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UniProtKB - Q08495 (DEMA_HUMAN)

Entry version 199 (22 Apr 2020)
Sequence version 3 (30 Aug 2002)
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Protein

Dematin

Gene

DMTN

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

Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation.6 Publications

<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

Molecular functionActin capping, Actin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5223345 Miscellaneous transport and binding events

<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:
Dematin
Alternative name(s):
Dematin actin-binding protein
Erythrocyte membrane protein band 4.9
<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:DMTN
Synonyms:DMT, EPB49
<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 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%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:3382 DMTN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		125305 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q08495

<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 membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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>Mutagenesisi124S → A: Reduces interaction with plasmodium berghei 14-3-3 protein. Inhibits phosphorylation and interaction with plasmodium berghei 14-3-3 protein; when associated with A-333 and A-403. 1 Publication1
Mutagenesisi333S → A: Reduces interaction with plasmodium berghei 14-3-3 protein. Inhibits phosphorylation and interaction with plasmodium berghei 14-3-3 protein; when associated with A-124 and A-403. 1 Publication1
Mutagenesisi403S → A: Inhibits phosphorylation and interaction with plasmodium berghei 14-3-3 protein; when associated with A-124 and A-333. 2 Publications1
Mutagenesisi403S → E: Reduces F-actin bundling but not F-actin binding activity. 2 Publications1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		2039

Open Targets

More...OpenTargetsi		ENSG00000158856

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27815

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q08495 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DMTN

Domain mapping of disease mutations (DMDM)

More...DMDMi		22654240

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002187551 – 405DematinAdd BLAST405

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 residuei16PhosphoserineCombined sources1
Modified residuei18PhosphoserineCombined sources1
Modified residuei26PhosphoserineCombined sources1
Modified residuei92PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1
Modified residuei105PhosphoserineCombined sources1
Modified residuei110PhosphoserineBy similarity1
Modified residuei113PhosphoserineBy similarity1
Modified residuei156PhosphoserineCombined sources1
Modified residuei226PhosphoserineCombined sources1
Modified residuei269PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1
Modified residuei289PhosphoserineCombined sources1
Modified residuei303PhosphoserineCombined sources1
Modified residuei315PhosphoserineBy similarity1
Modified residuei333PhosphoserineCombined sources1
Modified residuei372PhosphoserineCombined sources1
Modified residuei383PhosphoserineCombined sources1
Modified residuei403Phosphoserine; by PKA3 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated. Phosphorylation at Ser-403 by PKA causes the C-terminal headpiece domain to associate with the N-terminal core domain, and leads to the inhibition of its actin bundling activity.4 Publications
The N-terminus is blocked.

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q08495

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q08495

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q08495

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q08495

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

More...PaxDbi		Q08495

PeptideAtlas

More...PeptideAtlasi		Q08495

PRoteomics IDEntifications database

More...PRIDEi		Q08495

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19903
4281
58618 [Q08495-1]
58619 [Q08495-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q08495

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

More...PhosphoSitePlusi		Q08495

<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

Expressed in platelets (at protein level). Expressed in heart, brain, lung, skeletal muscle, and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000158856 Expressed in right frontal lobe and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q08495 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q08495 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000158856 Tissue enhanced (brain)

<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

Monomeric (isoform 2); under reducing conditions. Self-associates. Exists under oxidizing condition as a trimer of two isoforms 2 and isoform 1 linked by disulfide bonds (Probable).

Found in a complex with DMTN, F-actin and spectrin.

Found in a complex with ADD2, DMTN and SLC2A1.

Interacts with F-actin, ITPKB, RASGRF2 and spectrin.

Isoform 2 interacts with SLC2A1 (via C-terminus cytoplasmic region). Isoform 1 and isoform 2 interact (phosphorylated form) with plasmodium berghei 14-3-3 protein; the interaction occurs in a PKA-dependent manner.

