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Protein

Synemin

Gene

SYNM

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

Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.3 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

GO - Biological processi

<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:
Synemin
Alternative name(s):
Desmuslin
<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:SYNM
Synonyms:DMN, KIAA0353, SYN
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000182253.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24466 SYNM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606087 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15061

<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; Source: COMPARTMENTS

<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

Cell junction, Cytoplasm, Cytoskeleton, Intermediate filament

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
23336

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164726408

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SYNM

<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_00000637781 – 1565SyneminAdd BLAST1565

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 residuei429PhosphoserineCombined sources1
Modified residuei598PhosphothreonineCombined sources1
Modified residuei651PhosphothreonineCombined sources1
Modified residuei653PhosphoserineCombined sources1
Modified residuei777PhosphoserineBy similarity1
Modified residuei1044PhosphoserineCombined sources1
Modified residuei1049PhosphoserineCombined sources1
Modified residuei1077PhosphoserineBy similarity1
Modified residuei1087PhosphoserineBy similarity1
Modified residuei1181PhosphoserineCombined sources1
Modified residuei1184PhosphoserineCombined sources1
Modified residuei1435PhosphoserineCombined sources1
Modified residuei1487Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O15061

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O15061

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O15061

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

More...
PaxDbi
O15061

PeptideAtlas

More...
PeptideAtlasi
O15061

PRoteomics IDEntifications database

More...
PRIDEi
O15061

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48411
48412 [O15061-2]
48413 [O15061-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O15061

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

More...
PhosphoSitePlusi
O15061

<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

Isoform 2 is strongly detected in adult heart, fetal skeletal muscles and fetal heart. Isoform 1 is weakly detected in fetal heart and also in fetal skeletal muscle. Isoform 1 and isoform 2 are detected in adult bladder (at protein level). The mRNA is predominantly expressed in heart and muscle with some expression in brain which may be due to tissue-specific isoforms.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In lens, first detected at 16 weeks when expression is weakly and uniformly distributed. Subsequently, expression becomes much stronger in the epithelium of the anterior part at 25 weeks and later. In retina, weakly expressed at 15 weeks in the nerve fiber and ganglion cell layers (NFL and GCL). From 25 weeks onwards, much stronger expression is observed in the endfeet of Mueller cells, the NFL, and GCL, and much lower expression is observed in a minor subpopulation of cells in the inner cell layer (INL). At 30 and 36 weeks, expression remains in the neural retina, and subsequently becomes stronger in the NFL, GCL, and INL and is decreased in Mueller cells. At 36 weeks, also expressed at the external border of the outer nuclear layer (ONL) (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000182253 Expressed in 233 organ(s), highest expression level in cauda epididymis

CleanEx database of gene expression profiles

More...
CleanExi
HS_SYNM

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O15061 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O15061 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017192
HPA040066
HPA044200

<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 GFAP and VIM (By similarity). Isoform 1 interacts with TLN1 and VCL. Isoform 2 interacts with DES and DTNA. Isoform 1 and isoform 2 interact with DMD and UTRN.By similarity5 Publications

<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
TTNQ8WZ423EBI-7843148,EBI-681210

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116923, 21 interactors

Protein interaction database and analysis system

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IntActi
O15061, 10 interactors

Molecular INTeraction database

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MINTi
O15061

STRING: functional protein association networks

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STRINGi
9606.ENSP00000336775

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6EWOX-ray2.30C/G426-434[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O15061

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

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SMRi
O15061

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini11 – 322IF rodPROSITE-ProRule annotationAdd BLAST312

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 – 10Head10
Regioni11 – 320Interaction with DMD and UTRN1 PublicationAdd BLAST310
Regioni11 – 49Coil 1AAdd BLAST39
Regioni50 – 58Linker 19
Regioni59 – 163Coil 1BAdd BLAST105
Regioni164 – 186Linker 12Add BLAST23
Regioni187 – 300Coil 2Add BLAST114
Regioni301 – 1565TailAdd BLAST1265
Regioni1152 – 1463Interaction with TLN1 and VCL2 PublicationsAdd BLAST312
Regioni1244 – 1563Interaction with DMD and UTRN1 PublicationAdd BLAST320

<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 intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH92 Eukaryota
ENOG4111GBF LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000154476

