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UniProtKB - O95248 (MTMR5_HUMAN)

Entry version 178 (13 Feb 2019)
Sequence version 4 (28 Mar 2018)
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Protein

Myotubularin-related protein 5

Gene

SBF1

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

Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).3 Publications

Caution

Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 1422 in the dsPTPase catalytic loop and does not have phosphatase activity (PubMed:9537414). The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases.Curated1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • phosphatase regulator activity Source: InterPro
  • protein tyrosine/serine/threonine phosphatase activity Source: UniProtKB
  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.3.16 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483248 Synthesis of PIPs at the ER 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_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 5
Alternative name(s):
Inactive phosphatidylinositol 3-phosphatase 5Curated
SET-binding factor 1
Short name:
Sbf1
<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:SBF1
Synonyms:MTMR5
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_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 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000100241.20

Human Gene Nomenclature Database

More...HGNCi		HGNC:10542 SBF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603560 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95248

<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

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

Charcot-Marie-Tooth disease 4B3 (CMT4B3)1 Publication
The disease is caused by mutations 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.
See also OMIM:615284
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_070046418M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl.1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		6305

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

More...GeneReviewsi		SBF1

MalaCards human disease database

More...MalaCardsi		SBF1
MIMi615284 phenotype

Open Targets

More...OpenTargetsi		ENSG00000100241

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

More...Orphaneti		363981 Charcot-Marie-Tooth disease type 4B3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34953

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SBF1

<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_00000949381 – 1868Myotubularin-related protein 5Add BLAST1868

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 residuei1121PhosphoserineCombined sources1
Modified residuei1138PhosphothreonineCombined sources1
Modified residuei1223N6-methyllysineCombined sources1
Modified residuei1747PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O95248

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95248

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95248

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

More...PaxDbi		O95248

PeptideAtlas

More...PeptideAtlasi		O95248

PRoteomics IDEntifications database

More...PRIDEi		O95248

ProteomicsDB human proteome resource

More...ProteomicsDBi		50743
50744 [O95248-4]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		O95248

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95248

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

More...PhosphoSitePlusi		O95248

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100241 Expressed in 214 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95248 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95248 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA074004

<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

Heterodimer with lipid phosphatase MTMR2 (PubMed:12668758). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with SUV39H1 (PubMed:10848615).3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112212, 50 interactors

Protein interaction database and analysis system

More...IntActi		O95248, 8 interactors

Molecular INTeraction database

More...MINTi		O95248

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370196

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O95248

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

More...SMRi		O95248

Database of comparative protein structure models

More...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>Domaini7 – 185uDENNPROSITE-ProRule annotationAdd BLAST179
Domaini204 – 337cDENNPROSITE-ProRule annotationAdd BLAST134
Domaini339 – 440dDENNPROSITE-ProRule annotationAdd BLAST102
Domaini881 – 969GRAMSequence analysisAdd BLAST89
Domaini1121 – 1597Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST477
Domaini1762 – 1866PHPROSITE-ProRule annotationAdd BLAST105

<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 interaction with MTMR2.1 Publication

<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 protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1090 Eukaryota
KOG2080 Eukaryota
ENOG410XTJ1 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155263

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG052527

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95248

KEGG Orthology (KO)

More...KOi		K18061

Identification of Orthologs from Complete Genome Data

More...OMAi		DQATAKM

Database of Orthologous Groups

More...OrthoDBi		45015at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95248

TreeFam database of animal gene trees

More...TreeFami		TF318583

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR004182 GRAM
IPR030574 MTMR5
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

