LOCUS       NM_006005               3640 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens wolframin ER transmembrane glycoprotein (WFS1),
            transcript variant 1, mRNA.
ACCESSION   NM_006005
VERSION     NM_006005.3
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  (bases 1 to 3640)
  AUTHORS   de Muijnck,C., Haer-Wigman,L., van Everdingen,J.A.M., Lushchyk,T.,
            Heutinck,P.A.T., van Dooren,M.F., Kievit,A.J.A., Verhoeven,V.J.M.,
            Simon,M.E.H., Wasmann,R.A., Notting,I.C., De Baere,E., Walraedt,S.,
            De Zaeytijd,J., Van den Broeck,F., Leroy,B.P., Boon,C.J.F. and van
            Genderen,M.M.
  TITLE     Characteristics of autosomal dominant WFS1-associated optic
            neuropathy and its comparability to OPA1-associated autosomal
            dominant optic atrophy
  JOURNAL   Sci Rep 14 (1), 22956 (2024)
   PUBMED   39363032
  REMARK    GeneRIF: Characteristics of autosomal dominant WFS1-associated
            optic neuropathy and its comparability to OPA1-associated autosomal
            dominant optic atrophy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3640)
  AUTHORS   Bouhouche,A., Sefiani,S., Charoute,H., Houyam,T., Bouslam,N., El
            Yousfi,F.Z., Bnouhana,W., Benomar,A., Ouadghiri,F.Z. and
            Regragui,W.
  TITLE     Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
  JOURNAL   Genet Test Mol Biomarkers 28 (6), 257-262 (2024)
   PUBMED   38721948
  REMARK    GeneRIF: Novel WFS1 Variants in Two Moroccan Families with Wolfram
            Syndrome.
REFERENCE   3  (bases 1 to 3640)
  AUTHORS   Menon,J.C., Singh,P., Archana,A., Singh,P., Mittal,M., Kanga,U.,
            Mandal,K., Seth,A., Bhatia,V., Dabadghao,P., Sudhanshu,S., Garg,A.,
            Vishwakarma,R., Sarangi,A.N., Verma,S., Singh,S.K. and Bhatia,E.
  TITLE     High Frequency of Recessive WFS1 Mutations Among Indian Children
            With Islet Antibody-negative Type 1 Diabetes
  JOURNAL   J Clin Endocrinol Metab 109 (3), e1072-e1082 (2024)
   PUBMED   37931151
  REMARK    GeneRIF: High Frequency of Recessive WFS1 Mutations Among Indian
            Children With Islet Antibody-negative Type 1 Diabetes.
REFERENCE   4  (bases 1 to 3640)
  AUTHORS   Hammad,M.M., Abu-Farha,M., Hebbar,P., Anoop,E., Chandy,B.,
            Melhem,M., Channanath,A., Al-Mulla,F., Thanaraj,T.A. and
            Abubaker,J.
  TITLE     The miR-668 binding site variant rs1046322 on WFS1 is associated
            with obesity in Southeast Asians
  JOURNAL   Front Endocrinol (Lausanne) 14, 1185956 (2023)
   PUBMED   37859980
  REMARK    GeneRIF: The miR-668 binding site variant rs1046322 on WFS1 is
            associated with obesity in Southeast Asians.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3640)
  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
REFERENCE   6  (bases 1 to 3640)
  AUTHORS   Lesperance,M.M., Hall,J.W. 3rd, Bess,F.H., Fukushima,K., Jain,P.K.,
            Ploplis,B., San Agustin,T.B., Skarka,H., Smith,R.J., Wills,M. et
            al.
  TITLE     A gene for autosomal dominant nonsyndromic hereditary hearing
            impairment maps to 4p16.3
  JOURNAL   Hum Mol Genet 4 (10), 1967-1972 (1995)
   PUBMED   8595423
REFERENCE   7  (bases 1 to 3640)
  AUTHORS   Polymeropoulos,M.H., Swift,R.G. and Swift,M.
  TITLE     Linkage of the gene for Wolfram syndrome to markers on the short
            arm of chromosome 4
  JOURNAL   Nat Genet 8 (1), 95-97 (1994)
   PUBMED   7987399
REFERENCE   8  (bases 1 to 3640)
  AUTHORS   Barrett,T., Tranebjaerg,L., Gupta,R., McCarthy,L., Rendtorff,N.D.,
            Williams,D., Wright,B. and Dias,R.
  TITLE     WFS1 Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301750
REFERENCE   9  (bases 1 to 3640)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (bases 1 to 3640)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF084481.1, BC069213.1 and
            Y18064.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 14, 2009 this sequence version replaced NM_006005.2.
