome Data

More...OMAi		ACQVRSF

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y4J8

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>. 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 (16+)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 16 <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 16 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y4J8-1) [UniParc]FASTAAdd to basket
Also known as: DTN-1

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
MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL 
        60         70         80         90        100
HLVDIWNVIE ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH 
       110        120        130        140        150
QIHVEQSISL LLNFLLAAFD PEGHGKISVF AVKMALATLC GGKIMDKLRY 
       160        170        180        190        200
IFSMISDSSG VMVYGRYDQF LREVLKLPTA VFEGPSFGYT EQSARSCFSQ 
       210        220        230        240        250
QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP VECSYCHSES 
       260        270        280        290        300
MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 
       310        320        330        340        350
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF 
       360        370        380        390        400
SHSVPSSGSP FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD 
       410        420        430        440        450
RLADEHVLIG LYVNMLRNNP SCMLESSNRL DEEHRLIARY AARLAAESSS 
       460        470        480        490        500
SQPPQQRSAP DISFTIDANK QQRQLIAELE NKNREILQEI QRLRLEHEQA 
       510        520        530        540        550
SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR ELMVQLEGLM 
       560        570        580        590        600
KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD 
       610        620        630        640        650
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE 
       660        670        680        690        700
FARTQFEDLV PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD 
       710        720        730        740 
PYVQPEDENY ENDSVRQLEN ELQMEEYLKQ KLQDEAYQVS LQG
Length:743
Mass (Da):83,901
Last modified:May 5, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCFD77DAA57D050EC
GO
Isoform 2 (identifier: Q9Y4J8-2) [UniParc]FASTAAdd to basket
Also known as: Dystrobrevin-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     366-422: Missing.

Show »
Length:686
Mass (Da):77,653
Checksum:iA0AC358D5A7E8D61
GO
Isoform 3 (identifier: Q9Y4J8-3) [UniParc]FASTAAdd to basket
Also known as: DTN-2

The sequence of this isoform differs from the canonical sequence as follows:
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Show »
Length:570
Mass (Da):65,123
Checksum:i319CDD0D278842DA
GO
Isoform 4 (identifier: Q9Y4J8-4) [UniParc]FASTAAdd to basket
Also known as: Dystrobrevin-beta

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Show »
Length:567
Mass (Da):64,720
Checksum:iD18F849D686A0BF7
GO
Isoform 5 (identifier: Q9Y4J8-5) [UniParc]FASTAAdd to basket
Also known as: Dystrobrevin-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     366-422: Missing.
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Show »
Length:513
Mass (Da):58,874
Checksum:iBB7A7C93AC7FD90E
GO
Isoform 6 (identifier: Q9Y4J8-6) [UniParc]FASTAAdd to basket
Also known as: Dystrobrevin-epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     335-337: Missing.
     392-422: Missing.

Show »
Length:391
Mass (Da):43,621
Checksum:i953EACB49B22CA8F
GO
Isoform 7 (identifier: Q9Y4J8-7) [UniParc]FASTAAdd to basket
Also known as: DTN-3, Alpha-dystrobrevin-3, Dystrobrevin-delta

The sequence of this isoform differs from the canonical sequence as follows:
     367-374: PPKDSEVE → DGAFGGCV
     375-743: Missing.

Show »
Length:374
Mass (Da):42,394
Checksum:i34DD5316D76B9F77
GO
Isoform 8 (identifier: Q9Y4J8-8) [UniParc]FASTAAdd to basket
Also known as: Dystrobrevin-zeta

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     335-337: Missing.
     366-422: Missing.
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Show »
Length:192
Mass (Da):22,108
Checksum:iB9330D18C104D7CB
GO
Isoform 9 (identifier: Q9Y4J8-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     367-374: PPKDSEVE → DGAFGGCV
     375-743: Missing.

