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UniProtKB - Q7RTS9 (DYM_HUMAN)

Entry version 134 (07 Apr 2021)
Sequence version 1 (15 Dec 2003)
Previous versions | rss
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Protein

Dymeclin

Gene

DYM

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

Necessary for correct organization of Golgi apparatus. Involved in bone development.1 Publication

<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

  • enzyme binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

  • bone development Source: UniProtKB
  • Golgi organization Source: UniProtKB
Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7RTS9

<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:
Dymeclin
Alternative name(s):
Dyggve-Melchior-Clausen syndrome protein
<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:DYM
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21317, DYM

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607461, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7RTS9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000141627.13

<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

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

Cytoplasm, Golgi apparatus, Membrane

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyggve-Melchior-Clausen syndrome (DMC)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.
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_054499469N → Y in DMC; results in protein mis-localization and aggregation. 2 PublicationsCorresponds to variant dbSNP:rs120074163EnsemblClinVar.1
Smith-McCort dysplasia 1 (SMC1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02274087E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar.1
Natural variantiVAR_065293542C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2G → A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro. 1 Publication1

Keywords - Diseasei

Disease variant, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		54808

MalaCards human disease database

More...MalaCardsi		DYM
MIMi223800, phenotype
607326, phenotype

Open Targets

More...OpenTargetsi		ENSG00000141627

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

More...Orphaneti		239, Dyggve-Melchior-Clausen disease
178355, Smith-McCort dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134879547

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7RTS9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DYM

Domain mapping of disease mutations (DMDM)

More...DMDMi		68565365

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000868832 – 669DymeclinAdd BLAST668

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1 Publication1

<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

Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.1 Publication

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7RTS9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7RTS9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7RTS9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7RTS9

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

More...PaxDbi		Q7RTS9

PeptideAtlas

More...PeptideAtlasi		Q7RTS9

PRoteomics IDEntifications database

More...PRIDEi		Q7RTS9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68896 [Q7RTS9-1]
68897 [Q7RTS9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7RTS9

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

More...PhosphoSitePlusi		Q7RTS9

<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 most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141627, Expressed in pancreas and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7RTS9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7RTS9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000141627, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GOLM1 and PPIB.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120165, 27 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q7RTS9

Protein interaction database and analysis system

More...IntActi		Q7RTS9, 19 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000269445

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7RTS9, protein

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

<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 dymeclin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2225, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008772

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_013309_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7RTS9

Identification of Orthologs from Complete Genome Data

More...OMAi		WNGLLNY

Database of Orthologous Groups

More...OrthoDBi		982213at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7RTS9

TreeFam database of animal gene trees

More...TreeFami		TF314870

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019142, Dymeclin

The PANTHER Classification System

More...PANTHERi		PTHR12895, PTHR12895, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. 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 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7RTS9-1) [UniParc]FASTAAdd to basket

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
MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL 
        60         70         80         90        100
KLLEEATISV CRSLVENNPR TGNLGALIKV FLSRTKELKL SAECQNHIFI 
       110        120        130        140        150
WQTHNALFII CCLLKVFICQ MSEEELQLHF TYEEKSPGNY SSDSEDLLEE 
       160        170        180        190        200
LLCCLMQLIT DIPLLDITYE ISVEAISTMV VFLSCQLFHK EVLRQSISHK 
       210        220        230        240        250
YLMRGPCLPY TSKLVKTLLY NFIRQEKPPP PGAHVFPQQS DGGGLLYGLA 
       260        270        280        290        300
SGVATGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA 
       310        320        330        340        350
PNPYRQAIMS FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL 
       360        370        380        390        400
LLYTLLHQNS NIRTYMLART DMENLVLPIL EILYHVEERN SHHVYMALII 
       410        420        430        440        450
LLILTEDDGF NRSIHEVILK NITWYSERVL TEISLGSLLI LVVIRTIQYN 
       460        470        480        490        500
MTRTRDKYLH TNCLAALANM SAQFRSLHQY AAQRIISLFS LLSKKHNKVL 
       510        520        530        540        550
EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN SCLTNSLHHN 
       560        570        580        590        600
PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV 
       610        620        630        640        650
ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS 
       660 
AVGLYWNPQD IQLFTMDSD
Length:669
Mass (Da):75,935
Last modified:December 15, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7C8A216A09DBE43F
GO
Isoform 2 (identifier: Q7RTS9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: V → A
     66-255: Missing.

