LOCUS       NM_018075               3155 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.
ACCESSION   NM_018075
VERSION     NM_018075.5
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 3155)
  AUTHORS   Nuzhnyi,E.P., Protopopova,A.O., Abramycheva,N.Y., Protsenko,A.R.
            and Illarioshkin,S.N.
  TITLE     [Rare forms of autosomal recessive spinocerebellar ataxia
            associated with mutations in the ANO10 (ATX-ANO10) and SYNE1
            (ATX-SYNE1) genes]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 124 (8), 32-38 (2024)
   PUBMED   39269294
  REMARK    GeneRIF: [Rare forms of autosomal recessive spinocerebellar ataxia
            associated with mutations in the ANO10 (ATX-ANO10) and SYNE1
            (ATX-SYNE1) genes].
REFERENCE   2  (bases 1 to 3155)
  AUTHORS   Petkovic,M., Oses-Prieto,J., Burlingame,A., Jan,L.Y. and Jan,Y.N.
  TITLE     TMEM16K is an interorganelle regulator of endosomal sorting
  JOURNAL   Nat Commun 11 (1), 3298 (2020)
   PUBMED   32620747
  REMARK    GeneRIF: TMEM16K is an interorganelle regulator of endosomal
            sorting.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3155)
  AUTHORS   Nieto,A., Perez-Flores,J., Corral-Juan,M., Matilla-Duenas,A.,
            Martinez-Burgallo,F. and Monton,F.
  TITLE     Cognitive characterization of SCAR10 caused by a homozygous
            c.132dupA mutation in the ANO10 gene
  JOURNAL   Neurocase 25 (5), 195-201 (2019)
   PUBMED   31423897
  REMARK    GeneRIF: Cognitive impairment seems to be a characteristic of the
            SCAR10 produced by an ANO10 gene mutation, with a range from mild
            impairment, especially involving prefrontal systems, to a severe
            cognitive impairment suggesting widespread cerebral involvement.
REFERENCE   4  (bases 1 to 3155)
  AUTHORS   Bushell,S.R., Pike,A.C.W., Falzone,M.E., Rorsman,N.J.G., Ta,C.M.,
            Corey,R.A., Newport,T.D., Christianson,J.C., Scofano,L.F.,
            Shintre,C.A., Tessitore,A., Chu,A., Wang,Q., Shrestha,L.,
            Mukhopadhyay,S.M.M., Love,J.D., Burgess-Brown,N.A., Sitsapesan,R.,
            Stansfeld,P.J., Huiskonen,J.T., Tammaro,P., Accardi,A. and
            Carpenter,E.P.
  TITLE     The structural basis of lipid scrambling and inactivation in the
            endoplasmic reticulum scramblase TMEM16K
  JOURNAL   Nat Commun 10 (1), 3956 (2019)
   PUBMED   31477691
  REMARK    GeneRIF: Data show that transmembrane protein 16K (TMEM16K) is an
            endoplasmic reticulum (ER)-resident lipid scramblase with a
            requirement for short chain lipids and calcium for robust activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3155)
  AUTHORS   Pedemonte,N. and Galietta,L.J.
  TITLE     Structure and function of TMEM16 proteins (anoctamins)
  JOURNAL   Physiol Rev 94 (2), 419-459 (2014)
   PUBMED   24692353
  REMARK    Review article
REFERENCE   6  (bases 1 to 3155)
  AUTHORS   Kunzelmann,K., Tian,Y., Martins,J.R., Faria,D., Kongsuphol,P.,
            Ousingsawat,J., Thevenod,F., Roussa,E., Rock,J. and Schreiber,R.
  TITLE     Anoctamins
  JOURNAL   Pflugers Arch 462 (2), 195-208 (2011)
   PUBMED   21607626
  REMARK    Review article
REFERENCE   7  (bases 1 to 3155)
  AUTHORS   Vermeer,S., Hoischen,A., Meijer,R.P., Gilissen,C., Neveling,K.,
            Wieskamp,N., de Brouwer,A., Koenig,M., Anheim,M., Assoum,M.,
            Drouot,N., Todorovic,S., Milic-Rasic,V., Lochmuller,H.,
            Stevanin,G., Goizet,C., David,A., Durr,A., Brice,A., Kremer,B., van
            de Warrenburg,B.P., Schijvenaars,M.M., Heister,A., Kwint,M.,
            Arts,P., van der Wijst,J., Veltman,J., Kamsteeg,E.J., Scheffer,H.
            and Knoers,N.
  TITLE     Targeted next-generation sequencing of a 12.5 Mb homozygous region
            reveals ANO10 mutations in patients with autosomal-recessive
            cerebellar ataxia
  JOURNAL   Am J Hum Genet 87 (6), 813-819 (2010)
   PUBMED   21092923
REFERENCE   8  (bases 1 to 3155)
  AUTHORS   Milenkovic,V.M., Brockmann,M., Stohr,H., Weber,B.H. and Strauss,O.
