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SBF1 SET binding factor 1 [ Homo sapiens (human) ]

Gene ID: 6305, updated on 5-Nov-2017
Official Symbol
SBF1provided by HGNC
Official Full Name
SET binding factor 1provided by HGNC
Primary source
HGNC:HGNC:10542
See related
Ensembl:ENSG00000100241 MIM:603560; Vega:OTTHUMG00000150204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTMR5; CMT4B3; DENND7A
Summary
This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Orthologs
Location:
22q13.33
Exon count:
42
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (50445000..50475071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50883429..50913467, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6 regulatory subunit 2 Neighboring gene RNA, 7SL, cytoplasmic 500, pseudogene Neighboring gene vegetative cell wall protein gp1-like Neighboring gene adrenomedullin 2 Neighboring gene myo-inositol oxygenase Neighboring gene lipase maturation factor 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC99700, DKFZp761D0422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
phosphatase regulator activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine/serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myotubularin-related protein 5
Names
DENN/MADD domain containing 7A

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.

Genomic

  1. NG_041810.1 RefSeqGene

    Range
    5001..35072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002972.3NP_002963.2  myotubularin-related protein 5

    See identical proteins and their annotated locations for NP_002963.2

    Status: REVIEWED

    Source sequence(s)
    AL096767, BC087612, BM975530, HY035781, HY036155
    Consensus CDS
    CCDS14091.2
    UniProtKB/Swiss-Prot
    O95248
    UniProtKB/TrEMBL
    A0A024R4Z9
    Related
    ENSP00000370196.2, OTTHUMP00000196597, ENST00000380817.7, OTTHUMT00000316819
    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: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

    Range
    50445000..50475071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261935.2XP_005261992.1  myotubularin-related protein 5 isoform X4

    See identical proteins and their annotated locations for XP_005261992.1

    UniProtKB/Swiss-Prot
    O95248
    Related
    ENSP00000252027.7, OTTHUMP00000196599, ENST00000348911.10, OTTHUMT00000316821
    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. XM_011530709.2XP_011529011.1  myotubularin-related protein 5 isoform X1

    Conserved Domains (8) summary
    smart00801
    Location:374442
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:139320
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    cd01235
    Location:17961901
    PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
    cd13340
    Location:9031021
    PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam00169
    Location:18001901
    PH; PH domain
    pfam03456
    Location:3692
    uDENN; uDENN domain
    pfam06602
    Location:11381566
    Myotub-related; Myotubularin-like phosphatase domain
    pfam12335
    Location:553774
    SBF2; Myotubularin protein
  3. XM_011530710.2XP_011529012.1  myotubularin-related protein 5 isoform X2

    Conserved Domains (8) summary
    smart00801
    Location:373441
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:138319
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    cd01235
    Location:17951900
    PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
    cd13340
    Location:9021020
    PH-GRAM_MTMR5; Myotubularian (MTM) related 5 protein (MTMR5) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam00169
    Location:17991900
    PH; PH domain
    pfam03456
    Location:3692
    uDENN; uDENN domain
    pfam06602
    Location:11371565
    Myotub-related; Myotubularin-like phosphatase domain
    pfam12335
    Location:552773
    SBF2; Myotubularin protein
  4. XM_017028905.1XP_016884394.1  myotubularin-related protein 5 isoform X3

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    50842172..50872238 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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