Curated8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108353, 21 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q08495

Protein interaction database and analysis system

More...IntActi		Q08495, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000427866

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q08495 protein

<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

1405
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		Q08495

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q08495

<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>Domaini337 – 405HPPROSITE-ProRule annotationAdd BLAST69

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>Regioni224 – 308Interaction with RASGRF21 PublicationAdd BLAST85

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi216 – 222Poly-Glu7

<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

Both the N-terminal core domain and the C-terminal headpiece domain are sufficient for binding to F-actin and necessary for actin bundling activity.

<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 villin/gelsolin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1044 Eukaryota
ENOG410XRPY LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182850

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001357_12_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q08495

Identification of Orthologs from Complete Genome Data

More...OMAi		DWLENRS

Database of Orthologous Groups

More...OrthoDBi		1083894at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q08495

TreeFam database of animal gene trees

More...TreeFami		TF318042

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.950.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032402 AbLIM_anchor
IPR003128 Villin_headpiece
IPR036886 Villin_headpiece_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16182 AbLIM_anchor, 2 hits
PF02209 VHP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00153 VHP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47050 SSF47050, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51089 HP, 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 (4+)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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08495-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MERLQKQPLT SPGSVSPSRD SSVPGSPSSI VAKMDNQVLG YKDLAAIPKD 
        60         70         80         90        100
KAILDIERPD LMIYEPHFTY SLLEHVELPR SRERSLSPKS TSPPPSPEVW 
       110        120        130        140        150
ADSRSPGIIS QASAPRTTGT PRTSLPHFHH PETSRPDSNI YKKPPIYKQR 
       160        170        180        190        200
ESVGGSPQTK HLIEDLIIES SKFPAAQPPD PNQPAKIETD YWPCPPSLAV 
       210        220        230        240        250
VETEWRKRKA SRRGAEEEEE EEDDDSGEEM KALRERQREE LSKVTSNLGK 
       260        270        280        290        300
MILKEEMEKS LPIRRKTRSL PDRTPFHTSL HQGTSKSSSL PAYGRTTLSR 
       310        320        330        340        350
LQSTEFSPSG SETGSPGLQN GEGQRGRMDR GNSLPCVLEQ KIYPYEMLVV 
       360        370        380        390        400
TNKGRTKLPP GVDRMRLERH LSAEDFSRVF AMSPEEFGKL ALWKRNELKK 

KASLF
Length:405
Mass (Da):45,514
Last modified:August 30, 2002 - v3
<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:i77D6372E5B16EFF4
GO
Isoform 2 (identifier: Q08495-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     320-341: Missing.

Show »
Length:383
Mass (Da):43,088
Checksum:i3C46AB7704507B6E
GO
Isoform 3 (identifier: Q08495-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-31: Missing.
     320-341: Missing.

Show »
Length:358
Mass (Da):40,680
Checksum:i1F985F9D3643F995
GO
Isoform 4 (identifier: Q08495-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-31: Missing.
     83-97: Missing.

Show »
Length:365
Mass (Da):41,558
Checksum:iBD11861605E9B618
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RFK4E5RFK4_HUMAN
Dematin
DMTN
218Annotation 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>
E5RGQ7E5RGQ7_HUMAN
Dematin
DMTN
148Annotation 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>
E5RJ61E5RJ61_HUMAN
Dematin
DMTN
110Annotation 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>
E5RJC0E5RJC0_HUMAN
Dematin
DMTN
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>
A0A087WT94A0A087WT94_HUMAN
Dematin
DMTN
71Annotation 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>
E5RGQ0E5RGQ0_HUMAN
Dematin
DMTN
201Annotation 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>
A0A087WUC0A0A087WUC0_HUMAN
Dematin
DMTN
73Annotation 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>
E5RFK6E5RFK6_HUMAN
Dematin
DMTN
71Annotation 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 conflicti81S → Q in AAA58438 (PubMed:8341682).Curated1
Sequence conflicti81S → Q in AAC50223 (PubMed:7615546).Curated1
Sequence conflicti155G → A in BAG52385 (PubMed:14702039).Curated1
Sequence conflicti292A → R in AAA58438 (PubMed:8341682).Curated1
Sequence conflicti292A → R in AAC50223 (PubMed:7615546).Curated1
Sequence conflicti347M → V in AAA58438 (PubMed:8341682).Curated1
Sequence conflicti380F → S in AAA58438 (PubMed:8341682).Curated1
Sequence conflicti403S → P in BAG52385 (PubMed:14702039).Curated1