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG008974

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15061

KEGG Orthology (KO)

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KOi
K10376

Database of Orthologous Groups

More...
OrthoDBi
104920at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O15061

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR030634 SYNM

The PANTHER Classification System

More...
PANTHERi
PTHR23239 PTHR23239, 1 hit
PTHR23239:SF194 PTHR23239:SF194, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00038 Filament, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01391 Filament, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15061-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLSWRLQTGP EKAELQELNA RLYDYVCRVR ELERENLLLE EELRGRRGRE
60 70 80 90 100
GLWAEGQARC AEEARSLRQQ LDELSWATAL AEGERDALRR ELRELQRLDA
110 120 130 140 150
EERAARGRLD AELGAQQREL QEALGARAAL EALLGRLQAE RRGLDAAHER
160 170 180 190 200
DVRELRARAA SLTMHFRARA TGPAAPPPRL REVHDSYALL VAESWRETVQ
210 220 230 240 250
LYEDEVRELE EALRRGQESR LQAEEETRLC AQEAEALRRE ALGLEQLRAR
260 270 280 290 300
LEDALLRMRE EYGIQAEERQ RAIDCLEDEK ATLTLAMADW LRDYQDLLQV
310 320 330 340 350
KTGLSLEVAT YRALLEGESN PEIVIWAEHV ENMPSEFRNK SYHYTDSLLQ
360 370 380 390 400
RENERNLFSR QKAPLASFNH SSALYSNLSG HRGSQTGTSI GGDARRGFLG
410 420 430 440 450
SGYSSSATTQ QENSYGKAVS SQTNVRTFSP TYGLLRNTEA QVKTFPDRPK
460 470 480 490 500
AGDTREVPVY IGEDSTIARE SYRDRRDKVA AGASESTRSN ERTVILGKKT
510 520 530 540 550
EVKATREQER NRPETIRTKP EEKMFDSKEK ASEERNLRWE ELTKLDKEAR
560 570 580 590 600
QRESQQMKEK AKEKDSPKEK SVREREVPIS LEVSQDRRAE VSPKGLQTPV
610 620 630 640 650
KDAGGGTGRE AEARELRFRL GTSDATGSLQ GDSMTETVAE NIVTSILKQF
660 670 680 690 700
TQSPETEASA DSFPDTKVTY VDRKELPGER KTKTEIVVES KLTEDVDVSD
710 720 730 740 750
EAGLDYLLSK DIKEVGLKGK SAEQMIGDII NLGLKGREGR AKVVNVEIVE
760 770 780 790 800
EPVSYVSGEK PEEFSVPFKV EEVEDVSPGP WGLVKEEEGY GESDVTFSVN
810 820 830 840 850
QHRRTKQPQE NTTHVEEVTE AGDSEGEQSY FVSTPDEHPG GHDRDDGSVY
860 870 880 890 900
GQIHIEEEST IRYSWQDEIV QGTRRRTQKD GAVGEKVVKP LDVPAPSLEG
910 920 930 940 950
DLGSTHWKEQ ARSGEFHAEP TVIEKEIKIP HEFHTSMKGI SSKEPRQQLV
960 970 980 990 1000
EVIGQLEETL PERMREELSA LTREGQGGPG SVSVDVKKVQ GAGGSSVTLV
1010 1020 1030 1040 1050
AEVNVSQTVD ADRLDLEELS KDEASEMEKA VESVVRESLS RQRSPAPGSP
1060 1070 1080 1090 1100
DEEGGAEAPA AGIRFRRWAT RELYIPSGES EVAGGASHSS GQRTPQGPVS
1110 1120 1130 1140 1150
ATVEVSSPTG FAQSQVLEDV SQAARHIKLG PSEVWRTERM SYEGPTAEVV
1160 1170 1180 1190 1200
EVSAGGDLSQ AASPTGASRS VRHVTLGPGQ SPLSREVIFL GPAPACPEAW
1210 1220 1230 1240 1250
GSPEPGPAES SADMDGSGRH STFGCRQFHA EKEIIFQGPI SAAGKVGDYF
1260 1270 1280 1290 1300
ATEESVGTQT SVRQLQLGPK EGFSGQIQFT APLSDKVELG VIGDSVHMEG
1310 1320 1330 1340 1350
LPGSSTSIRH ISIGPQRHQT TQQIVYHGLV PQLGESGDSE STVHGEGSAD
1360 1370 1380 1390 1400
VHQATHSHTS GRQTVMTEKS TFQSVVSESP QEDSAGDTSG AEMTSGVSRS
1410 1420 1430 1440 1450
FRHIRLGPTE TETSEHIAIR GPVSRTFVLA GSADSPELGK LADSSRTLRH
1460 1470 1480 1490 1500
IAPGPKETSF TFQMDVSNVE AIRSRTQEAG ALGVSDRGSW RDADSRNDQA
1510 1520 1530 1540 1550
VGVSFKASAG EGDQAHREQG KEQAMFDKKV QLQRMVDQRS VISDEKKVAL
1560
LYLDNEEEEN DGHWF
Length:1,565
Mass (Da):172,768
Last modified:January 23, 2002 - 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:i18D19000D3CEA537
GO
Isoform 2 (identifier: O15061-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     1152-1463: Missing.

