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Entry version 156 (10 Feb 2021)
Sequence version 1 (01 Jun 2003)
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Protein

Myotubularin-related protein 13

Gene

SBF2

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

Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity).By similarity2 Publications

Caution

Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 1410 in the dsPTPase catalytic loop, suggesting that it has no phosphatase activity.Curated

<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

  • autophagy Source: UniProtKB-KW
  • myelination Source: UniProtKB
  • regulation of GTPase activity Source: InterPro

<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 functionGuanine-nucleotide releasing factor
Biological processAutophagy

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q86WG5

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660499, Synthesis of PIPs at the plasma membrane
R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs

<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:
Myotubularin-related protein 13Curated
Alternative name(s):
Inactive phosphatidylinositol 3-phosphatase 13Curated
SET-binding factor 21 Publication
<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:SBF2
Synonyms:CMT4B2, KIAA1766, MTMR13
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 11

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2135, SBF2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607697, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q86WG5

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000133812.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Endosome, 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

Charcot-Marie-Tooth disease 4B2 (CMT4B2)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Related information in OMIM

Keywords - Diseasei

Charcot-Marie-Tooth disease, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
81846

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SBF2

MalaCards human disease database

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MalaCardsi
SBF2
MIMi604563, phenotype

Open Targets

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OpenTargetsi
ENSG00000133812

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

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Orphaneti
99956, Charcot-Marie-Tooth disease type 4B2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26649

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q86WG5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SBF2

Domain mapping of disease mutations (DMDM)

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DMDMi
74750502

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000949451 – 1849Myotubularin-related protein 13Add BLAST1849

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 residuei1127PhosphoserineCombined sources1
Modified residuei1279PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q86WG5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86WG5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q86WG5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q86WG5

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

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PaxDbi
Q86WG5

PeptideAtlas

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PeptideAtlasi
Q86WG5

PRoteomics IDEntifications database

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PRIDEi
Q86WG5

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
70158 [Q86WG5-1]
70159 [Q86WG5-3]

PTM databases

DEPOD human dephosphorylation database

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DEPODi
SBF2

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q86WG5

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

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PhosphoSitePlusi
Q86WG5

<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

Widely expressed. Expressed in spinal cord.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000133812, Expressed in epithelial cell of pancreas and 208 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q86WG5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q86WG5, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000133812, 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

Homodimer (By similarity). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer (PubMed:15998640).

Interacts with class II PI3-kinase PIK3C2A (By similarity).

Interacts (via DENN domain) with RAB21 (in GDP-bound form) in response to starvation; the interaction activates RAB21 (PubMed:25648148).

Interacts with VAMP8 in response to starvation (PubMed:25648148).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123597, 33 interactors

Protein interaction database and analysis system

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IntActi
Q86WG5, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000256190

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q86WG5, protein

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

3D structure databases

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

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SMRi
Q86WG5

Database of comparative protein structure models

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ModBasei
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%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 172uDENNPROSITE-ProRule annotationAdd BLAST166
Domaini191 – 324cDENNPROSITE-ProRule annotationAdd BLAST134
Domaini326 – 427dDENNPROSITE-ProRule annotationAdd BLAST102
Domaini871 – 957GRAMSequence analysisAdd BLAST87
Domaini1108 – 1584Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST477
Domaini1743 – 1847PHPROSITE-ProRule annotationAdd BLAST105

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>Regioni1629 – 1682Required for homodimerization and interaction with MTMR2By similarity1 PublicationAdd BLAST54

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal domain mediates homodimerization (By similarity). By mediating SBF2/MTMR13 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization (By similarity).By similarity
The GRAM domain mediates binding to phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3,4,5-trisphosphate.By similarity
The PH domain binds preferentially phosphatidylinositol 3,4,5-trisphosphate (By similarity). Appears to be dispensable for localization to membranes (By similarity).By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1090, Eukaryota
KOG4471, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155385