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_0448037 – 31Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_05742883 – 97Missing in isoform 4. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_004189320 – 341Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST22

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
L19713 mRNA Translation: AAA58438.1
U28389 mRNA Translation: AAC50223.1
AK055842 mRNA Translation: BAG51582.1
AK091581 mRNA Translation: BAG52385.1
AK289650 mRNA Translation: BAF82339.1
AK295452 mRNA Translation: BAG58387.1
BT007396 mRNA Translation: AAP36060.1
AC091171 Genomic DNA No translation available.
BC006318 mRNA Translation: AAH06318.1
BC017445 mRNA Translation: AAH17445.1
BC052805 mRNA Translation: AAH52805.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47820.1 [Q08495-2]
CCDS47821.1 [Q08495-3]
CCDS6020.1 [Q08495-1]
CCDS78311.1 [Q08495-4]

Protein sequence database of the Protein Information Resource

More...PIRi		A48222
I39062

NCBI Reference Sequences

More...RefSeqi		NP_001107607.1, NM_001114135.4 [Q08495-1]
NP_001107608.1, NM_001114136.2 [Q08495-1]
NP_001107609.1, NM_001114137.3 [Q08495-2]
NP_001107610.1, NM_001114138.2 [Q08495-2]
NP_001107611.1, NM_001114139.3 [Q08495-3]
NP_001289745.1, NM_001302816.2 [Q08495-2]
NP_001289746.1, NM_001302817.2 [Q08495-4]
NP_001310307.1, NM_001323378.1 [Q08495-1]
NP_001310308.1, NM_001323379.1 [Q08495-1]
NP_001310309.1, NM_001323380.1 [Q08495-1]
NP_001310310.1, NM_001323381.1 [Q08495-1]
NP_001310311.1, NM_001323382.1 [Q08495-1]
NP_001310312.1, NM_001323383.1 [Q08495-2]
NP_001310313.1, NM_001323384.1 [Q08495-2]
NP_001310314.1, NM_001323385.1 [Q08495-2]
NP_001310316.1, NM_001323387.1 [Q08495-3]
NP_001310317.1, NM_001323388.1 [Q08495-4]
NP_001310318.1, NM_001323389.1
NP_001310319.1, NM_001323390.1
NP_001310320.1, NM_001323391.1
NP_001310321.1, NM_001323392.1
NP_001310322.1, NM_001323393.1
NP_001310323.1, NM_001323394.1
NP_001310324.1, NM_001323395.1
NP_001310325.1, NM_001323396.1
NP_001310326.1, NM_001323397.1
NP_001310327.1, NM_001323398.1
NP_001310328.1, NM_001323399.1
NP_001310329.1, NM_001323400.1
NP_001310330.1, NM_001323401.1
NP_001969.2, NM_001978.4 [Q08495-1]
XP_005273489.1, XM_005273432.1
XP_016868678.1, XM_017013189.1 [Q08495-2]
XP_016868682.1, XM_017013193.1 [Q08495-4]
XP_016868683.1, XM_017013194.1 [Q08495-4]
XP_016868684.1, XM_017013195.1 [Q08495-3]
XP_016868685.1, XM_017013196.1 [Q08495-3]
XP_016868686.1, XM_017013197.1 [Q08495-3]
XP_016868687.1, XM_017013198.1 [Q08495-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265800; ENSP00000265800; ENSG00000158856 [Q08495-1]
ENST00000358242; ENSP00000350977; ENSG00000158856 [Q08495-1]
ENST00000381470; ENSP00000370879; ENSG00000158856 [Q08495-2]
ENST00000415253; ENSP00000401291; ENSG00000158856 [Q08495-2]
ENST00000432128; ENSP00000416111; ENSG00000158856 [Q08495-1]
ENST00000443491; ENSP00000397904; ENSG00000158856 [Q08495-3]
ENST00000517305; ENSP00000430609; ENSG00000158856 [Q08495-1]
ENST00000517600; ENSP00000430618; ENSG00000158856 [Q08495-4]
ENST00000519907; ENSP00000429377; ENSG00000158856 [Q08495-2]
ENST00000523266; ENSP00000427866; ENSG00000158856 [Q08495-1]
ENST00000523782; ENSP00000429234; ENSG00000158856 [Q08495-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2039