Show »
Length:1,253
Mass (Da):140,135
Checksum:i88162E538D848F2A
GO
Isoform 3 (identifier: O15061-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     336-339: EFRN → DGCE
     340-1565: Missing.

Show »
Length:339
Mass (Da):39,042
Checksum:i090EEA199A0041C4
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B7B1A0A075B7B1_HUMAN
Desmuslin, isoform CRA_a
SYNM DMN, hCG_28262
1,253Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JIE4C9JIE4_HUMAN
Synemin
SYNM
339Annotation 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>
H0YL34H0YL34_HUMAN
Synemin
SYNM
967Annotation 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>

<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 AAI10067 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA20810 differs from that shown. Reason: Erroneous initiation.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 conflicti4W → L in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti4W → L in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti4W → L in CAG27071 (Ref. 3) Curated1
Sequence conflicti24Missing in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti24Missing in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti52Missing in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti52Missing in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti197E → G in CAG27071 (Ref. 3) Curated1
Sequence conflicti241A → T in CAG27071 (Ref. 3) Curated1
Sequence conflicti274D → G in CAG27071 (Ref. 3) Curated1
Sequence conflicti318E → G in CAG27071 (Ref. 3) Curated1
Sequence conflicti322E → Q in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti322E → Q in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti322E → Q in CAG27071 (Ref. 3) Curated1
Sequence conflicti373A → V in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti373A → V in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti555Q → H in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti555Q → H in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti564K → N in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti564K → N in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti655E → Q in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti655E → Q in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti666T → A in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti666T → A in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti687V → L in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti687V → L in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti720K → N in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti720K → N in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti845D → N in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti845D → N in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti856E → Q in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti856E → Q in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti874R → P in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti874R → P in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti965R → K in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti965R → K in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1004N → D in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti1004N → D in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1019L → V in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti1019L → V in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1039L → M in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti1039L → M in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1076P → L in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti1076P → L in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1151E → G in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1292I → T in CAC83859 (PubMed:11737198).Curated1
Sequence conflicti1493A → R in AAI10067 (PubMed:15489334).Curated1
Sequence conflicti1509A → V in CAC83858 (PubMed:11737198).Curated1
Sequence conflicti1509A → V in CAC83859 (PubMed:11737198).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012295272A → V2 Publications1
Natural variantiVAR_012296330V → I1 Publication1
Natural variantiVAR_012297338R → W1 Publication1
Natural variantiVAR_059378355R → W3 PublicationsCorresponds to variant dbSNP:rs3743242Ensembl.1
Natural variantiVAR_059379462G → S2 PublicationsCorresponds to variant dbSNP:rs3134595Ensembl.1
Natural variantiVAR_012298567P → L2 Publications1
Natural variantiVAR_012299612E → A1 Publication1
Natural variantiVAR_012300761P → L1 Publication1
Natural variantiVAR_012301946R → W1 Publication1
Natural variantiVAR_012302976Q → R1 Publication1
Natural variantiVAR_0123031059P → L1 Publication1
Natural variantiVAR_0123041067R → P1 Publication1
Natural variantiVAR_0123051077S → L1 Publication1
Natural variantiVAR_0593801130G → S. Corresponds to variant dbSNP:rs9920074Ensembl.1
Natural variantiVAR_0593811345G → A. Corresponds to variant dbSNP:rs7167599Ensembl.1
Natural variantiVAR_0123061386G → E1 PublicationCorresponds to variant dbSNP:rs2292288Ensembl.1
Natural variantiVAR_0123071462F → C. Corresponds to variant dbSNP:rs2292287Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_036478336 – 339EFRN → DGCE in isoform 3. 1 Publication4
Alternative sequenceiVSP_036479340 – 1565Missing in isoform 3. 1 PublicationAdd BLAST1226
Alternative sequenceiVSP_0024651152 – 1463Missing in isoform 2. 2 PublicationsAdd BLAST312

