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    sbf1 SET binding factor 1 [ Danio rerio (zebrafish) ]

    Gene ID: 568277, updated on 9-Dec-2024

    Summary

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    Official Symbol
    sbf1provided by ZNC
    Official Full Name
    SET binding factor 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040718-139
    See related
    Ensembl:ENSDARG00000062968 AllianceGenome:ZFIN:ZDB-GENE-040718-139
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:92634; wu:fj45d12
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B3. Orthologous to human SBF1 (SET binding factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See sbf1 in Genome Data Viewer
    Location:
    chromosome: 4
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 4 NC_007115.7 (9911519..9999980)
    105 previous assembly GRCz10 (GCF_000002035.5) 4 NC_007115.6 (9910580..9999066)

    Chromosome 4 - NC_007115.7Genomic Context describing neighboring genes Neighboring gene adrenomedullin 2a Neighboring gene si:dkey-22l11.6 Neighboring gene transfer RNA tyrosine (anticodon GUA) Neighboring gene nuclear assembly factor 1 homolog (S. cerevisiae)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Hematopoietic gene expression profile in zebrafish kidney marrow. Song HD, et al. Proc Natl Acad Sci U S A, 2004 Nov 16. PMID 15520368, Free PMC Article
    2. 15000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Lo J, et al. Genome Res, 2003 Mar. PMID 12618376, Free PMC Article
    3. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 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_001045158.1 → NP_001038623.1  myotubularin-related protein 5

      Status: PROVISIONAL

      Source sequence(s)
      BX248111
      UniProtKB/TrEMBL
      A0A0R4IHD2, A0A8N7UYB0, Q1LXZ0
      Related
      ENSDARP00000099695.3, ENSDART00000109452.5
      Conserved Domains (8) summary
      smart00801
      Location:353 → 421
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1742 → 1847
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:880 → 997
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1747 → 1847
      PH; PH domain
      pfam02141
      Location:117 → 299
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1113 → 1511
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:532 → 752
      SBF2; Myotubularin protein

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007115.7 Reference GRCz11 Primary Assembly

      Range
      9911519..9999980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009300170.4 → XP_009298445.1  myotubularin-related protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A2R8PWA9, A0A8M3AYP0
      Conserved Domains (8) summary
      smart00801
      Location:381 → 449
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1829 → 1934
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:910 → 1027
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1834 → 1934
      PH; PH domain
      pfam02141
      Location:117 → 327
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1143 → 1598
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:560 → 782
      SBF2; Myotubularin protein

    2. XM_009300172.4 → XP_009298447.1  myotubularin-related protein 5 isoform X4

      UniProtKB/TrEMBL
      A0A8M3B8V9
      Conserved Domains (8) summary
      smart00801
      Location:381 → 449
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1804 → 1909
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:910 → 1027
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1809 → 1909
      PH; PH domain
      pfam02141
      Location:117 → 327
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1143 → 1573
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:560 → 782
      SBF2; Myotubularin protein

    3. XM_009300171.4 → XP_009298446.1  myotubularin-related protein 5 isoform X2

      UniProtKB/TrEMBL
      A0A8M3ARB7
      Conserved Domains (8) summary
      smart00801
      Location:371 → 439
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1819 → 1924
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:900 → 1017
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1824 → 1924
      PH; PH domain
      pfam02141
      Location:117 → 317
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1133 → 1588
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:550 → 772
      SBF2; Myotubularin protein

    4. XM_005164590.5 → XP_005164647.1  myotubularin-related protein 5 isoform X3

      UniProtKB/TrEMBL
      A0A8M2BBQ3
      Conserved Domains (8) summary
      smart00801
      Location:363 → 431
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1811 → 1916
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:892 → 1009
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1816 → 1916
      PH; PH domain
      pfam02141
      Location:117 → 309
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1125 → 1580
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:542 → 764
      SBF2; Myotubularin protein

    5. XM_068219729.1 → XP_068075830.1  myotubularin-related protein 5 isoform X6

      Related
      ENSDARP00000132256.2, ENSDART00000159762.2

    6. XM_005164591.5 → XP_005164648.1  myotubularin-related protein 5 isoform X5

      UniProtKB/TrEMBL
      A0A8M2BBZ8
      Conserved Domains (8) summary
      smart00801
      Location:353 → 421
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1801 → 1906
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:882 → 999
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1806 → 1906
      PH; PH domain
      pfam02141
      Location:117 → 299
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1115 → 1570
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:532 → 754
      SBF2; Myotubularin protein

    7. XM_009300173.4 → XP_009298448.1  myotubularin-related protein 5 isoform X7

      UniProtKB/TrEMBL
      A0A8M3ARJ8, F1QFF3
      Related
      ENSDARP00000086032.5, ENSDART00000091599.6
      Conserved Domains (8) summary
      smart00801
      Location:353 → 421
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1776 → 1881
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13340
      Location:882 → 999
      PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1781 → 1881
      PH; PH domain
      pfam02141
      Location:117 → 299
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1115 → 1545
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:532 → 754
      SBF2; Myotubularin protein

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395230.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      326950..415495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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