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_002298_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86WG5

Identification of Orthologs from Complete Genome Data

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OMAi
PNAYVCL

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86WG5

TreeFam database of animal gene trees

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TreeFami
TF318583

Family and domain databases

Conserved Domains Database

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CDDi
cd13339, PH-GRAM_MTMR13, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit
3.40.50.11500, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001194, cDENN_dom
IPR005112, dDENN_dom
IPR043153, DENN_C
IPR004182, GRAM
IPR030567, MTMR13
IPR037823, MTMR13_PH-GRAM
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR029021, Prot-tyrosine_phosphatase-like
IPR022096, SBF1/SBF2
IPR037516, Tripartite_DENN
IPR005113, uDENN_dom

The PANTHER Classification System

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PANTHERi
PTHR10807, PTHR10807, 1 hit
PTHR10807:SF4, PTHR10807:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02141, DENN, 1 hit
PF02893, GRAM, 1 hit
PF06602, Myotub-related, 1 hit
PF00169, PH, 1 hit
PF12335, SBF2, 1 hit
PF03456, uDENN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00801, dDENN, 1 hit
SM00799, DENN, 1 hit
SM00568, GRAM, 1 hit
SM00233, PH, 1 hit
SM00800, uDENN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52799, SSF52799, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50211, DENN, 1 hit
PS50003, PH_DOMAIN, 1 hit
PS51339, PPASE_MYOTUBULARIN, 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.

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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86WG5-1) [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
MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ
60 70 80 90 100
PGGWQLSRER KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI
110 120 130 140 150
EGEAKVSGLI QPAEVFAPKS LVLVSRLYYP EIFRACLGLI YTVYVDSLNV
160 170 180 190 200
SLESLIANLC ACLVPAAGGS QKLFSLGAGD RQLIQTPLHD SLPITGTSVA
210 220 230 240 250
LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA LESLMFPLKY
260 270 280 290 300
SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI
310 320 330 340 350
KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM
360 370 380 390 400
LDKEVRAVFL RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE
410 420 430 440 450
NDFLTKVLSG MAFAGFVSER GPPYRSCDLF DELVAFEVER IKVEENNPVK
460 470 480 490 500
MIKHVRELAE QLFKNENPNP HMAFQKVPRP TEGSHLRVHI LPFPEINEAR
510 520 530 540 550
VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV TTVFNSAQRL
560 570 580 590 600
EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR
610 620 630 640 650
AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS
660 670 680 690 700
QFAYTCVQDH PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK
710 720 730 740 750
DKLPDDHYQE KTAMDLAAEQ LRLWPTLSKS TQQELVQHEE STVFSQAIHF
760 770 780 790 800
ANLMVNLLVP LDTSKNKLLR TSAPGDWESG SNSIVTNSIA GSVAESYDTE
810 820 830 840 850
SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL HCMIPGIVAM
860 870 880 890 900
HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE
910 920 930 940 950
ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI
960 970 980 990 1000
TKEKKITMQN QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL
1010 1020 1030 1040 1050
MKFRYPQSIF STFAFAAGQT TPQIILPKQK EKNTSFRTFS KTIVKGAKRA
1060 1070 1080 1090 1100
GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE DDDVSVSDES ELPTSTTLKA
1110 1120 1130 1140 1150
SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI TASNRMYSLC
1160 1170 1180 1190 1200
RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF
1210 1220 1230 1240 1250
HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG
1260 1270 1280 1290 1300
NSTLTVRPAF ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS
1310 1320 1330 1340 1350
NSSYLQNQLL KRQAALYIFG EKSQLRNFKV EFALNCEFVP VEFHEIRQVK
1360 1370 1380 1390 1400
ASFKKLMRAC IPSTIPTDSE VTFLKALGDS EWFPQLHRIM QLAVVVSEVL
1410 1420 1430 1440 1450
ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM LVEKEWLSFG
1460 1470 1480 1490 1500
HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL
1510 1520 1530 1540 1550
AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK
1560 1570 1580 1590 1600
RSPIFFNYLY SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT
1610 1620 1630 1640 1650
PKHFPSEDSD LAGEAGPRSQ RRTVWPCYDD VSCTQPDALT SLFSEIEKLE
1660 1670 1680 1690 1700
HKLNQAPEKW QQLWERVTVD LKEEPRTDRS QRHLSRSPGI VSTNLPSYQK
1710 1720 1730 1740 1750
RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN DENRSFEGTL
1760 1770 1780 1790 1800
YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA
1810 1820 1830 1840
GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA
Length:1,849
Mass (Da):208,464
Last modified:June 1, 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:i9EDBA3E3AC05DD3E
GO
Isoform 3 (identifier: Q86WG5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1152-1152: S → R
     1153-1849: Missing.