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2039

UCSC genome browser

More...UCSCi		uc064kwf.1 human [Q08495-1]
uc064kwj.1 human

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
L19713 mRNA Translation: AAA58438.1
U28389 mRNA Translation: AAC50223.1
AK055842 mRNA Translation: BAG51582.1
AK091581 mRNA Translation: BAG52385.1
AK289650 mRNA Translation: BAF82339.1
AK295452 mRNA Translation: BAG58387.1
BT007396 mRNA Translation: AAP36060.1
AC091171 Genomic DNA No translation available.
BC006318 mRNA Translation: AAH06318.1
BC017445 mRNA Translation: AAH17445.1
BC052805 mRNA Translation: AAH52805.1
CCDSiCCDS47820.1 [Q08495-2]
CCDS47821.1 [Q08495-3]
CCDS6020.1 [Q08495-1]
CCDS78311.1 [Q08495-4]
PIRiA48222
I39062
RefSeqiNP_001107607.1, NM_001114135.4 [Q08495-1]
NP_001107608.1, NM_001114136.2 [Q08495-1]
NP_001107609.1, NM_001114137.3 [Q08495-2]
NP_001107610.1, NM_001114138.2 [Q08495-2]
NP_001107611.1, NM_001114139.3 [Q08495-3]
NP_001289745.1, NM_001302816.2 [Q08495-2]
NP_001289746.1, NM_001302817.2 [Q08495-4]
NP_001310307.1, NM_001323378.1 [Q08495-1]
NP_001310308.1, NM_001323379.1 [Q08495-1]
NP_001310309.1, NM_001323380.1 [Q08495-1]
NP_001310310.1, NM_001323381.1 [Q08495-1]
NP_001310311.1, NM_001323382.1 [Q08495-1]
NP_001310312.1, NM_001323383.1 [Q08495-2]
NP_001310313.1, NM_001323384.1 [Q08495-2]
NP_001310314.1, NM_001323385.1 [Q08495-2]
NP_001310316.1, NM_001323387.1 [Q08495-3]
NP_001310317.1, NM_001323388.1 [Q08495-4]
NP_001310318.1, NM_001323389.1
NP_001310319.1, NM_001323390.1
NP_001310320.1, NM_001323391.1
NP_001310321.1, NM_001323392.1
NP_001310322.1, NM_001323393.1
NP_001310323.1, NM_001323394.1
NP_001310324.1, NM_001323395.1
NP_001310325.1, NM_001323396.1
NP_001310326.1, NM_001323397.1
NP_001310327.1, NM_001323398.1
NP_001310328.1, NM_001323399.1
NP_001310329.1, NM_001323400.1
NP_001310330.1, NM_001323401.1
NP_001969.2, NM_001978.4 [Q08495-1]
XP_005273489.1, XM_005273432.1
XP_016868678.1, XM_017013189.1 [Q08495-2]
XP_016868682.1, XM_017013193.1 [Q08495-4]
XP_016868683.1, XM_017013194.1 [Q08495-4]
XP_016868684.1, XM_017013195.1 [Q08495-3]
XP_016868685.1, XM_017013196.1 [Q08495-3]
XP_016868686.1, XM_017013197.1 [Q08495-3]
XP_016868687.1, XM_017013198.1 [Q08495-3]

