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Entry version 132 (08 May 2019)
Sequence version 2 (28 Nov 2006)
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Protein

Myotubularin-related protein 14

Gene

MTMR14

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

Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei330Phosphocysteine intermediateBy similarity1

<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>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 functionHydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS08920-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.1.3.64 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1632852 Macroautophagy
R-HSA-1660499 Synthesis of PIPs at the plasma membrane

<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:
Myotubularin-related protein 14 (EC:3.1.3.-)
Alternative name(s):
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
Short name:
NS5ATP4ABP1
hJumpy
<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:MTMR14
Synonyms:C3orf29
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26190 MTMR14

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611089 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NCE2

<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

Cytoplasm

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

<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

Myopathy, centronuclear, 1 (CNM1)1 Publication
The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356).1 Publication
Disease descriptionA congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
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_033370336R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121434509EnsemblClinVar.1
Natural variantiVAR_033371462Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121434510EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi330C → S: Drastically reduced enzymatic activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
64419

MalaCards human disease database

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MalaCardsi
MTMR14
MIMi160150 phenotype

Open Targets

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OpenTargetsi
ENSG00000163719

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

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Orphaneti
169189 Autosomal dominant centronuclear myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162396265

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MTMR14

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118568016

<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_00002602141 – 650Myotubularin-related protein 14Add BLAST650

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 residuei194N6-acetyllysineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi226N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei518PhosphoserineCombined sources1
Glycosylationi519N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei530PhosphoserineCombined sources1
Modified residuei580PhosphoserineCombined sources1
Modified residuei624PhosphoserineCombined sources1
Modified residuei638Omega-N-methylarginineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NCE2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NCE2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NCE2

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

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PaxDbi
Q8NCE2

PeptideAtlas

More...
PeptideAtlasi
Q8NCE2

PRoteomics IDEntifications database

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PRIDEi
Q8NCE2

ProteomicsDB human proteome resource

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ProteomicsDBi
72881
72882 [Q8NCE2-2]
72883 [Q8NCE2-3]

PTM databases

DEPOD human dephosphorylation database

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DEPODi
Q8NCE2

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NCE2

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

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PhosphoSitePlusi
Q8NCE2

<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 various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000163719 Expressed in 209 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NCE2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NCE2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054063

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122168, 51 interactors

Protein interaction database and analysis system

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IntActi
Q8NCE2, 9 interactors

Molecular INTeraction database

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MINTi
Q8NCE2

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296003

<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

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 biasi512 – 518Poly-Ser7

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHSK Eukaryota
ENOG410XSF4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018852

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NCE2

KEGG Orthology (KO)

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KOi
K18086

Identification of Orthologs from Complete Genome Data

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OMAi
YKGKHIC

Database of Orthologous Groups

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OrthoDBi
775284at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NCE2

TreeFam database of animal gene trees

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TreeFami
TF324044

Family and domain databases

Conserved Domains Database

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CDDi
cd13213 PH-GRAM_MTMR14, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039802 MTMR14
IPR039803 MTMR14_PH-GRAM
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS

The PANTHER Classification System

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PANTHERi
PTHR13524 PTHR13524, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52799 SSF52799, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NCE2-1) [UniParc]FASTAAdd to basket

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
MAGARAAAAA ASAGSSASSG NQPPQELGLG ELLEEFSRTQ YRAKDGSGTG
60 70 80 90 100
GSKVERIEKR CLELFGRDYC FSVIPNTNGD ICGHYPRHIV FLEYESSEKE
110 120 130 140 150
KDTFESTVQV SKLQDLIHRS KMARCRGRFV CPVILFKGKH ICRSATLAGW
160 170 180 190 200
GELYGRSGYN YFFSGGADDA WADVEDVTEE DCALRSGDTH LFDKVRGYDI
210 220 230 240 250
KLLRYLSVKY ICDLMVENKK VKFGMNVTSS EKVDKAQRYA DFTLLSIPYP
260 270 280 290 300
GCEFFKEYKD RDYMAEGLIF NWKQDYVDAP LSIPDFLTHS LNIDWSQYQC
310 320 330 340 350
WDLVQQTQNY LKLLLSLVNS DDDSGLLVHC ISGWDRTPLF ISLLRLSLWA
360 370 380 390 400
DGLIHTSLKP TEILYLTVAY DWFLFGHMLV DRLSKGEEIF FFCFNFLKHI
410 420 430 440 450
TSEEFSALKT QRRKSLPARD GGFTLEDICM LRRKDRGSTT SLGSDFSLVM
460 470 480 490 500
ESSPGATGSF TYEAVELVPA GAPTQAAWRK SHSSSPQSVL WNRPQPSEDR
510 520 530 540 550
LPSQQGLAEA RSSSSSSSNH SDNFFRMGSS PLEVPKPRSV DHPLPGSSLS
560 570 580 590 600
TDYGSWQMVT GCGSIQERAV LHTDSSLPFS FPDELPNSCL LAALSDRETR
610 620 630 640 650
LQEVRSAFLA AYSSTVGLRA VAPSPSGAIG GLLEQFARGV GLRSISSNAL
Length:650
Mass (Da):72,203
Last modified:November 28, 2006 - 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:iC1B70E5140EF0716
GO
Isoform 2 (identifier: Q8NCE2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-590: Missing.