Show »
Length:1,152
Mass (Da):129,344
Checksum:iAE52CCAFC9E5C70F
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDZ1H0YDZ1_HUMAN
Myotubularin-related protein 13
SBF2
132Annotation 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>
H0YD05H0YD05_HUMAN
Myotubularin-related protein 13
SBF2
331Annotation 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>
A0A6Q8PH13A0A6Q8PH13_HUMAN
Myotubularin-related protein 13
SBF2
1,874Annotation 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>
A0A6Q8PHP8A0A6Q8PHP8_HUMAN
Myotubularin-related protein 13
SBF2
1,868Annotation 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>
H0Y767H0Y767_HUMAN
Myotubularin-related protein 13
SBF2
396Annotation 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>
A0A6Q8PH87A0A6Q8PH87_HUMAN
Myotubularin-related protein 13
SBF2
1,267Annotation 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 conflicti1586E → G in CAH18167 (PubMed:17974005).Curated1
Sequence conflicti1665E → V in CAH18167 (PubMed:17974005).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_051766303P → L. Corresponds to variant dbSNP:rs16907355Ensembl.1
Natural variantiVAR_051767679E → K. Corresponds to variant dbSNP:rs7102464EnsemblClinVar.1
Natural variantiVAR_0517681216Q → E1 PublicationCorresponds to variant dbSNP:rs12574508EnsemblClinVar.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_0171571152S → R in isoform 3. 1 Publication1
Alternative sequenceiVSP_0171581153 – 1849Missing in isoform 3. 1 PublicationAdd BLAST697

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
AY234241 mRNA Translation: AAO62733.1
BC011143 mRNA Translation: AAH11143.1
BC043389 mRNA Translation: AAH43389.1
BC053867 mRNA Translation: AAH53867.1
BC063656 mRNA Translation: AAH63656.1
BC101466 mRNA Translation: AAI01467.1
AB051553 mRNA Translation: BAB21857.1
BX538184 mRNA Translation: CAD98056.1
CR749312 mRNA Translation: CAH18167.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31427.1 [Q86WG5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_112224.1, NM_030962.3 [Q86WG5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
81846

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:81846

UCSC genome browser

More...
UCSCi
uc001mib.2, human [Q86WG5-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY234241 mRNA Translation: AAO62733.1
BC011143 mRNA Translation: AAH11143.1
BC043389 mRNA Translation: AAH43389.1
BC053867 mRNA Translation: AAH53867.1
BC063656 mRNA Translation: AAH63656.1
BC101466 mRNA Translation: AAI01467.1
AB051553 mRNA Translation: BAB21857.1
BX538184 mRNA Translation: CAD98056.1
CR749312 mRNA Translation: CAH18167.1
CCDSiCCDS31427.1 [Q86WG5-1]
RefSeqiNP_112224.1, NM_030962.3 [Q86WG5-1]

3D structure databases

SMRiQ86WG5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123597, 33 interactors
IntActiQ86WG5, 11 interactors
STRINGi9606.ENSP00000256190

