LOCUS       NP_002963               1893 aa            linear   PRI 27-APR-2025
DEFINITION  myotubularin-related protein 5 isoform 1 [Homo sapiens].
ACCESSION   NP_002963 NP_932075 XP_037447
VERSION     NP_002963.2
DBSOURCE    REFSEQ: accession NM_002972.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1893)
  AUTHORS   Khamse,S., Alizadeh,S., Bernhart,S.H., Afshar,H., Delbari,A. and
            Ohadi,M.
  TITLE     A (GCC) repeat in SBF1 reveals a novel biological phenomenon in
            human and links to late onset neurocognitive disorder
  JOURNAL   Sci Rep 12 (1), 15480 (2022)
   PUBMED   36104480
  REMARK    GeneRIF: A (GCC) repeat in SBF1 reveals a novel biological
            phenomenon in human and links to late onset neurocognitive
            disorder.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1893)
  AUTHORS   Gang,Q., Bettencourt,C., Holton,J., Lovejoy,C., Chelban,V.,
            Oconnor,E., Yuan,Y., Reilly,M.M., Hanna,M. and Houlden,H.
  TITLE     A novel frameshift deletion in autosomal recessive SBF1-related
            syndromic neuropathy with necklace fibres
  JOURNAL   J Neurol 267 (9), 2705-2712 (2020)
   PUBMED   32444983
  REMARK    GeneRIF: A novel frameshift deletion in autosomal recessive
            SBF1-related syndromic neuropathy with necklace fibres.
REFERENCE   3  (residues 1 to 1893)
  AUTHORS   Flusser,H., Halperin,D., Kadir,R., Shorer,Z., Shelef,I. and
            Birk,O.S.
  TITLE     Novel SBF1 splice-site null mutation broadens the clinical spectrum
            of Charcot-Marie-Tooth type 4B3 disease
  JOURNAL   Clin Genet 94 (5), 473-479 (2018)
   PUBMED   30039846
  REMARK    GeneRIF: The novel SBF1 null mutation highlights distinct severe
            phenotypic manifestations, broadening the clinical spectrum of
            SBF1-related neuropathies: cerebellar and pyramidal signs evident
            in the first months of life with peripheral polyneuropathy emerging
            only toward the end of the first decade, together with unique MRI
            findings.
REFERENCE   4  (residues 1 to 1893)
  AUTHORS   Manole,A., Horga,A., Gamez,J., Raguer,N., Salvado,M., San
            Millan,B., Navarro,C., Pittmann,A., Reilly,M.M. and Houlden,H.
  TITLE     SBF1 mutations associated with autosomal recessive axonal
            neuropathy with cranial nerve involvement
  JOURNAL   Neurogenetics 18 (1), 63-67 (2017)
   PUBMED   28005197
  REMARK    GeneRIF: Novel sequence variants in SBF1 (c.1168C>G and
            c.2209_2210del) as the potential causative mutations in two
            siblings with severe axonal neuropathy, hearing loss, facial
            weakness and bulbar features.
REFERENCE   5  (residues 1 to 1893)
  AUTHORS   Zhu,M.H., Ji,S.L., Zhang,C.Y., Cui,L., Xiong,L. and Zheng,H.L.
  TITLE     DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for
            gemcitabine sensitivity in head and neck squamous cell carcinoma
            cell lines
  JOURNAL   Int J Clin Exp Pathol 7 (4), 1514-1523 (2014)
   PUBMED   24817947
  REMARK    GeneRIF: ZNF195 and SBF1 are potential biomarkers for gemcitabine
            sensitivity in head and neck squamous cell carcinoma cell lines.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1893)
  AUTHORS   Firestein,R. and Cleary,M.L.
  TITLE     Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain
            that modulates its growth regulatory properties
  JOURNAL   J Cell Sci 114 (Pt 16), 2921-2927 (2001)
   PUBMED   11686296
REFERENCE   7  (residues 1 to 1893)
  AUTHORS   Firestein,R., Cui,X., Huie,P. and Cleary,M.L.