Show »
Length:371
Mass (Da):41,991
Checksum:i7A36F9D93508CF5F
GO
Isoform 10 (identifier: Q9Y4J8-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     335-337: Missing.
     365-422: SSPPKDSEVE...VNMLRNNPSC → RLPEGISASSPVAEEHSLIKLYVNQLDHGAR

Show »
Length:395
Mass (Da):44,169
Checksum:iE645282593EAF0C5
GO
Isoform 11 (identifier: Q9Y4J8-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     335-337: Missing.
     364-365: RS → RRLPEGISASSPVAEEHSLIKLYVNQLDHGAR

Show »
Length:452
Mass (Da):50,417
Checksum:i575B1197D5930A22
GO
Isoform 12 (identifier: Q9Y4J8-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     202-451: Missing.
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Note: No experimental confirmation available.
Show »
Length:320
Mass (Da):36,993
Checksum:i42D8B729CB4CDD42
GO
Isoform 13 (identifier: Q9Y4J8-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     366-422: Missing.

Note: No experimental confirmation available.
Show »
Length:683
Mass (Da):77,250
Checksum:i53605C27261EF5A9
GO
Isoform 14 (identifier: Q9Y4J8-14) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     366-422: Missing.
     554-554: K → KEEELKQG

Note: Gene prediction based on EST data.
Show »
Length:690
Mass (Da):78,064
Checksum:iBCF9F46A65915703
GO
Isoform 15 (identifier: Q9Y4J8-15) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     366-422: Missing.
     739-743: VSLQG → LHVSTETRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF

Note: Gene prediction based on EST data.
Show »
Length:724
Mass (Da):82,211
Checksum:iBD26C22B17561B4C
GO
Isoform 16 (identifier: Q9Y4J8-16) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     366-422: Missing.
     555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
     571-743: Missing.

Note: No experimental confirmation available.
Show »
Length:510
Mass (Da):58,472
Checksum:i0B47B4F9EACCC42F
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0C4M0R0C4_HUMAN
Dystrobrevin alpha
DTNA
169Annotation 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>
M0QZ28M0QZ28_HUMAN
Dystrobrevin alpha
DTNA
365Annotation 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>
K7ERH7K7ERH7_HUMAN
Dystrobrevin alpha
DTNA
109Annotation 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>
M0R021M0R021_HUMAN
Dystrobrevin alpha
DTNA
162Annotation 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>
K7ER73K7ER73_HUMAN
Dystrobrevin alpha
DTNA
104Annotation 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>
K7EJ84K7EJ84_HUMAN
Dystrobrevin alpha
DTNA
119Annotation 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>
K7ERZ2K7ERZ2_HUMAN
Dystrobrevin alpha
DTNA
133Annotation 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>
K7ESB2K7ESB2_HUMAN
Dystrobrevin alpha
DTNA
101Annotation 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>
K7EMN1K7EMN1_HUMAN
Dystrobrevin alpha
DTNA
33Annotation 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>
K7ENJ7K7ENJ7_HUMAN
Dystrobrevin alpha
DTNA
43Annotation 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>
There is more potential isoformShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD92339 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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 conflicti45Q → H in AAB58541 (PubMed:10735273).Curated1
Sequence conflicti45Q → H in AAB58542 (PubMed:10735273).Curated1
Sequence conflicti45Q → H in AAB58543 (PubMed:10735273).Curated1
Sequence conflicti64E → K in CAA08769 (PubMed:9701558).Curated1
Sequence conflicti182F → L in AAC50426 (PubMed:8845841).Curated1
Sequence conflicti182F → L in AAB58541 (PubMed:10735273).Curated1
Sequence conflicti182F → L in AAB58542 (PubMed:10735273).Curated1
Sequence conflicti182F → L in AAB58543 (PubMed:10735273).Curated1
Sequence conflicti314E → K in AAC50430 (PubMed:8845841).Curated1
Sequence conflicti558 – 561AGSP → SGTH in AAC50429 (PubMed:8845841).Curated4
Sequence conflicti558 – 559AG → GV in AAC50431 (PubMed:8845841).Curated2
Sequence conflicti565P → R in AAC50429 (PubMed:8845841).Curated1
Sequence conflicti568T → S in AAC50429 (PubMed:8845841).Curated1
Sequence conflicti689T → S in AAC50429 (PubMed:8845841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026744121P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar.1
Natural variantiVAR_055320180A → E2 PublicationsCorresponds to variant dbSNP:rs1048081Ensembl.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_0042061 – 318Missing in isoform 6, isoform 8, isoform 10 and isoform 11. 2 PublicationsAdd BLAST318
Alternative sequenceiVSP_047532202 – 451Missing in isoform 12. 1 PublicationAdd BLAST250
Alternative sequenceiVSP_004207335 – 337Missing in isoform 4, isoform 6, isoform 8, isoform 9, isoform 10, isoform 11, isoform 13, isoform 14, isoform 15 and isoform 16. 5 Publications3
Alternative sequenceiVSP_045444364 – 365RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11. 1 Publication2
Alternative sequenceiVSP_043824365 – 422SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_004208366 – 422Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16. 3 PublicationsAdd BLAST57
Alternative sequenceiVSP_004209367 – 374PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9. 4 Publications8
Alternative sequenceiVSP_004210375 – 743Missing in isoform 7 and isoform 9. 4 PublicationsAdd BLAST369
Alternative sequenceiVSP_004211392 – 422Missing in isoform 6. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_054816554K → KEEELKQG in isoform 14. Curated1
Alternative sequenceiVSP_004212555 – 570TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_004213571 – 743Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST173
Alternative sequenceiVSP_054817739 – 743VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15. Curated5