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
1QZPNMR-A342-405[»]
1ZV6NMR-A342-405[»]
SMRiQ08495
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108353, 21 interactors
CORUMiQ08495
IntActiQ08495, 16 interactors
STRINGi9606.ENSP00000427866

PTM databases

iPTMnetiQ08495
PhosphoSitePlusiQ08495

Polymorphism and mutation databases

BioMutaiDMTN
DMDMi22654240

Proteomic databases

EPDiQ08495
jPOSTiQ08495
MassIVEiQ08495
MaxQBiQ08495
PaxDbiQ08495
PeptideAtlasiQ08495
PRIDEiQ08495
ProteomicsDBi19903
4281
58618 [Q08495-1]
58619 [Q08495-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		9250 231 antibodies

The DNASU plasmid repository

More...DNASUi		2039

Genome annotation databases

EnsembliENST00000265800; ENSP00000265800; ENSG00000158856 [Q08495-1]
ENST00000358242; ENSP00000350977; ENSG00000158856 [Q08495-1]
ENST00000381470; ENSP00000370879; ENSG00000158856 [Q08495-2]
ENST00000415253; ENSP00000401291; ENSG00000158856 [Q08495-2]
ENST00000432128; ENSP00000416111; ENSG00000158856 [Q08495-1]
ENST00000443491; ENSP00000397904; ENSG00000158856 [Q08495-3]
ENST00000517305; ENSP00000430609; ENSG00000158856 [Q08495-1]
ENST00000517600; ENSP00000430618; ENSG00000158856 [Q08495-4]
ENST00000519907; ENSP00000429377; ENSG00000158856 [Q08495-2]
ENST00000523266; ENSP00000427866; ENSG00000158856 [Q08495-1]
ENST00000523782; ENSP00000429234; ENSG00000158856 [Q08495-3]
GeneIDi2039
KEGGihsa:2039
UCSCiuc064kwf.1 human [Q08495-1]
uc064kwj.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2039
DisGeNETi2039

GeneCards: human genes, protein and diseases

More...GeneCardsi		DMTN
HGNCiHGNC:3382 DMTN
HPAiENSG00000158856 Tissue enhanced (brain)
MIMi125305 gene
neXtProtiNX_Q08495
OpenTargetsiENSG00000158856
PharmGKBiPA27815

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1044 Eukaryota
ENOG410XRPY LUCA
GeneTreeiENSGT00950000182850
HOGENOMiCLU_001357_12_1_1
InParanoidiQ08495
OMAiDWLENRS
OrthoDBi1083894at2759
PhylomeDBiQ08495
TreeFamiTF318042

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

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

More...ChiTaRSi		DMTN human
EvolutionaryTraceiQ08495

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EPB49

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

More...GenomeRNAii		2039
PharosiQ08495 Tbio

Protein Ontology

More...PROi		PR:Q08495
RNActiQ08495 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000158856 Expressed in right frontal lobe and 211 other tissues
ExpressionAtlasiQ08495 baseline and differential
GenevisibleiQ08495 HS

Family and domain databases

Gene3Di1.10.950.10, 1 hit
InterProiView protein in InterPro
IPR032402 AbLIM_anchor
IPR003128 Villin_headpiece
IPR036886 Villin_headpiece_dom_sf
PfamiView protein in Pfam
PF16182 AbLIM_anchor, 2 hits
PF02209 VHP, 1 hit
SMARTiView protein in SMART
SM00153 VHP, 1 hit
SUPFAMiSSF47050 SSF47050, 1 hit
PROSITEiView protein in PROSITE
PS51089 HP, 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 nameiDEMA_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: Q08495
Secondary accession number(s): A8K0T5
, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q13215, Q9BRE3
<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: October 1, 1994
Last sequence update: August 30, 2002
Last modified: April 22, 2020
This is version 199 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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