  TITLE     Evolution and functional divergence of the anoctamin family of
            membrane proteins
  JOURNAL   BMC Evol Biol 10, 319 (2010)
   PUBMED   20964844
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3155)
  AUTHORS   Hartzell,H.C., Yu,K., Xiao,Q., Chien,L.T. and Qu,Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   10 (bases 1 to 3155)
  AUTHORS   Galindo,B.E. and Vacquier,V.D.
  TITLE     Phylogeny of the TMEM16 protein family: some members are
            overexpressed in cancer
  JOURNAL   Int J Mol Med 16 (5), 919-924 (2005)
   PUBMED   16211264
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096302.1, AA252209.1 and
            AC104184.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_018075.4.
            
            Summary: The transmembrane protein encoded by this gene belongs to
            the anoctamin family of calcium-activated chloride channels, also
            known as the transmembrane 16 family. The encoded protein contains
            eight transmembrane domains with cytosolic N- and C-termini.
            Defects in this gene may cause autosomal recessive spinocerebellar
            ataxia-10. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) encodes isoform (1). Variants
            1 and 11 encode the same isoform.
            
            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 :: AK096302.1, SRR1803611.56051.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292246.8/ ENSP00000292246.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2665              AK096302.1         58-2722
            2666-2677           AA252209.1         10-21               c
            2678-3155           AC104184.2         89476-89953         c
FEATURES             Location/Qualifiers
     source          1..3155
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1-p21.33"
     gene            1..3155
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /note="anoctamin 10"
                     /db_xref="GeneID:55129"
                     /db_xref="HGNC:HGNC:25519"
                     /db_xref="MIM:613726"
     exon            1..103
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            104..253
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..2097
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 16K"
                     /codon_start=1
                     /product="anoctamin-10 isoform 1"
                     /protein_id="NP_060545.3"
                     /db_xref="CCDS:CCDS2710.2"
                     /db_xref="GeneID:55129"
                     /db_xref="HGNC:HGNC:25519"
                     /db_xref="MIM:613726"
                     /translation="MKVTLSALDTSESSFTPLVVIELAQDVKEETKEWLKNRIIAKKK
                     DGGAQLLFRPLLNKYEQETLENQNLYLVGASKIRMLLGAEAVGLVKECNDNTMRAFTY
                     RTRQNFKGFDDNNDDFLTMAECQFIIKHELENLRAKDEKMIPGYPQAKLYPGKSLLRR
                     LLTSGIVIQVFPLHDSEALKKLEDTWYTRFALKYQPIDSIRGYFGETIALYFGFLEYF
                     TFALIPMAVIGLPYYLFVWEDYDKYVIFASFNLIWSTVILELWKRGCANMTYRWGTLL
                     MKRKFEEPRPGFHGVLGINSITGKEEPLYPSYKRQLRIYLVSLPFVCLCLYFSLYVMM
                     IYFDMEVWALGLHENSGSEWTSVLLYVPSIIYAIVIEIMNRLYRYAAEFLTSWENHRL
                     ESAYQNHLILKVLVFNFLNCFASLFYIAFVLKDMKLLRQSLATLLITSQILNQIMESF
                     LPYWLQRKHGVRVKRKVQALKADIDATLYEQVILEKEMGTYLGTFDDYLELFLQFGYV
                     SLFSCVYPLAAAFAVLNNFTEVNSDALKMCRVFKRPFSEPSANIGVWQLAFETMSVIS
                     VVTNCALIGMSPQVNAVFPESKADLILIVVAVEHALLALKFILAFAIPDKPRHIQMKL
                     ARLEFESLEALKQQQMKLVTENLKEEPMESGKEKAT"
     exon            254..451
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            452..586
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            587..706
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            707..1276
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1332
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1407
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1590
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1782
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1783..1911
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2028
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     exon            2029..3155
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2598..2603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /note="hexamer: AATACA"