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
U46744 mRNA Translation: AAC50429.1
U46745 mRNA Translation: AAC50430.1
U26744 mRNA Translation: AAC50426.1
U46746 mRNA Translation: AAC50431.1
U26742 mRNA Translation: AAC50424.1
U26743 mRNA Translation: AAC50425.1
AK294746 mRNA Translation: BAG57887.1
AK295732 mRNA Translation: BAG58572.1
AB209102 mRNA Translation: BAD92339.1 Different initiation.
AK291156 mRNA Translation: BAF83845.1
AK295789 mRNA Translation: BAG58610.1
U84551
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545, U84546, U84548, U84549, U84550 Genomic DNA Translation: AAB58543.1
U84547
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545 Genomic DNA Translation: AAB58542.1
U84540
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538 Genomic DNA Translation: AAB58541.1
AJ009668 mRNA Translation: CAA08769.1
BT006937 mRNA Translation: AAP35583.1
AC068506 Genomic DNA No translation available.
AC022601 Genomic DNA No translation available.
AC103768 Genomic DNA No translation available.
AC013290 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01319.1
CH471088 Genomic DNA Translation: EAX01325.1
CH471088 Genomic DNA Translation: EAX01328.1
BC005300 mRNA Translation: AAH05300.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11908.1 [Q9Y4J8-4]
CCDS11909.1 [Q9Y4J8-6]
CCDS42426.1 [Q9Y4J8-7]
CCDS45848.1 [Q9Y4J8-2]
CCDS56060.1 [Q9Y4J8-9]
CCDS56061.1 [Q9Y4J8-14]
CCDS56062.1 [Q9Y4J8-11]
CCDS56063.1 [Q9Y4J8-10]
CCDS59309.1 [Q9Y4J8-5]
CCDS59310.1 [Q9Y4J8-16]
CCDS59311.1 [Q9Y4J8-13]
CCDS59312.1 [Q9Y4J8-15]
CCDS59313.1 [Q9Y4J8-12]
CCDS59314.1 [Q9Y4J8-8]