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
AJ310521 mRNA Translation: CAC83858.1
AJ310522 mRNA Translation: CAC83859.1
AF359284 mRNA Translation: AAK57487.1
AJ697971 mRNA Translation: CAG27071.1
AB002351 mRNA Translation: BAA20810.2 Different initiation.
BC110066 mRNA Translation: AAI10067.1 Different initiation.
BC151243 mRNA Translation: AAI51244.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73786.1 [O15061-2]
CCDS73787.1 [O15061-1]

NCBI Reference Sequences

More...
RefSeqi
NP_056101.5, NM_015286.5
NP_663780.2, NM_145728.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.207106

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336292; ENSP00000336775; ENSG00000182253

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23336

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23336

UCSC genome browser

More...
UCSCi
uc032crv.2 human [O15061-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ310521 mRNA Translation: CAC83858.1
AJ310522 mRNA Translation: CAC83859.1
AF359284 mRNA Translation: AAK57487.1
AJ697971 mRNA Translation: CAG27071.1
AB002351 mRNA Translation: BAA20810.2 Different initiation.
BC110066 mRNA Translation: AAI10067.1 Different initiation.
BC151243 mRNA Translation: AAI51244.1
CCDSiCCDS73786.1 [O15061-2]
CCDS73787.1 [O15061-1]
RefSeqiNP_056101.5, NM_015286.5
NP_663780.2, NM_145728.2
UniGeneiHs.207106

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6EWOX-ray2.30C/G426-434[»]
ProteinModelPortaliO15061
SMRiO15061
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116923, 21 interactors
IntActiO15061, 10 interactors
MINTiO15061
STRINGi9606.ENSP00000336775

PTM databases

iPTMnetiO15061
PhosphoSitePlusiO15061

Polymorphism and mutation databases

BioMutaiSYNM

Proteomic databases

EPDiO15061
jPOSTiO15061
MaxQBiO15061
PaxDbiO15061
PeptideAtlasiO15061
PRIDEiO15061
ProteomicsDBi48411
48412 [O15061-2]
48413 [O15061-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336292; ENSP00000336775; ENSG00000182253
GeneIDi23336
KEGGihsa:23336
UCSCiuc032crv.2 human [O15061-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23336
DisGeNETi23336
EuPathDBiHostDB:ENSG00000182253.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SYNM

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0172820
HGNCiHGNC:24466 SYNM
HPAiCAB017192
HPA040066
HPA044200
MIMi606087 gene
neXtProtiNX_O15061
PharmGKBiPA164726408

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH92 Eukaryota
ENOG4111GBF LUCA
HOGENOMiHOG000154476
HOVERGENiHBG008974
InParanoidiO15061
KOiK10376
OrthoDBi104920at2759
PhylomeDBiO15061

Miscellaneous databases

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

More...
ChiTaRSi
SYNM human

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

More...
GenomeRNAii
23336

Protein Ontology

More...
PROi
PR:O15061

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000182253 Expressed in 233 organ(s), highest expression level in cauda epididymis
CleanExiHS_SYNM
ExpressionAtlasiO15061 baseline and differential
GenevisibleiO15061 HS

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR030634 SYNM
PANTHERiPTHR23239 PTHR23239, 1 hit
PTHR23239:SF194 PTHR23239:SF194, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYNEM_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: O15061
Secondary accession number(s): A7E2Y2
, Q2TBJ4, Q5NJJ9, Q8TE61, Q8TE62
<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: January 23, 2002
Last sequence update: January 23, 2002
Last modified: January 16, 2019
This is version 151 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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