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    Sbf1 SET binding factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 77980, updated on 23-Jun-2021

    Summary

    Official Symbol
    Sbf1provided by MGI
    Official Full Name
    SET binding factor 1provided by MGI
    Primary source
    MGI:MGI:1925230
    See related
    Ensembl:ENSMUSG00000036529
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mtmr; Mtmr5; mKIAA3020; 2610510A08Rik; B230113C15Rik
    Expression
    Ubiquitous expression in thymus adult (RPKM 86.7), spleen adult (RPKM 48.3) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Sbf1 in Genome Data Viewer
    Location:
    15; 15 E3
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (89171138..89199514, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (89288236..89315311, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 15 NC_000081.5 (89118667..89145742, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene plexin B2 Neighboring gene microRNA 7118 Neighboring gene DENN/MADD domain containing 6B Neighboring gene microRNA 6958 Neighboring gene protein phosphatase 6, regulatory subunit 2 Neighboring gene microRNA 6959 Neighboring gene adrenomedullin 2 Neighboring gene myo-inositol oxygenase

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC37151

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables pseudophosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of cell growth TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spermatid development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    myotubularin-related protein 5
    Names
    inactive phosphatidylinositol 3-phosphatase 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081030.2NP_001074499.2  myotubularin-related protein 5 isoform 2

      See identical proteins and their annotated locations for NP_001074499.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC160538
      Consensus CDS
      CCDS37175.2
      UniProtKB/Swiss-Prot
      Q6ZPE2
      Related
      ENSMUSP00000120725.2, ENSMUST00000123791.8
      Conserved Domains (8) summary
      smart00801
      Location:364432
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:129310
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17601865
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      pfam00169
      Location:17641865
      PH; PH domain
      pfam06602
      Location:11281530
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:543764
      SBF2; Myotubularin protein
      cl17171
      Location:8931011
      PH-like; Pleckstrin homology-like domain
    2. NM_001170561.1NP_001164032.1  myotubularin-related protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001164032.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC160538
      Consensus CDS
      CCDS49699.1
      UniProtKB/Swiss-Prot
      Q6ZPE2
      Related
      ENSMUSP00000118107.3, ENSMUST00000144585.9
      Conserved Domains (8) summary
      smart00801
      Location:364432
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:129310
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17861891
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      pfam00169
      Location:17901891
      PH; PH domain
      pfam06602
      Location:11281556
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:543764
      SBF2; Myotubularin protein
      cl17171
      Location:8931011
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      89171138..89199514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521539.3XP_006521602.1  myotubularin-related protein 5 isoform X2

      Conserved Domains (7) summary
      smart00801
      Location:372440
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:129318
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17681873
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      pfam12335
      Location:551772
      SBF2; Myotubularin protein
      cl17171
      Location:9011019
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:11581504
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    2. XM_006521538.3XP_006521601.1  myotubularin-related protein 5 isoform X1

      Conserved Domains (7) summary
      smart00801
      Location:372440
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:129318
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17941899
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      pfam12335
      Location:551772
      SBF2; Myotubularin protein
      cl17171
      Location:9011019
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:11581530
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    3. XM_030248818.2XP_030104678.1  myotubularin-related protein 5 isoform X3

      Conserved Domains (5) summary
      smart00801
      Location:2896
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:14501555
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      pfam12335
      Location:207428
      SBF2; Myotubularin protein
      cl17171
      Location:557675
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:8141186
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030019.1: Suppressed sequence

      Description
      NM_030019.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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