LOCUS       NP_035846                890 aa            linear   ROD 11-FEB-2025
DEFINITION  wolframin [Mus musculus].
ACCESSION   NP_035846
VERSION     NP_035846.1
DBSOURCE    REFSEQ: accession NM_011716.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 890)
  AUTHORS   Tulva,K., Pirajev,A., Zeb,A., Aksoy,A.E., Bello,A., Lee,B.,
            Guethjonsson,B.F., Helgadottir,S.B., Jagomae,T., Garcia-Llorca,A.,
            Eysteinsson,T., Jurgenson,M., Plaas,M., Vasar,E., Kaasik,A. and
            Hickey,M.A.
  TITLE     Early trigeminal and sensory impairment and lysosomal dysfunction
            in accurate models of Wolfram syndrome
  JOURNAL   Exp Neurol 385, 115099 (2025)
   PUBMED   39662795
REFERENCE   2  (residues 1 to 890)
  AUTHORS   Ahuja,K., Vandenabeele,M., Nami,F., Lefevere,E., Van Hoecke,J.,
            Bergmans,S., Claes,M., Vervliet,T., Neyrinck,K., Burg,T., De
            Herdt,D., Bhaskar,P., Zhu,Y., Looser,Z.J., Loncke,J., Gsell,W.,
            Plaas,M., Agostinis,P., Swinnen,J.V., Van Den Bosch,L.,
            Bultynck,G., Saab,A.S., Wolfs,E., Chai,Y.C., Himmelreich,U.,
            Verfaillie,C., Moons,L. and De Groef,L.
  TITLE     A deep phenotyping study in mouse and iPSC models to understand the
            role of oligodendroglia in optic neuropathy in Wolfram syndrome
  JOURNAL   Acta Neuropathol Commun 12 (1), 140 (2024)
   PUBMED   39198924
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 890)
  AUTHORS   Zhou,X., Xiao,Q., Liu,Y., Chen,S., Xu,X., Zhang,Z., Hong,Y.,
            Shao,J., Chen,Y., Chen,Y., Wang,L., Yang,F. and Tu,J.
  TITLE     Astrocyte-mediated regulation of BLAWFS1 neurons alleviates
            risk-assessment deficits in DISC1-N mice
  JOURNAL   Neuron 112 (13), 2197-2217 (2024)
   PUBMED   38642554
REFERENCE   4  (residues 1 to 890)
  AUTHORS   Zheng,Y., Zhao,C., Song,Q., Xu,L., Zhang,B., Hu,G., Kong,X., Li,S.,
            Li,X., Shen,Y., Zhuang,L., Wu,M., Liu,Y. and Zhou,Y.
  TITLE     Histone methylation mediated by NSD1 is required for the
            establishment and maintenance of neuronal identities
  JOURNAL   Cell Rep 42 (12), 113496 (2023)
   PUBMED   37995181
REFERENCE   5  (residues 1 to 890)
  AUTHORS   Zhang,B., Zhao,C., Shen,W., Li,W., Zheng,Y., Kong,X., Wang,J.,
            Wu,X., Zeng,T., Liu,Y. and Zhou,Y.
  TITLE     KDM2B regulates hippocampal morphogenesis by transcriptionally
            silencing Wnt signaling in neural progenitors
  JOURNAL   Nat Commun 14 (1), 6489 (2023)
   PUBMED   37838801
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 890)
  AUTHORS   Ishihara,H., Takeda,S., Tamura,A., Takahashi,R., Yamaguchi,S.,
            Takei,D., Yamada,T., Inoue,H., Soga,H., Katagiri,H., Tanizawa,Y.
            and Oka,Y.
  TITLE     Disruption of the WFS1 gene in mice causes progressive beta-cell
            loss and impaired stimulus-secretion coupling in insulin secretion
  JOURNAL   Hum Mol Genet 13 (11), 1159-1170 (2004)
   PUBMED   15056606
  REMARK    GeneRIF: The role of WFS1 in the etiology of Wolfram syndrome is
            examined in WFS1 mutant mice.
REFERENCE   7  (residues 1 to 890)
  AUTHORS   Cryns,K., Thys,S., Van Laer,L., Oka,Y., Pfister,M., Van Nassauw,L.,
            Smith,R.J., Timmermans,J.P. and Van Camp,G.
  TITLE     The WFS1 gene, responsible for low frequency sensorineural hearing
            loss and Wolfram syndrome, is expressed in a variety of inner ear
            cells
  JOURNAL   Histochem Cell Biol 119 (3), 247-256 (2003)
   PUBMED   12649740
  REMARK    GeneRIF: may play a role in inner ear ion homeostasis as maintained
            by the canalicular reticulum
REFERENCE   8  (residues 1 to 890)
  AUTHORS   Hurle,B., Lane,K., Kenney,J., Tarantino,L.M., Bucan,M.,
            Brownstein,B.H. and Ornitz,D.M.