Show »
Length:598
Mass (Da):66,654
Checksum:iFC7244F7B81672CC
GO
Isoform 3 (identifier: Q8NCE2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     479-538: Missing.
     539-590: Missing.

Show »
Length:538
Mass (Da):60,035
Checksum:i6EA5D5AC9EE34FB0
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
C9JR61C9JR61_HUMAN
Myotubularin-related protein 14
MTMR14
154Annotation 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>
C9JSR1C9JSR1_HUMAN
Myotubularin-related protein 14
MTMR14
292Annotation 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>
F8WEA3F8WEA3_HUMAN
Myotubularin-related protein 14
MTMR14
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>
B4DQK9B4DQK9_HUMAN
Myotubularin-related protein 14
MTMR14
187Annotation 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>
B4DJ23B4DJ23_HUMAN
Myotubularin-related protein 14
MTMR14
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCC0F8WCC0_HUMAN
Myotubularin-related protein 14
MTMR14
158Annotation 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>
F8WCG0F8WCG0_HUMAN
Myotubularin-related protein 14
MTMR14
60Annotation 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>
F8WBT3F8WBT3_HUMAN
Myotubularin-related protein 14
MTMR14
36Annotation 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 BAB15340 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 conflicti28G → R in CAL38187 (PubMed:17974005).Curated1
Sequence conflicti55E → G in CAL37928 (PubMed:17974005).Curated1
Sequence conflicti126R → G in CAL38187 (PubMed:17974005).Curated1
Sequence conflicti390F → S in BAC11211 (PubMed:14702039).Curated1
Sequence conflicti403 – 406EEFS → ALFA in AAS50151 (Ref. 5) Curated4
Sequence conflicti554 – 557GSWQ → AAGM in AAS50151 (Ref. 5) Curated4
Sequence conflicti646S → N in CAL37928 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033370336R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121434509EnsemblClinVar.1
Natural variantiVAR_033371462Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121434510EnsemblClinVar.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_021585479 – 538Missing in isoform 3. 3 PublicationsAdd BLAST60
Alternative sequenceiVSP_021586539 – 590Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
DQ630520 mRNA Translation: ABG02221.1
AK026058 mRNA Translation: BAB15340.1 Different initiation.
AK074792 mRNA Translation: BAC11211.1
AL713695 mRNA Translation: CAD28494.1
AM393309 mRNA Translation: CAL38187.1
AM393050 mRNA Translation: CAL37928.1
BC001674 mRNA Translation: AAH01674.2
BC025952 mRNA Translation: AAH25952.2
BC035690 mRNA Translation: AAH35690.1
BC050626 mRNA Translation: AAH50626.1
AY545552 mRNA Translation: AAS50151.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43043.1 [Q8NCE2-1]
CCDS43044.1 [Q8NCE2-2]
CCDS43045.1 [Q8NCE2-3]

NCBI Reference Sequences

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RefSeqi
NP_001070993.1, NM_001077525.2 [Q8NCE2-1]
NP_001070994.1, NM_001077526.2 [Q8NCE2-2]
NP_071930.2, NM_022485.4 [Q8NCE2-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000296003; ENSP00000296003; ENSG00000163719 [Q8NCE2-1]
ENST00000351233; ENSP00000334070; ENSG00000163719 [Q8NCE2-3]
ENST00000353332; ENSP00000323462; ENSG00000163719 [Q8NCE2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64419