PTM databases

DEPODiSBF2
iPTMnetiQ86WG5
PhosphoSitePlusiQ86WG5

Genetic variation databases

BioMutaiSBF2
DMDMi74750502

Proteomic databases

EPDiQ86WG5
jPOSTiQ86WG5
MassIVEiQ86WG5
MaxQBiQ86WG5
PaxDbiQ86WG5
PeptideAtlasiQ86WG5
PRIDEiQ86WG5
ProteomicsDBi70158 [Q86WG5-1]
70159 [Q86WG5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24321, 36 antibodies

Genome annotation databases

EnsembliENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1]
GeneIDi81846
KEGGihsa:81846
UCSCiuc001mib.2, human [Q86WG5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
81846
DisGeNETi81846

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SBF2
GeneReviewsiSBF2
HGNCiHGNC:2135, SBF2
HPAiENSG00000133812, Low tissue specificity
MalaCardsiSBF2
MIMi604563, phenotype
607697, gene
neXtProtiNX_Q86WG5
OpenTargetsiENSG00000133812
Orphaneti99956, Charcot-Marie-Tooth disease type 4B2
PharmGKBiPA26649
VEuPathDBiHostDB:ENSG00000133812.14

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1090, Eukaryota
KOG4471, Eukaryota
GeneTreeiENSGT00940000155385
HOGENOMiCLU_002298_1_1_1
InParanoidiQ86WG5
OMAiPNAYVCL
PhylomeDBiQ86WG5
TreeFamiTF318583

Enzyme and pathway databases

PathwayCommonsiQ86WG5
ReactomeiR-HSA-1660499, Synthesis of PIPs at the plasma membrane
R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
81846, 2 hits in 874 CRISPR screens

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

More...
ChiTaRSi
SBF2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SBF2

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

More...
GenomeRNAii
81846
PharosiQ86WG5, Tbio

Protein Ontology

More...
PROi
PR:Q86WG5
RNActiQ86WG5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133812, Expressed in epithelial cell of pancreas and 208 other tissues
ExpressionAtlasiQ86WG5, baseline and differential
GenevisibleiQ86WG5, HS

Family and domain databases

CDDicd13339, PH-GRAM_MTMR13, 1 hit
Gene3Di2.30.29.30, 1 hit
3.40.50.11500, 1 hit
InterProiView protein in InterPro
IPR001194, cDENN_dom
IPR005112, dDENN_dom
IPR043153, DENN_C
IPR004182, GRAM
IPR030567, MTMR13
IPR037823, MTMR13_PH-GRAM
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR029021, Prot-tyrosine_phosphatase-like
IPR022096, SBF1/SBF2
IPR037516, Tripartite_DENN
IPR005113, uDENN_dom
PANTHERiPTHR10807, PTHR10807, 1 hit
PTHR10807:SF4, PTHR10807:SF4, 1 hit
PfamiView protein in Pfam
PF02141, DENN, 1 hit
PF02893, GRAM, 1 hit
PF06602, Myotub-related, 1 hit
PF00169, PH, 1 hit
PF12335, SBF2, 1 hit
PF03456, uDENN, 1 hit
SMARTiView protein in SMART
SM00801, dDENN, 1 hit
SM00799, DENN, 1 hit
SM00568, GRAM, 1 hit
SM00233, PH, 1 hit
SM00800, uDENN, 1 hit
SUPFAMiSSF52799, SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS50211, DENN, 1 hit
PS50003, PH_DOMAIN, 1 hit
PS51339, PPASE_MYOTUBULARIN, 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 nameiMTMRD_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: Q86WG5
Secondary accession number(s): Q3MJF0
, Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621, Q86VE2, Q96FE2, Q9C097
<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: February 7, 2006
Last sequence update: June 1, 2003
Last modified: February 10, 2021
This is version 156 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 variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with genetic variants
    List of human entries with genetic variants
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