Show »
Length:479
Mass (Da):54,425
Checksum:i1150D81BF01D76BC
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRG4J3KRG4_HUMAN
Dymeclin
DYM
163Annotation 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>
J3QQT7J3QQT7_HUMAN
Dymeclin
DYM
116Annotation 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>
J3QR81J3QR81_HUMAN
Dymeclin
DYM
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>
J3QSE7J3QSE7_HUMAN
Dymeclin
DYM
141Annotation 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>
J3KSF9J3KSF9_HUMAN
Dymeclin
DYM
139Annotation 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>
J3QRF2J3QRF2_HUMAN
Dymeclin
DYM
142Annotation 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>
A0A6Q8PF81A0A6Q8PF81_HUMAN
Dymeclin
DYM
724Annotation 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>
J3QRD8J3QRD8_HUMAN
Dymeclin
DYM
67Annotation 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>
E9PG80E9PG80_HUMAN
Dymeclin
DYM
39Annotation 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>
J3KTF2J3KTF2_HUMAN
Dymeclin
DYM
74Annotation 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 conflicti66E → K in BAC11088 (PubMed:14702039).Curated1
Sequence conflicti249L → P in BAC11088 (PubMed:14702039).Curated1
Sequence conflicti381E → G in BAF83992 (Ref. 3) Curated1
Sequence conflicti408D → Y in AAH64394 (PubMed:15489334).Curated1
Sequence conflicti453R → K in BAF83992 (Ref. 3) Curated1
Sequence conflicti537E → G in BAF83992 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02274087E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar.1
Natural variantiVAR_054499469N → Y in DMC; results in protein mis-localization and aggregation. 2 PublicationsCorresponds to variant dbSNP:rs120074163EnsemblClinVar.1
Natural variantiVAR_065293542C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165Ensembl.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_03644265V → A in isoform 2. 1 Publication1
Alternative sequenceiVSP_03644366 – 255Missing in isoform 2. 1 PublicationAdd BLAST190

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
BK000950 Genomic DNA Translation: DAA00396.1
AK074611 mRNA Translation: BAC11088.1
AK091256 mRNA Translation: BAG52319.1
AK291303 mRNA Translation: BAF83992.1
AK296579 mRNA Translation: BAG59199.1
AK315091 mRNA Translation: BAG37556.1
CH471096 Genomic DNA Translation: EAW62933.1
BC001252 mRNA Translation: AAH01252.2
BC064394 mRNA Translation: AAH64394.1
AY364250 mRNA Translation: AAQ76809.1
AL390156 mRNA Translation: CAB99092.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11937.1 [Q7RTS9-1]

NCBI Reference Sequences

More...RefSeqi		NP_060123.3, NM_017653.3 [Q7RTS9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1]
ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54808

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54808

UCSC genome browser

More...UCSCi		uc002ldi.2, human [Q7RTS9-1]

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
BK000950 Genomic DNA Translation: DAA00396.1
AK074611 mRNA Translation: BAC11088.1
AK091256 mRNA Translation: BAG52319.1
AK291303 mRNA Translation: BAF83992.1
AK296579 mRNA Translation: BAG59199.1
AK315091 mRNA Translation: BAG37556.1
CH471096 Genomic DNA Translation: EAW62933.1
BC001252 mRNA Translation: AAH01252.2
BC064394 mRNA Translation: AAH64394.1
AY364250 mRNA Translation: AAQ76809.1
AL390156 mRNA Translation: CAB99092.1
CCDSiCCDS11937.1 [Q7RTS9-1]
RefSeqiNP_060123.3, NM_017653.3 [Q7RTS9-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120165, 27 interactors
ELMiQ7RTS9
IntActiQ7RTS9, 19 interactors
STRINGi9606.ENSP00000269445

PTM databases

iPTMnetiQ7RTS9
PhosphoSitePlusiQ7RTS9

Genetic variation databases

BioMutaiDYM
DMDMi68565365

Proteomic databases

EPDiQ7RTS9
jPOSTiQ7RTS9
MassIVEiQ7RTS9
MaxQBiQ7RTS9
PaxDbiQ7RTS9
PeptideAtlasiQ7RTS9
PRIDEiQ7RTS9
ProteomicsDBi68896 [Q7RTS9-1]
68897 [Q7RTS9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22572, 126 antibodies

Genome annotation databases

EnsembliENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1]
ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]
GeneIDi54808
KEGGihsa:54808
UCSCiuc002ldi.2, human [Q7RTS9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54808
DisGeNETi54808

GeneCards: human genes, protein and diseases

More...GeneCardsi		DYM
HGNCiHGNC:21317, DYM
HPAiENSG00000141627, Low tissue specificity
MalaCardsiDYM
MIMi223800, phenotype
607326, phenotype
607461, gene
neXtProtiNX_Q7RTS9
OpenTargetsiENSG00000141627
Orphaneti239, Dyggve-Melchior-Clausen disease
178355, Smith-McCort dysplasia
PharmGKBiPA134879547
VEuPathDBiHostDB:ENSG00000141627.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2225, Eukaryota
GeneTreeiENSGT00390000008772
HOGENOMiCLU_013309_2_0_1
InParanoidiQ7RTS9
OMAiWNGLLNY
OrthoDBi982213at2759
PhylomeDBiQ7RTS9
TreeFamiTF314870

Enzyme and pathway databases

PathwayCommonsiQ7RTS9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54808, 9 hits in 1002 CRISPR screens

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

More...ChiTaRSi		DYM, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DYM

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

More...GenomeRNAii		54808
PharosiQ7RTS9, Tbio

Protein Ontology

More...PROi		PR:Q7RTS9
RNActiQ7RTS9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141627, Expressed in pancreas and 212 other tissues
ExpressionAtlasiQ7RTS9, baseline and differential
GenevisibleiQ7RTS9, HS

Family and domain databases

InterProiView protein in InterPro
IPR019142, Dymeclin
PANTHERiPTHR12895, PTHR12895, 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 nameiDYM_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: Q7RTS9
Secondary accession number(s): A8K5I8
, B2RCF9, B4DKI7, Q3ZTS8, Q6P2P5, Q8N2M0, Q9BVE9, Q9NPU7
<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: July 5, 2005
Last sequence update: December 15, 2003
Last modified: April 7, 2021
This is version 134 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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