NCBI Reference Sequences

More...RefSeqi		NP_001121647.1, NM_001128175.1 [Q9Y4J8-9]
NP_001185867.1, NM_001198938.1 [Q9Y4J8-15]
NP_001185868.1, NM_001198939.1 [Q9Y4J8-14]
NP_001185869.1, NM_001198940.1 [Q9Y4J8-13]
NP_001185870.1, NM_001198941.1 [Q9Y4J8-16]
NP_001185871.1, NM_001198942.1 [Q9Y4J8-11]
NP_001185873.1, NM_001198944.1 [Q9Y4J8-10]
NP_001185874.1, NM_001198945.1 [Q9Y4J8-12]
NP_001381.2, NM_001390.4 [Q9Y4J8-1]
NP_001382.2, NM_001391.5 [Q9Y4J8-3]
NP_001383.2, NM_001392.4 [Q9Y4J8-7]
NP_116757.2, NM_032975.3 [Q9Y4J8-2]
NP_116760.2, NM_032978.6 [Q9Y4J8-4]
NP_116761.2, NM_032979.4 [Q9Y4J8-5]
NP_116762.2, NM_032980.3 [Q9Y4J8-6]
NP_116763.1, NM_032981.4 [Q9Y4J8-8]
XP_011524155.1, XM_011525853.2 [Q9Y4J8-16]
XP_016881066.1, XM_017025577.1 [Q9Y4J8-15]
XP_016881073.1, XM_017025584.1 [Q9Y4J8-2]
XP_016881076.1, XM_017025587.1 [Q9Y4J8-13]
XP_016881077.1, XM_017025588.1 [Q9Y4J8-13]
XP_016881078.1, XM_017025589.1 [Q9Y4J8-13]
XP_016881079.1, XM_017025590.1 [Q9Y4J8-13]
XP_016881080.1, XM_017025591.1 [Q9Y4J8-13]
XP_016881089.1, XM_017025600.1 [Q9Y4J8-7]
XP_016881090.1, XM_017025601.1 [Q9Y4J8-9]
XP_016881091.1, XM_017025602.1 [Q9Y4J8-9]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000269192; ENSP00000269192; ENSG00000134769 [Q9Y4J8-11]
ENST00000283365; ENSP00000283365; ENSG00000134769 [Q9Y4J8-2]
ENST00000315456; ENSP00000322519; ENSG00000134769 [Q9Y4J8-7]
ENST00000348997; ENSP00000336682; ENSG00000134769 [Q9Y4J8-4]
ENST00000399113; ENSP00000382064; ENSG00000134769 [Q9Y4J8-1]
ENST00000399121; ENSP00000382072; ENSG00000134769 [Q9Y4J8-14]
ENST00000444659; ENSP00000405819; ENSG00000134769 [Q9Y4J8-1]
ENST00000554864; ENSP00000451516; ENSG00000134769 [Q9Y4J8-9]
ENST00000556414; ENSP00000452255; ENSG00000134769 [Q9Y4J8-10]
ENST00000591182; ENSP00000467720; ENSG00000134769 [Q9Y4J8-6]
ENST00000595022; ENSP00000473078; ENSG00000134769 [Q9Y4J8-13]
ENST00000596745; ENSP00000469121; ENSG00000134769 [Q9Y4J8-12]
ENST00000597599; ENSP00000473119; ENSG00000134769 [Q9Y4J8-16]
ENST00000597674; ENSP00000471783; ENSG00000134769 [Q9Y4J8-8]
ENST00000598142; ENSP00000470716; ENSG00000134769 [Q9Y4J8-2]
ENST00000598334; ENSP00000470152; ENSG00000134769 [Q9Y4J8-15]
ENST00000598774; ENSP00000472031; ENSG00000134769 [Q9Y4J8-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1837

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1837

UCSC genome browser

More...UCSCi		uc002kxu.3 human [Q9Y4J8-1]