            
            Summary: This gene encodes a transmembrane protein, which is
            located primarily in the endoplasmic reticulum and ubiquitously
            expressed with highest levels in brain, pancreas, heart, and
            insulinoma beta-cell lines. Mutations in this gene are associated
            with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus,
            Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal
            recessive disorder. The disease affects the brain and central
            nervous system. Mutations in this gene can also cause autosomal
            dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) is the longer transcript.
            Variants 1 and 2 encode the same protein.
            
            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 :: AF084481.1, SRR1660807.102452.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226760.5/ ENSP00000226760.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-853               AF084481.1         1-853
            854-3409            BC069213.1         869-3424
            3410-3640           Y18064.1           3398-3628
FEATURES             Location/Qualifiers
     source          1..3640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..3640
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /note="wolframin ER transmembrane glycoprotein"
                     /db_xref="GeneID:7466"
                     /db_xref="HGNC:HGNC:12762"
                     /db_xref="MIM:606201"
     exon            1..165
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            166..402
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..2843
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /note="Wolfram syndrome 1 (wolframin)"
                     /codon_start=1
                     /product="wolframin"
                     /protein_id="NP_005996.2"
                     /db_xref="CCDS:CCDS3386.1"
                     /db_xref="GeneID:7466"
                     /db_xref="HGNC:HGNC:12762"
                     /db_xref="MIM:606201"
                     /translation="MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAP
                     GPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKA
                     QTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE
                     REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGP
                     VPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAG
                     KSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVS
                     NLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQ
                     AEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTH
                     AEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLY
                     VYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLF
                     LFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMV
                     KSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETN
                     MARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYP
                     ACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDV
                     TKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSP
                     TRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA"
     exon            403..485
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            486..630
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            631..801
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            802..882
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1031
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..3640
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /note="hexamer: AATAAG"
     polyA_site      3258
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
     regulatory      3615..3620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /note="hexamer: AATAAA"
     polyA_site      3640
                     /gene="WFS1"
                     /gene_synonym="CTRCT41; WFRS; WFS; WFSL"
                     /note="major polyA site"
ORIGIN      
        1 gtgcagaagg ccgcgctagc cggctcttca gcagcgagtg cagattgctc ccccgcggcc
       61 gcagatctcc cgtttgcgcc gcgttcagct gctcccgaac aacttttctg ccggcccaga
      121 ggccccaggg cgtcgcagcg ccgcgtgcgg cccactcacg ggccggcagg atggactcca