More...PANTHERi		PTHR10807 PTHR10807, 1 hit
PTHR10807:SF43 PTHR10807:SF43, 1 hit

Pfam protein domain database

More...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

More...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

More...SUPFAMi		SSF52799 SSF52799, 1 hit

PROSITE; a protein domain and family database

More...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_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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O95248-1) [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
MARLADYFVL VAFGPHPRGS GEGQGQILQR FPEKDWEDNP FPQGIELFCQ 
        60         70         80         90        100
PSGWQLCPER NPPTFFVAVL TDINSERHYC ACLTFWEPAE PSQQETTRVE 
       110        120        130        140        150
DATEREEEGD EGGQTHLSPT APAPSAQLFA PKTLVLVSRL DHTEVFRNSL 
       160        170        180        190        200
GLIYAIHVEG LNVCLENVIG NLLTCTVPLA GGSQRTISLG AGDRQVIQTP 
       210        220        230        240        250
LADSLPVSRC SVALLFRQLG ITNVLSLFCA ALTEHKVLFL SRSYQRLADA 
       260        270        280        290        300
CRGLLALLFP LRYSFTYVPI LPAQLLEVLS TPTPFIIGVN AAFQAETQEL 
       310        320        330        340        350
LDVIVADLDG GTVTIPECVH IPPLPEPLQS QTHSVLSMVL DPELELADLA 
       360        370        380        390        400
FPPPTTSTSS LKMQDKELRA VFLRLFAQLL QGYRWCLHVV RIHPEPVIRF 
       410        420        430        440        450
HKAAFLGQRG LVEDDFLMKV LEGMAFAGFV SERGVPYRPT DLFDELVAHE 
       460        470        480        490        500
VARMRADENH PQRVLRHVQE LAEQLYKNEN PYPAVAMHKV QRPGESSHLR 
       510        520        530        540        550
RVPRPFPRLD EGTVQWIVDQ AAAKMQGAPP AVKAERRTTV PSGPPMTAIL 
       560        570        580        590        600
ERCSGLHVNS ARRLEVVRNC ISYVFEGKML EAKKLLPAVL RALKGRAARR 
       610        620        630        640        650
CLAQELHLHV QQNRAVLDHQ QFDFVVRMMN CCLQDCTSLD EHGIAAALLP 
       660        670        680        690        700
LVTAFCRKLS PGVTQFAYSC VQEHVVWSTP QFWEAMFYGD VQTHIRALYL 
       710        720        730        740        750
EPTEDLAPAQ EVGEAPSQED ERSALDVASE QRRLWPTLSR EKQQELVQKE 
       760        770        780        790        800
ESTVFSQAIH YANRMSYLLL PLDSSKSRLL RERAGLGDLE SASNSLVTNS 
       810        820        830        840        850
MAGSVAESYD TESGFEDAET CDVAGAVVRF INRFVDKVCT ESGVTSDHLK 
       860        870        880        890        900
GLHVMVPDIV QMHIETLEAV QRESRRLPPI QKPKLLRPRL LPGEECVLDG 
       910        920        930        940        950
LRVYLLPDGR EEGAGGSAGG PALLPAEGAV FLTTYRVIFT GMPTDPLVGE 
       960        970        980        990       1000
QVVVRSFPVA ALTKEKRISV QTPVDQLLQD GLQLRSCTFQ LLKMAFDEEV 
      1010       1020       1030       1040       1050
GSDSAELFRK QLHKLRYPPD IRATFAFTLG SAHTPGRPPR VTKDKGPSLR 
      1060       1070       1080       1090       1100
TLSRNLVKNA KKTIGRQHVT RKKYNPPSWE HRGQPPPEDQ EDEISVSEEL 
      1110       1120       1130       1140       1150
EPSTLTPSSA LKPSDRMTMS SLVERACCRD YQRLGLGTLS SSLSRAKSEP 
      1160       1170       1180       1190       1200
FRISPVNRMY AICRSYPGLL IVPQSVQDNA LQRVSRCYRQ NRFPVVCWRS 
      1210       1220       1230       1240       1250
GRSKAVLLRS GGLHGKGVVG LFKAQNAPSP GQSQADSSSL EQEKYLQAVV 
      1260       1270       1280       1290       1300
SSMPRYADAS GRNTLSGFSS AHMGSHGKWG SVRTSGRSSG LGTDVGSRLA 
      1310       1320       1330       1340       1350
GRDALAPPQA NGGPPDPGFL RPQRAALYIL GDKAQLKGVR SDPLQQWELV 
      1360       1370       1380       1390       1400
PIEVFEARQV KASFKKLLKA CVPGCPAAEP SPASFLRSLE DSEWLIQIHK 
      1410       1420       1430       1440       1450
LLQVSVLVVE LLDSGSSVLV GLEDGWDITT QVVSLVQLLS DPFYRTLEGF 
      1460       1470       1480       1490       1500
RLLVEKEWLS FGHRFSHRGA HTLAGQSSGF TPVFLQFLDC VHQVHLQFPM 
      1510       1520       1530       1540       1550
EFEFSQFYLK FLGYHHVSRR FRTFLLDSDY ERIELGLLYE EKGERRGQVP 
      1560       1570       1580       1590       1600
CRSVWEYVDR LSKRTPVFHN YMYAPEDAEV LRPYSNVSNL KVWDFYTEET 
      1610       1620       1630       1640       1650
LAEGPPYDWE LAQGPPEPPE EERSDGGAPQ SRRRVVWPCY DSCPRAQPDA 
      1660       1670       1680       1690       1700
ISRLLEELQR LETELGQPAE RWKDTWDRVK AAQRLEGRPD GRGTPSSLLV 
      1710       1720       1730       1740       1750
STAPHHRRSL GVYLQEGPVG STLSLSLDSD QSSGSTTSGS RQAARRSTST 
      1760       1770       1780       1790       1800
LYSQFQTAES ENRSYEGTLY KKGAFMKPWK ARWFVLDKTK HQLRYYDHRV 
      1810       1820       1830       1840       1850
DTECKGVIDL AEVEAVAPGT PTMGAPKTVD EKAFFDVKTT RRVYNFCAQD 
      1860 
VPSAQQWVDR IQSCLSDA
Length:1,868
Mass (Da):208,443
Last modified:March 28, 2018 - v4
<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:iE2C80DF9FB94AF1C
GO
Isoform 4 (identifier: O95248-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1276-1276: H → HVPSPRARVTTLSNPMAASASRRTAPR