  TITLE     Set domain-dependent regulation of transcriptional silencing and
            growth control by SUV39H1, a mammalian ortholog of Drosophila
            Su(var)3-9
  JOURNAL   Mol Cell Biol 20 (13), 4900-4909 (2000)
   PUBMED   10848615
REFERENCE   8  (residues 1 to 1893)
  AUTHORS   Laporte,J., Blondeau,F., Buj-Bello,A., Tentler,D., Kretz,C.,
            Dahl,N. and Mandel,J.L.
  TITLE     Characterization of the myotubularin dual specificity phosphatase
            gene family from yeast to human
  JOURNAL   Hum Mol Genet 7 (11), 1703-1712 (1998)
   PUBMED   9736772
  REMARK    GeneRIF: SBF1 (MTMR5) belongs to the myotubularin family of
            phosphoinositides phosphatases-like
REFERENCE   9  (residues 1 to 1893)
  AUTHORS   Cui,X., De Vivo,I., Slany,R., Miyamoto,A., Firestein,R. and
            Cleary,M.L.
  TITLE     Association of SET domain and myotubularin-related proteins
            modulates growth control
  JOURNAL   Nat Genet 18 (4), 331-337 (1998)
   PUBMED   9537414
REFERENCE   10 (residues 1 to 1893)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY035781.1, BC087612.1,
            AL096767.14 and BM975530.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Dec 30, 2014 this sequence version replaced
            NP_932075.1, NP_002963.1.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC087612.1, SRR14038194.2905869.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380817.8/ ENSP00000370196.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1893
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..1893
                     /product="myotubularin-related protein 5 isoform 1"
                     /note="myotubularin-related protein 5; DENN/MADD domain
                     containing 7A; inactive phosphatidylinositol 3-phosphatase
                     5"
                     /calculated_mol_wt=210918
     Region          1..86
                     /region_name="uDENN"
                     /note="Domain always found upstream of DENN domain, found
                     in a variety of signalling proteins; smart00800"
                     /db_xref="CDD:214824"
     Region          129..310
                     /region_name="DENN"
                     /note="Domain found in a variety of signalling proteins,
                     always encircled by uDENN and dDENN; smart00799"
                     /db_xref="CDD:214823"
     Region          364..432
                     /region_name="dDENN"
                     /note="Domain always found downstream of DENN domain,
                     found in a variety of signalling proteins; smart00801"
                     /db_xref="CDD:129037"
     Region          542..764
                     /region_name="SBF2"
                     /note="Myotubularin protein; pfam12335"
                     /db_xref="CDD:463536"
     Region          893..1011
                     /region_name="PH-like"
                     /note="Pleckstrin homology-like domain; cl17171"
                     /db_xref="CDD:473070"
     Region          1066..1115
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95248.4)"
     Site            1120
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95248.4)"
     Site            1137
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O95248.4)"
     Region          1150..1522
                     /region_name="PTP_DSP_cys"
                     /note="cys-based protein tyrosine phosphatase and
                     dual-specificity phosphatase superfamily; cl28904"