      181 acactgctcc gctgggcccc tcctgcccac agcccccgcc agcaccgcag ccccaggcgc
      241 gttcccgact caatgccaca gcctcgttgg agcaggagag gagcgaaagg ccccgagcac
      301 ccggacccca ggctggccct ggccctggtg ttagagacgc agcggccccc gctgaacccc
      361 aggcccagca taccaggagc cgggaaagag cagacggcac cgggcctaca aagggagaca
      421 tggaaatccc ctttgaagaa gtcctggaga gggccaaggc cggggacccc aaggcacaga
      481 ctgaggtggg gaagcactac ctgcagttgg ccggcgacac ggatgaagaa ctcaacagct
      541 gcaccgctgt ggactggctg gtcctcgccg cgaagcaggg ccgtcgcgag gctgtgaagc
      601 tgcttcgccg gtgcttggcg gacagaagag gcatcacgtc cgagaacgaa cgggaggtga
      661 ggcagctctc ctccgagacc gacctggaga gggccgtgcg caaggcagcc ctggtcatgt
      721 actggaagct caaccccaag aagaagaagc aggtggccgt ggcggagctg ctggagaatg
      781 tcggccaggt caacgagcac gatggagggg cgcagccagg ccccgtgccc aagtccctgc
      841 agaagcagag gcgcatgctg gagcgcctgg tcagcagcga gtccaagaac tacatcgcgc
      901 tggatgactt tgtggagatc actaagaagt acgccaaggg cgtcatcccc agcagcctgt
      961 tcctgcagga cgacgaagat gatgacgagc tggcggggaa gagccctgag gacctgccac
     1021 tgcgtctgaa ggtggtcaag taccccctgc acgccatcat ggagatcaag gagtacctga
     1081 ttgacatggc ctccagggca ggcatgcact ggctgtccac catcatcccc acgcaccaca
     1141 tcaacgcgct catcttcttc ttcatcgtca gcaacctcac catcgacttc ttcgccttct
     1201 tcatcccgct ggtcatcttc tacctgtcct tcatctccat ggtgatctgc accctcaagg
     1261 tgttccagga cagcaaggcc tgggagaact tccgcaccct caccgacctg ctgctgcgct
     1321 tcgagcccaa cctggatgtg gagcaggccg aggtcaactt cggctggaac cacctggagc
     1381 cctatgccca tttcctgctc tctgtcttct tcgtcatctt ctccttcccc atcgccagca
     1441 aggactgcat cccctgctcg gagctggctg tcatcaccgg cttctttacc gtgaccagct
     1501 acctgagcct gagcacccat gcagagccct acacgcgcag ggccctggcc accgaggtca
     1561 ccgccggcct gctatcgctg ctgccctcca tgcccttgaa ttggccctac ctgaaggtcc
     1621 ttggccagac cttcatcacc gtgcctgtcg gccacctggt cgtcctcaac gtcagcgtcc
     1681 cgtgcctgct ctatgtctac ctgctctatc tcttcttccg catggcacag ctgaggaatt
     1741 tcaagggcac ctactgctac cttgtgccct acctggtgtg cttcatgtgg tgtgagctct
     1801 ccgtggtcat cctgctggag tccaccggcc tggggctgct ccgcgcctcc atcggctact
     1861 tcctcttcct ctttgccctc cccatcctgg tggccggcct ggccctggtg ggcgtgctgc
     1921 agttcgcccg gtggttcacg tctctggagc tcaccaagat cgcagtcacc gtggcggtct
     1981 gtagtgtgcc cctgctgttg cgctggtgga ccaaggccag cttctctgtg gtggggatgg
     2041 tgaagtccct gacgcggagc tccatggtca agctcatcct ggtgtggctc acggccatcg
     2101 tgctgttctg ctggttctat gtgtaccgct cagagggcat gaaggtctac aactccacac
     2161 tgacctggca gcagtatggt gcgctgtgcg ggccacgcgc ctggaaggag accaacatgg
     2221 cgcgcaccca gatcctctgc agccacctgg agggccacag ggtcacgtgg accggccgct
     2281 tcaagtacgt ccgcgtgact gacatcgaca acagcgccga gtctgccatc aacatgctcc
     2341 cgttcttcat cggcgactgg atgcgctgcc tctacggcga ggcctaccct gcctgcagcc
     2401 ctggcaacac ctccacggcc gaggaggagc tctgtcgcct taagctgctg gccaagcacc
     2461 cctgccacat caagaagttc gaccgctaca agtttgagat taccgtgggc atgccattca
     2521 gcagcggcgc tgacggctcg cgcagccgcg aggaggacga cgtcaccaag gacatcgtgc
     2581 tgcgggccag cagcgagttc aagagcgtgc tgctcagcct gcgccagggc agcctcatcg
     2641 agttcagcac catcctggag ggccgcctgg gcagcaagtg gcctgtcttc gagctcaagg
     2701 ccatcagctg cctcaactgc atggcccagc tctcacccac caggcggcac gtgaagatcg
     2761 agcacgactg gcgcagcacc gtgcatggcg ccgtgaagtt cgccttcgac ttctttttct
     2821 tcccattcct gtcggcggcc tgaggatggt ccgccacgag gagcttccag tgcatgttgc
     2881 catgaggcct ttccccagtg tggccccagc ccgacaggca tgcaccagtg ccgcctgtgc
     2941 ccacgtgtgc agactgtggc tgcagagacc ttgcgaccat gtgtagattg cgtggacccc
     3001 gacaaaggga aggctgctgt gtagctctgt ccactctgaa taccaagtgt gttgggaatt
     3061 gcatgccatc tccaccctga gcctgacctt tctgagtgac atgggtgtgc caggctagac
     3121 taggaggttc cggtgtctgg aaaagcactt tacagatgag attccctctc ctcccccacc
     3181 ttcaagcacc ctgttccctc tttctttctt ttgtgttgga tttgtttaaa aaccaaataa
     3241 gcatctgtgt aacctccaca gtagcatttc ttatttgttt ggtcactgct acaccttagc
     3301 agctcttccc ctttcctggg ggatgtgcac ggcagcttga gcctgtcacg tggtcaaggc
     3361 ccggccccat cagaggctgg gggaggcggc acattggcag tgtgtcacac tgagctgggc
     3421 accacaggct gcctcatgac cctcctgtcc agcaggtagt gggtgaatgt gtgaaggtct
     3481 tgcctgaatc catcaggact tgggaaacag agaaccctgt gggggcggct gtgggggagg
     3541 tccctgccag tgtttagaag agcctgactg tgttcagtgc cttggagcag aaagccaggg
     3601 tcctgagtgg ctgaaataaa agcctctggt ggaacctgca
//