Note: No experimental confirmation available.
Show »
Length:1,894
Mass (Da):211,176
Checksum:iEDDBDFD36B60722E
GO
Isoform 5 (identifier: O95248-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-93: Missing.
     1276-1276: H → HVPSPRARVTTLSNPMAASASRRTAPR

Show »
Length:1,893
Mass (Da):211,048
Checksum:i36865405984F1AFA
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y5W8H0Y5W8_HUMAN
Myotubularin-related protein 5
SBF1
415Annotation 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 AAC39675 differs from that shown. Reason: Frameshift at positions 1604, 1628, 1632 and 1865.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 conflicti597A → V in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1173P → R in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1377A → P in AAC78842 (PubMed:9736772).Curated1
Sequence conflicti1557Y → H in AAC78842 (PubMed:9736772).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070046418M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl.1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl.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_05942793Missing in isoform 5. 2 Publications1
Alternative sequenceiVSP_0151581276H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4 and isoform 5. 2 Publications1

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
AL096767 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73536.1
CH471138 Genomic DNA Translation: EAW73538.1
CH471138 Genomic DNA Translation: EAW73539.1
BC009268 mRNA Translation: AAH09268.2
BC087612 mRNA Translation: AAH87612.1
U93181 mRNA Translation: AAC39675.1 Frameshift.
AF072929 mRNA Translation: AAC78842.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14091.2 [O95248-5]

NCBI Reference Sequences

More...RefSeqi		NP_002963.2, NM_002972.3 [O95248-5]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.589924

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1]
ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6305

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6305

UCSC genome browser

More...UCSCi		uc003blh.5 human [O95248-1]
uc062flz.1 human

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL096767 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73536.1
CH471138 Genomic DNA Translation: EAW73538.1
CH471138 Genomic DNA Translation: EAW73539.1
BC009268 mRNA Translation: AAH09268.2
BC087612 mRNA Translation: AAH87612.1
U93181 mRNA Translation: AAC39675.1 Frameshift.
AF072929 mRNA Translation: AAC78842.1
CCDSiCCDS14091.2 [O95248-5]
RefSeqiNP_002963.2, NM_002972.3 [O95248-5]
UniGeneiHs.589924

3D structure databases

ProteinModelPortaliO95248
SMRiO95248
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112212, 50 interactors
IntActiO95248, 8 interactors
MINTiO95248
STRINGi9606.ENSP00000370196

PTM databases

DEPODiO95248
iPTMnetiO95248
PhosphoSitePlusiO95248

Polymorphism and mutation databases

BioMutaiSBF1

Proteomic databases

EPDiO95248
jPOSTiO95248
MaxQBiO95248
PaxDbiO95248
PeptideAtlasiO95248
PRIDEiO95248
ProteomicsDBi50743
50744 [O95248-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6305
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1]
ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5]
GeneIDi6305
KEGGihsa:6305
UCSCiuc003blh.5 human [O95248-1]
uc062flz.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6305
DisGeNETi6305
EuPathDBiHostDB:ENSG00000100241.20

GeneCards: human genes, protein and diseases

More...GeneCardsi		SBF1
GeneReviewsiSBF1
HGNCiHGNC:10542 SBF1
HPAiHPA074004
MalaCardsiSBF1
MIMi603560 gene
615284 phenotype
neXtProtiNX_O95248
OpenTargetsiENSG00000100241
Orphaneti363981 Charcot-Marie-Tooth disease type 4B3
PharmGKBiPA34953

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1090 Eukaryota
KOG2080 Eukaryota
ENOG410XTJ1 LUCA
GeneTreeiENSGT00940000155263
HOVERGENiHBG052527
InParanoidiO95248
KOiK18061
OMAiDQATAKM
OrthoDBi45015at2759
PhylomeDBiO95248
TreeFamiTF318583

Enzyme and pathway databases

BRENDAi3.1.3.16 2681
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

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

More...ChiTaRSi		SBF1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SBF1

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

More...GenomeRNAii		6305

Protein Ontology

More...PROi		PR:O95248

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100241 Expressed in 214 organ(s), highest expression level in testis
ExpressionAtlasiO95248 baseline and differential
GenevisibleiO95248 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR004182 GRAM
IPR030574 MTMR5
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:SF43 PTHR10807:SF43, 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...

<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 nameiMTMR5_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: O95248
Secondary accession number(s): A0A024R4Z9
, A6PVG9, G5E933, O60228, Q5JXD8, Q5PPM2, Q96GR9, Q9UGB8
<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: December 1, 2000
Last sequence update: March 28, 2018
Last modified: February 13, 2019
This is version 178 of the entry and version 4 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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