Property Summary

NCBI Gene PubMed Count 21
PubMed Score 24.73
PubTator Score 19.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis -2.000 5.2e-05
osteosarcoma -2.683 1.2e-07
ependymoma -1.200 1.0e-07
atypical teratoid / rhabdoid tumor -1.500 3.9e-05
glioblastoma -1.200 3.7e-03
medulloblastoma, large-cell -1.500 8.5e-04
intraductal papillary-mucinous adenoma (... 1.300 3.6e-03
adult high grade glioma -1.400 1.1e-03
group 3 medulloblastoma -1.200 1.4e-03

Gene RIF (7)

PMID Text
24817947 ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
23749797 Compound heterozygous mutations in SBF1 appear to be the underlying causes of a novel Charcot-Marie-Tooth disease type 4B subtype (designated as CMT4B3) in a Korean family.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19369647 Observational study of gene-disease association. (HuGE Navigator)
12668758 MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction.
9736772 SBF1 (MTMR5) belongs to the myotubularin family of phosphoinositides phosphatases-like

AA Sequence

MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVL      1 - 70
TDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLD     71 - 140
HTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCS    141 - 210
VALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLST    211 - 280
PTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAF    281 - 350
PPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVL    351 - 420
EGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQ    421 - 490
RPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSA    491 - 560
RRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNC    561 - 630
CLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLE    631 - 700
PTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLP    701 - 770
LDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTE    771 - 840
SGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGRE    841 - 910
EGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDG    911 - 980
LQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRT    981 - 1050
LSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSS   1051 - 1120
LVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQN   1121 - 1190
RFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASG   1191 - 1260
RNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILG   1261 - 1330
DKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKL   1331 - 1400
LQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAH   1401 - 1470
TLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEE   1471 - 1540
KGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWEL   1541 - 1610
AQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKA   1611 - 1680
AQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTL   1681 - 1750
YSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTP   1751 - 1820
TMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA                          1821 - 1867
//

Text Mined References (27)

PMID Year Title
24817947 2014 DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
24799518 2014 SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23749797 2013 SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20937701 2010 Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19369647 2009 Identification of potentially damaging amino acid substitutions leading to human male infertility.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12668758 2003 Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11994405 2002 Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1.
11686296 2001 Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties.
10848615 2000 Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9.
10591208 1999 The DNA sequence of human chromosome 22.
9736772 1998 Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
9537414 1998 Association of SET domain and myotubularin-related proteins modulates growth control.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.