  TITLE     Physical mapping of the mouse tilted locus identifies an
            association between human deafness loci DFNA6/14 and vestibular
            system development
  JOURNAL   Genomics 77 (3), 189-199 (2001)
   PUBMED   11597144
REFERENCE   9  (residues 1 to 890)
  AUTHORS   Strom,T.M., Hortnagel,K., Hofmann,S., Gekeler,F., Scharfe,C.,
            Rabl,W., Gerbitz,K.D. and Meitinger,T.
  TITLE     Diabetes insipidus, diabetes mellitus, optic atrophy and deafness
            (DIDMOAD) caused by mutations in a novel gene (wolframin) coding
            for a predicted transmembrane protein
  JOURNAL   Hum Mol Genet 7 (13), 2021-2028 (1998)
   PUBMED   9817917
REFERENCE   10 (residues 1 to 890)
  AUTHORS   Inoue,H., Tanizawa,Y., Wasson,J., Behn,P., Kalidas,K.,
            Bernal-Mizrachi,E., Mueckler,M., Marshall,H., Donis-Keller,H.,
            Crock,P., Rogers,D., Mikuni,M., Kumashiro,H., Higashi,K., Sobue,G.,
            Oka,Y. and Permutt,M.A.
  TITLE     A gene encoding a transmembrane protein is mutated in patients with
            diabetes mellitus and optic atrophy (Wolfram syndrome)
  JOURNAL   Nat Genet 20 (2), 143-148 (1998)
   PUBMED   9771706
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY063019.1, BY296480.1, AK144561.1, CX562372.1 and AC115722.12.
            
            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 :: BC046988.1, AF084482.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..890
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 19.46 cM"
     Protein         1..890
                     /product="wolframin"
                     /note="Wolfram syndrome 1 protein homolog; Wolfram
                     syndrome 1 homolog"
                     /calculated_mol_wt=100448
     Region          1..323
                     /region_name="Interaction with ATP6V1A.
                     /evidence=ECO:0000250|UniProtKB:O76024"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Region          1..83
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:O76024; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O76024; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Site            32
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Region          100..134
                     /region_name="WSLR"
                     /note="Wolframin Sel1-like repeat; pfam20023"
                     /db_xref="CDD:466262"
     Region          138..176
                     /region_name="WSLR"
                     /note="Wolframin Sel1-like repeat; pfam20023"
                     /db_xref="CDD:466262"
     Site            158
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Region          177..256
                     /region_name="WEF-hand"
                     /note="Wolframin EF-hand domain; pfam19914"
                     /db_xref="CDD:466231"
     Region          208..227
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            314..334
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            340..360
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            402..422
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            427..447
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            465..485
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            496..516
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            529..549
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            563..583
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            589..609
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            632..652
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     Site            663
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15522226; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Region          668..771
                     /region_name="WC-rich"
                     /note="Wolframin cysteine-rich domain; pfam20053"
                     /db_xref="CDD:466275"
     Site            748
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15522226; propagated from
                     UniProtKB/Swiss-Prot (P56695.1)"
     Region          772..876
                     /region_name="WCOB"
                     /note="Wolframin C-terminal OB-fold domain; pfam19913"
                     /db_xref="CDD:437745"
     Site            870..890
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P56695.1)"
     CDS             1..890
                     /gene="Wfs1"
                     /gene_synonym="wolframin"
                     /coded_by="NM_011716.2:123..2795"
                     /db_xref="CCDS:CCDS19245.1"
                     /db_xref="GeneID:22393"
                     /db_xref="MGI:MGI:1328355"
ORIGIN      
        1 mnsgtpppsp sgpppppapq pqararlnat asleqdkiep praprpqadp sagrsageaa
       61 apeprapqtg sreetdragp mkadveipfe evlekakagd pkaqtevgkh ylrlandade
      121 elnscsavaw lilaakqgrr eavkllrrcl adrkgitsen eaevkqlsse tdleravrka
      181 alvmywklnp kkkkqvavse llenvgqvne qdggaqpgpv pkslqkqrrm lerlvssesk
      241 nyialddfve ltkkyakgii ptnlflqded ededelagks pedlplrqkv vkyplhaime
      301 ikeylidvas kagmhwlsti vpthhinali fffiisnlti dffaffiplv vfylsfvsmv
      361 ictlkvfqds kawenfrtlt dlllrfepnl dveqaevnfg wnhlepyihf llsvvfvifs
      421 fplaskdcip cselavistf ftvtsymsls ssaepytrra lvtevaagll sllptvpvdw
      481 rflkvlgqtf ftvpvghfii lnvslpclly vylfylffrm aqlrnfkgty cylvpylvcf
      541 mwcelsvvil lqstglglvr asigyflflf alpilvagla lmgtvqfarw flsldltkim
      601 vttvicgvpl lfrwwtkanf svmgmvkslt kssmvklilv wltaillfcw fyvyrsegmk
      661 vynstltwqq ygflcgpraw ketnmartqi lcshleghrv twtgrfkyvr vteidnsaes
      721 ainmlpfflg dwmrclygea ypscssgnts taeeelcrlk qlakhpchik kfdrykfeit
      781 vgmpfgtngn rgheedditk divlrassef kdvllnlrqg sliefstile grlgskwpvf
      841 elkaisclnc mtqlsparrh vkieqdwrst vhgalkfafd ffffpflsaa
//