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64419

UCSC genome browser

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UCSCi
uc003brz.4 human [Q8NCE2-1]

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
DQ630520 mRNA Translation: ABG02221.1
AK026058 mRNA Translation: BAB15340.1 Different initiation.
AK074792 mRNA Translation: BAC11211.1
AL713695 mRNA Translation: CAD28494.1
AM393309 mRNA Translation: CAL38187.1
AM393050 mRNA Translation: CAL37928.1
BC001674 mRNA Translation: AAH01674.2
BC025952 mRNA Translation: AAH25952.2
BC035690 mRNA Translation: AAH35690.1
BC050626 mRNA Translation: AAH50626.1
AY545552 mRNA Translation: AAS50151.1
CCDSiCCDS43043.1 [Q8NCE2-1]
CCDS43044.1 [Q8NCE2-2]
CCDS43045.1 [Q8NCE2-3]
RefSeqiNP_001070993.1, NM_001077525.2 [Q8NCE2-1]
NP_001070994.1, NM_001077526.2 [Q8NCE2-2]
NP_071930.2, NM_022485.4 [Q8NCE2-3]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi122168, 51 interactors
IntActiQ8NCE2, 9 interactors
MINTiQ8NCE2
STRINGi9606.ENSP00000296003

PTM databases

DEPODiQ8NCE2
iPTMnetiQ8NCE2
PhosphoSitePlusiQ8NCE2

Polymorphism and mutation databases

BioMutaiMTMR14
DMDMi118568016

Proteomic databases

EPDiQ8NCE2
jPOSTiQ8NCE2
MaxQBiQ8NCE2
PaxDbiQ8NCE2
PeptideAtlasiQ8NCE2
PRIDEiQ8NCE2
ProteomicsDBi72881
72882 [Q8NCE2-2]
72883 [Q8NCE2-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
64419
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296003; ENSP00000296003; ENSG00000163719 [Q8NCE2-1]
ENST00000351233; ENSP00000334070; ENSG00000163719 [Q8NCE2-3]
ENST00000353332; ENSP00000323462; ENSG00000163719 [Q8NCE2-2]
GeneIDi64419
KEGGihsa:64419
UCSCiuc003brz.4 human [Q8NCE2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64419
DisGeNETi64419

GeneCards: human genes, protein and diseases

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GeneCardsi
MTMR14
HGNCiHGNC:26190 MTMR14
HPAiHPA054063
MalaCardsiMTMR14
MIMi160150 phenotype
611089 gene
neXtProtiNX_Q8NCE2
OpenTargetsiENSG00000163719
Orphaneti169189 Autosomal dominant centronuclear myopathy
PharmGKBiPA162396265

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHSK Eukaryota
ENOG410XSF4 LUCA
GeneTreeiENSGT00390000018852
InParanoidiQ8NCE2
KOiK18086
OMAiYKGKHIC
OrthoDBi775284at2759
PhylomeDBiQ8NCE2
TreeFamiTF324044

Enzyme and pathway databases

BioCyciMetaCyc:HS08920-MONOMER
BRENDAi3.1.3.64 2681
ReactomeiR-HSA-1632852 Macroautophagy
R-HSA-1660499 Synthesis of PIPs at the plasma membrane

Miscellaneous databases

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

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ChiTaRSi
MTMR14 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MTMR14

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

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GenomeRNAii
64419

Protein Ontology

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PROi
PR:Q8NCE2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163719 Expressed in 209 organ(s), highest expression level in blood
ExpressionAtlasiQ8NCE2 baseline and differential
GenevisibleiQ8NCE2 HS

Family and domain databases

CDDicd13213 PH-GRAM_MTMR14, 1 hit
InterProiView protein in InterPro
IPR039802 MTMR14
IPR039803 MTMR14_PH-GRAM
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
PANTHERiPTHR13524 PTHR13524, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiMTMRE_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: Q8NCE2
Secondary accession number(s): Q0JTH5
, Q0JU83, Q6PIZ4, Q6QE21, Q86VK9, Q8IYK1, Q8TCM7, Q9H6C0
<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: November 28, 2006
Last sequence update: November 28, 2006
Last modified: May 8, 2019
This is version 132 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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