     polyA_site      2641
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
     regulatory      2645..2650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /note="hexamer: ATTAAA"
     polyA_site      2664
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
                     /note="major polyA site"
     polyA_site      2691
                     /gene="ANO10"
                     /gene_synonym="SCAR10; TMEM16K"
ORIGIN      
        1 actggcctgg cccgcccccc gcaccgagca ctctttcgcc cggcctccgg ttctcgccgg
       61 ctctcggacc cgcctccgaa gacgtggagc gctgcggcgg ctgatttgtc aaagatgaaa
      121 gtgaccttat cagctttgga tacttctgag agttctttca cacctttggt ggtcatagaa
      181 cttgctcagg atgtcaaaga agaaaccaaa gaatggctga aaaacagaat tatagctaaa
      241 aaaaaagatg gaggtgccca gttgttgttt agaccattgt taaataaata tgaacaagaa
      301 acactagaaa atcagaactt atatcttgtt ggtgcctcca agattagaat gttactaggg
      361 gcagaagcag tgggattggt aaaagagtgc aatgataaca ccatgagagc cttcacatac
      421 agaaccagac agaacttcaa aggttttgat gataacaatg atgatttcct gacaatggca
      481 gaatgtcaat tcattatcaa acatgaactt gaaaatctta gagctaaaga tgaaaaaatg
      541 atccctggtt accctcaggc aaagttgtat ccaggaaaat cattgttgag aagattgctc
      601 acgtctggca tcgtgattca ggtgtttcca ctgcatgaca gtgaagccct gaagaagctt
      661 gaggacacct ggtacactcg gtttgctttg aagtatcagc ccatagacag tattcgtggc
      721 tactttgggg aaacaattgc tctgtacttt ggatttttgg agtatttcac ttttgcatta
      781 atccccatgg ctgtcattgg gttaccttac tacttgtttg tgtgggaaga ctatgacaag
      841 tacgtgatct ttgcctcgtt caacctcatc tggtccacgg tgattctgga actgtggaag
      901 cgtggctgtg ccaacatgac ctacaggtgg gggacactgc tcatgaagag aaagtttgag
      961 gagccccggc caggatttca tggtgtcttg ggtatcaatt ccatcactgg gaaggaggag
     1021 cctctgtacc ccagctacaa gagacagttg cgcatttacc tggtctccct gccattcgtg
     1081 tgcctctgcc tctatttctc actgtatgtc atgatgattt acttcgacat ggaggtttgg
     1141 gccttgggtc tacatgagaa cagcgggtct gagtggacca gtgtcctgtt gtatgtgccc
     1201 agcatcatct atgccattgt gattgagatc atgaatcgtc tctatcgata tgctgccgag
     1261 tttttaactt catgggagaa tcacagattg gaatctgcct atcagaacca tctaattctg
     1321 aaagttttag tgttcaactt cctcaattgc tttgcctcac tcttctatat tgcctttgtc
     1381 ttgaaagata tgaagctttt gcgccagagc ttggccactc tcctaattac ctcccagatc
     1441 ctcaaccaaa ttatggaatc ttttcttcct tattggctcc aaaggaagca tggtgtgcgg
     1501 gtgaagagga aggtgcaggc tttaaaggca gacattgatg ctacattata tgaacaagtc
     1561 atcctggaaa aagaaatggg aacttatttg ggcacctttg atgattactt ggagttattc
     1621 ctgcagtttg gttatgtgag ccttttctcc tgtgtttacc cattagcagc tgcctttgct
     1681 gtgttaaata acttcactga agtaaattca gatgccttaa aaatgtgcag ggtcttcaaa
     1741 cgtccattct cagaaccttc agccaatatt ggtgtgtggc agttggcttt tgaaacgatg
     1801 agtgttatat ctgtggtcac taactgtgcg ctgattggaa tgtcaccaca agtgaatgca
     1861 gtctttccag aatcaaaagc agacctcatt ttgattgtag tagcagtgga gcacgcactc
     1921 ctggctttaa agtttatact tgcatttgcc atacctgata agccacggca tatccagatg
     1981 aaactagcca gactggaatt tgagtctttg gaggcactca agcagcagca aatgaagctc
     2041 gtgaccgaga acctgaagga ggaaccaatg gaaagcggga aggagaaggc aacctgagtg
     2101 cccagcgtgc ccagctgccc tgttggcaga ggcctgtgtc tgtgccacac ctgccacggt
     2161 ggcagggggg gtacccgggg cagcatcgtg gctcctgaac ccagacccaa tgcttagcca
     2221 aacgaagtgg ctcccatgtg gcaagcaccc ttctcagttt cgcagtggct tggctcggga
     2281 tccttggcag ttcccccagc cccaccctgt ctgctccttc ccagttcctt cccgggcccc
     2341 acacgctgct ccagctgcca actttgctgc agagccactg ccgcccttga gcctctcacc
     2401 atgagtgagc caccagctct ccacgttccc ctcatagcag tgtcactccc aaccccacca
     2461 tggcccaggg acccgtggac aggttgggga tggggtgtgt gcccactgtg ctcatcacag
     2521 gagcctcagt tgagagtgag cggggtacag taaggcagtg cttcccacac tggacctctt
     2581 tcctggttct cttttgcaat acattaacag accctttatc aacataaaca atagtaactg
     2641 agctattaaa ggcaacctct ctgactcctt ctgcctacat aggtaccgca atgggcttcc
     2701 cttttctgaa gcacttggtg aggtcactga aggtggagcg gtgagatcag gagcccaggg
     2761 tgaggggctt ggctggaggc caggcaccaa agcttgtagc tgaaggctgg gccatttttg
     2821 agaactgctg ctggtggtgc ccacctacag ggacactagg gctgctttca catgcagggt
     2881 gtacccatgg tgccaagcca agggccagca gccactcctg gtgccctggc ctgggcttgg
     2941 gcttgcagag aaaagggccc tccttgccca gtggtgctgc ccacctccct agctgtgtcc
     3001 atggactgcc ctgcattcac aggcacaaga atgccatgta ggccagtgct gcccacgtat
     3061 acagcccttc ccaccagcgc tggccgtcct gctgtagcca agacactaca gacccgtggg
     3121 cacctccact cggacagcag cagatgccct ggccc
//