                     /db_xref="CDD:475123"
     Site            1222
                     /site_type="methylation"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (O95248.4)"
     Region          1631..1656
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95248.4)"
     Region          1748..1782
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95248.4)"
     Site            1772
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95248.4)"
     Region          1786..1891
                     /region_name="PH_Sbf1_hMTMR5"
                     /note="Set binding factor 1 (also called Human MTMR5)
                     Pleckstrin Homology (PH) domain; cd01235"
                     /db_xref="CDD:269941"
     CDS             1..1893
                     /gene="SBF1"
                     /gene_synonym="CMT4B3; DENND7A; MTMR5"
                     /coded_by="NM_002972.4:196..5877"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14091.2"
                     /db_xref="GeneID:6305"
                     /db_xref="HGNC:HGNC:10542"
                     /db_xref="MIM:603560"
ORIGIN      
        1 marladyfvl vafgphprgs gegqgqilqr fpekdwednp fpqgielfcq psgwqlcper
       61 npptffvavl tdinserhyc acltfwepae psqettrved atereeegde ggqthlspta
      121 papsaqlfap ktlvlvsrld htevfrnslg liyaihvegl nvclenvign lltctvplag
      181 gsqrtislga gdrqviqtpl adslpvsrcs vallfrqlgi tnvlslfcaa ltehkvlfls
      241 rsyqrladac rgllallfpl rysftyvpil paqllevlst ptpfiigvna afqaetqell
      301 dvivadldgg tvtipecvhi pplpeplqsq thsvlsmvld peleladlaf pppttstssl
      361 kmqdkelrav flrlfaqllq gyrwclhvvr ihpepvirfh kaaflgqrgl veddflmkvl
      421 egmafagfvs ergvpyrptd lfdelvahev armradenhp qrvlrhvqel aeqlyknenp
      481 ypavamhkvq rpgesshlrr vprpfprlde gtvqwivdqa aakmqgappa vkaerrttvp
      541 sgppmtaile rcsglhvnsa rrlevvrnci syvfegkmle akkllpavlr alkgraarrc
      601 laqelhlhvq qnravldhqq fdfvvrmmnc clqdctslde hgiaaallpl vtafcrklsp
      661 gvtqfayscv qehvvwstpq fweamfygdv qthiralyle ptedlapaqe vgeapsqede
      721 rsaldvaseq rrlwptlsre kqqelvqkee stvfsqaihy anrmsylllp ldssksrllr
      781 eraglgdles asnslvtnsm agsvaesydt esgfedaetc dvagavvrfi nrfvdkvcte
      841 sgvtsdhlkg lhvmvpdivq mhietleavq resrrlppiq kpkllrprll pgeecvldgl
      901 rvyllpdgre egaggsaggp allpaegavf lttyrviftg mptdplvgeq vvvrsfpvaa
      961 ltkekrisvq tpvdqllqdg lqlrsctfql lkmafdeevg sdsaelfrkq lhklryppdi
     1021 ratfaftlgs ahtpgrpprv tkdkgpslrt lsrnlvknak ktigrqhvtr kkynppsweh
     1081 rgqpppedqe deisvseele pstltpssal kpsdrmtmss lveraccrdy qrlglgtlss
     1141 slsraksepf rispvnrmya icrsypglli vpqsvqdnal qrvsrcyrqn rfpvvcwrsg
     1201 rskavllrsg glhgkgvvgl fkaqnapspg qsqadsssle qekylqavvs smpryadasg
     1261 rntlsgfssa hmgshvpspr arvttlsnpm aasasrrtap rgkwgsvrts grssglgtdv
     1321 gsrlagrdal appqanggpp dpgflrpqra alyilgdkaq lkgvrsdplq qwelvpievf
     1381 earqvkasfk kllkacvpgc paaepspasf lrsledsewl iqihkllqvs vlvvelldsg
     1441 ssvlvgledg wdittqvvsl vqllsdpfyr tlegfrllve kewlsfghrf shrgahtlag
     1501 qssgftpvfl qfldcvhqvh lqfpmefefs qfylkflgyh hvsrrfrtfl ldsdyeriel
     1561 gllyeekger rgqvpcrsvw eyvdrlskrt pvfhnymyap edaevlrpys nvsnlkvwdf
     1621 yteetlaegp pydwelaqgp peppeeersd ggapqsrrrv vwpcydscpr aqpdaisrll
     1681 eelqrletel gqpaerwkdt wdrvkaaqrl egrpdgrgtp ssllvstaph hrrslgvylq
     1741 egpvgstlsl sldsdqssgs ttsgsrqaar rststlysqf qtaesenrsy egtlykkgaf
     1801 mkpwkarwfv ldktkhqlry ydhrvdteck gvidlaevea vapgtptmga pktvdekaff
     1861 dvkttrrvyn fcaqdvpsaq qwvdriqscl sda
//