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
U46744 mRNA Translation: AAC50429.1
U46745 mRNA Translation: AAC50430.1
U26744 mRNA Translation: AAC50426.1
U46746 mRNA Translation: AAC50431.1
U26742 mRNA Translation: AAC50424.1
U26743 mRNA Translation: AAC50425.1
AK294746 mRNA Translation: BAG57887.1
AK295732 mRNA Translation: BAG58572.1
AB209102 mRNA Translation: BAD92339.1 Different initiation.
AK291156 mRNA Translation: BAF83845.1
AK295789 mRNA Translation: BAG58610.1
U84551
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545, U84546, U84548, U84549, U84550 Genomic DNA Translation: AAB58543.1
U84547
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545 Genomic DNA Translation: AAB58542.1
U84540
, U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538 Genomic DNA Translation: AAB58541.1
AJ009668 mRNA Translation: CAA08769.1
BT006937 mRNA Translation: AAP35583.1
AC068506 Genomic DNA No translation available.
AC022601 Genomic DNA No translation available.
AC103768 Genomic DNA No translation available.
AC013290 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01319.1
CH471088 Genomic DNA Translation: EAX01325.1
CH471088 Genomic DNA Translation: EAX01328.1
BC005300 mRNA Translation: AAH05300.1
CCDSiCCDS11908.1 [Q9Y4J8-4]
CCDS11909.1 [Q9Y4J8-6]
CCDS42426.1 [Q9Y4J8-7]
CCDS45848.1 [Q9Y4J8-2]
CCDS56060.1 [Q9Y4J8-9]
CCDS56061.1 [Q9Y4J8-14]
CCDS56062.1 [Q9Y4J8-11]
CCDS56063.1 [Q9Y4J8-10]
CCDS59309.1 [Q9Y4J8-5]
CCDS59310.1 [Q9Y4J8-16]
CCDS59311.1 [Q9Y4J8-13]
CCDS59312.1 [Q9Y4J8-15]
CCDS59313.1 [Q9Y4J8-12]
CCDS59314.1 [Q9Y4J8-8]
RefSeqiNP_001121647.1, NM_001128175.1 [Q9Y4J8-9]
NP_001185867.1, NM_001198938.1 [Q9Y4J8-15]
NP_001185868.1, NM_001198939.1 [Q9Y4J8-14]
NP_001185869.1, NM_001198940.1 [Q9Y4J8-13]
NP_001185870.1, NM_001198941.1 [Q9Y4J8-16]
NP_001185871.1, NM_001198942.1 [Q9Y4J8-11]
NP_001185873.1, NM_001198944.1 [Q9Y4J8-10]
NP_001185874.1, NM_001198945.1 [Q9Y4J8-12]
NP_001381.2, NM_001390.4 [Q9Y4J8-1]
NP_001382.2, NM_001391.5 [Q9Y4J8-3]
NP_001383.2, NM_001392.4 [Q9Y4J8-7]
NP_116757.2, NM_032975.3 [Q9Y4J8-2]
NP_116760.2, NM_032978.6 [Q9Y4J8-4]
NP_116761.2, NM_032979.4 [Q9Y4J8-5]
NP_116762.2, NM_032980.3 [Q9Y4J8-6]
NP_116763.1, NM_032981.4 [Q9Y4J8-8]
XP_011524155.1, XM_011525853.2 [Q9Y4J8-16]
XP_016881066.1, XM_017025577.1 [Q9Y4J8-15]
XP_016881073.1, XM_017025584.1 [Q9Y4J8-2]
XP_016881076.1, XM_017025587.1 [Q9Y4J8-13]
XP_016881077.1, XM_017025588.1 [Q9Y4J8-13]
XP_016881078.1, XM_017025589.1 [Q9Y4J8-13]
XP_016881079.1, XM_017025590.1 [Q9Y4J8-13]
XP_016881080.1, XM_017025591.1 [Q9Y4J8-13]
XP_016881089.1, XM_017025600.1 [Q9Y4J8-7]
XP_016881090.1, XM_017025601.1 [Q9Y4J8-9]
XP_016881091.1, XM_017025602.1 [Q9Y4J8-9]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5RNMR-A237-292[»]
SMRiQ9Y4J8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108170, 39 interactors
CORUMiQ9Y4J8
IntActiQ9Y4J8, 28 interactors
MINTiQ9Y4J8
STRINGi9606.ENSP00000470152

PTM databases

iPTMnetiQ9Y4J8
PhosphoSitePlusiQ9Y4J8
SwissPalmiQ9Y4J8

Polymorphism and mutation databases

BioMutaiDTNA
DMDMi229462840

Proteomic databases

EPDiQ9Y4J8
jPOSTiQ9Y4J8
MassIVEiQ9Y4J8
PaxDbiQ9Y4J8
PeptideAtlasiQ9Y4J8
PRIDEiQ9Y4J8
ProteomicsDBi4321
86213 [Q9Y4J8-1]
86214 [Q9Y4J8-10]
86215 [Q9Y4J8-2]
86216 [Q9Y4J8-3]
86217 [Q9Y4J8-4]
86218 [Q9Y4J8-5]
86219 [Q9Y4J8-6]
86220 [Q9Y4J8-7]
86221 [Q9Y4J8-8]
86222 [Q9Y4J8-9]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1837
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269192; ENSP00000269192; ENSG00000134769 [Q9Y4J8-11]
ENST00000283365; ENSP00000283365; ENSG00000134769 [Q9Y4J8-2]
ENST00000315456; ENSP00000322519; ENSG00000134769 [Q9Y4J8-7]
ENST00000348997; ENSP00000336682; ENSG00000134769 [Q9Y4J8-4]
ENST00000399113; ENSP00000382064; ENSG00000134769 [Q9Y4J8-1]
ENST00000399121; ENSP00000382072; ENSG00000134769 [Q9Y4J8-14]
ENST00000444659; ENSP00000405819; ENSG00000134769 [Q9Y4J8-1]
ENST00000554864; ENSP00000451516; ENSG00000134769 [Q9Y4J8-9]
ENST00000556414; ENSP00000452255; ENSG00000134769 [Q9Y4J8-10]
ENST00000591182; ENSP00000467720; ENSG00000134769 [Q9Y4J8-6]
ENST00000595022; ENSP00000473078; ENSG00000134769 [Q9Y4J8-13]
ENST00000596745; ENSP00000469121; ENSG00000134769 [Q9Y4J8-12]
ENST00000597599; ENSP00000473119; ENSG00000134769 [Q9Y4J8-16]
ENST00000597674; ENSP00000471783; ENSG00000134769 [Q9Y4J8-8]
ENST00000598142; ENSP00000470716; ENSG00000134769 [Q9Y4J8-2]
ENST00000598334; ENSP00000470152; ENSG00000134769 [Q9Y4J8-15]
ENST00000598774; ENSP00000472031; ENSG00000134769 [Q9Y4J8-5]
GeneIDi1837
KEGGihsa:1837
UCSCiuc002kxu.3 human [Q9Y4J8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1837
DisGeNETi1837

GeneCards: human genes, protein and diseases

More...GeneCardsi		DTNA
HGNCiHGNC:3057 DTNA
HPAiCAB015196
HPA071177
MalaCardsiDTNA
MIMi601239 gene
604169 phenotype
neXtProtiNX_Q9Y4J8
OpenTargetsiENSG00000134769
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA27510

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4301 Eukaryota
ENOG410XP3C LUCA
GeneTreeiENSGT00940000153897
HOGENOMiHOG000230684
InParanoidiQ9Y4J8
OMAiACQVRSF
PhylomeDBiQ9Y4J8
TreeFamiTF343849

Enzyme and pathway databases

SIGNORiQ9Y4J8

Miscellaneous databases

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

More...ChiTaRSi		DTNA human
EvolutionaryTraceiQ9Y4J8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DTNA

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

More...GenomeRNAii		1837

Pharos

More...Pharosi		Q9Y4J8

Protein Ontology

More...PROi		PR:Q9Y4J8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134769 Expressed in 210 organ(s), highest expression level in medial globus pallidus
ExpressionAtlasiQ9Y4J8 baseline and differential
GenevisibleiQ9Y4J8 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDTNA_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: Q9Y4J8
Secondary accession number(s): A8K541
, A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59
<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: May 5, 2009
Last modified: September 18, 2019
This is version 187 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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