LOCUS       NP_998764                913 aa            linear   PRI 07-JUN-2025
DEFINITION  anoctamin-5 isoform a [Homo sapiens].
ACCESSION   NP_998764
VERSION     NP_998764.1
DBSOURCE    REFSEQ: accession NM_213599.3
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  (residues 1 to 913)
  AUTHORS   Zhou,Z., Zhang,Y., Zhu,L., Cui,Y., Gao,Y. and Zhou,C.X.
  TITLE     Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr
            mutations: Clinicopathological and genetic study with literature
            review
  JOURNAL   Mol Genet Genomic Med 12 (1), e2277 (2024)
   PUBMED   37649308
  REMARK    GeneRIF: Familial gigantiform cementoma with recurrent ANO5
            p.Cys356Tyr mutations: Clinicopathological and genetic study with
            literature review.
            Review article
REFERENCE   2  (residues 1 to 913)
  AUTHORS   de Bruyn,A., Montagnese,F., Holm-Yildiz,S., Scharff Poulsen,N.,
            Stojkovic,T., Behin,A., Palmio,J., Jokela,M., De Bleecker,J.L., de
            Visser,M., van der Kooi,A.J., Ten Dam,L., Dominguez Gonzalez,C.,
            Maggi,L., Gallone,A., Kostera-Pruszczyk,A., Macias,A.,
            Lusakowska,A., Nedkova,V., Olive,M., Alvarez-Velasco,R.,
            Wanschitz,J., Paradas,C., Mavillard,F., Querin,G.,
            Fernandez-Eulate,G., Quinlivan,R., Walter,M.C., Depuydt,C.E.,
            Udd,B., Vissing,J., Schoser,B. and Claeys,K.G.
  TITLE     Anoctamin-5 related muscle disease: clinical and genetic findings
            in a large European cohort
  JOURNAL   Brain 146 (9), 3800-3815 (2023)
   PUBMED   36913258
  REMARK    GeneRIF: Anoctamin-5 related muscle disease: clinical and genetic
            findings in a large European cohort.
REFERENCE   3  (residues 1 to 913)
  AUTHORS   Fukami,T., Shiozaki,A., Kosuga,T., Kudou,M., Shimizu,H., Ohashi,T.,
            Arita,T., Konishi,H., Komatsu,S., Kubota,T., Fujiwara,H.,
            Okamoto,K., Kishimoto,M., Morinaga,Y., Konishi,E. and Otsuji,E.
  TITLE     Anoctamin 5 regulates the cell cycle and affects prognosis in
            gastric cancer
  JOURNAL   World J Gastroenterol 28 (32), 4649-4667 (2022)
   PUBMED   36157935
  REMARK    GeneRIF: Anoctamin 5 regulates the cell cycle and affects prognosis
            in gastric cancer.
REFERENCE   4  (residues 1 to 913)
  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   5  (residues 1 to 913)
  AUTHORS   Jarry,J., Rioux,M.F., Bolduc,V., Robitaille,Y., Khoury,V.,
            Thiffault,I., Tetreault,M., Loisel,L., Bouchard,J.P. and Brais,B.
  TITLE     A novel autosomal recessive limb-girdle muscular dystrophy with
            quadriceps atrophy maps to 11p13-p12
  JOURNAL   Brain 130 (Pt 2), 368-380 (2007)
   PUBMED   17008331
REFERENCE   6  (residues 1 to 913)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     GDD1 is identical to TMEM16E, a member of the TMEM16 family
  JOURNAL   Am J Hum Genet 75 (5), 927-8 (2004)
   PUBMED   15457408
REFERENCE   7  (residues 1 to 913)
  AUTHORS   Tsutsumi,S., Kamata,N., Vokes,T.J., Maruoka,Y., Nakakuki,K.,
            Enomoto,S., Omura,K., Amagasa,T., Nagayama,M., Saito-Ohara,F.,
            Inazawa,J., Moritani,M., Yamaoka,T., Inoue,H. and Itakura,M.
  TITLE     The novel gene encoding a putative transmembrane protein is mutated
            in gnathodiaphyseal dysplasia (GDD)
  JOURNAL   Am J Hum Genet 74 (6), 1255-1261 (2004)
   PUBMED   15124103
REFERENCE   8  (residues 1 to 913)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of TMEM16E and TMEM16F genes in
            silico
  JOURNAL   Int J Oncol 24 (5), 1345-1349 (2004)
   PUBMED   15067359
REFERENCE   9  (residues 1 to 913)
  AUTHORS   Palmio,J., Penttila,S. and Jokela,M.
  TITLE     ANO5-Related Muscle Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23193613
REFERENCE   10 (residues 1 to 913)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - 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   20301582
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107886.2, AB125267.1,
            AK125046.1, AC104009.7, AL833271.1 and BU742779.1.
            
            Summary: This gene encodes a member of the anoctamin family of
            transmembrane proteins. The encoded protein is likely a calcium
            activated chloride channel. Mutations in this gene have been
            associated with gnathodiaphyseal dysplasia. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Nov
            2009].
            
            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 :: AL833271.1, AB125267.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324559.9/ ENSP00000315371.9
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.3"
     Protein         1..913
                     /product="anoctamin-5 isoform a"
                     /note="transmembrane protein 16E; integral membrane
                     protein GDD1; gnathodiaphyseal dysplasia 1 protein"
                     /calculated_mol_wt=107057
     Region          72..289
                     /region_name="Anoct_dimer"
                     /note="dimerization domain of Ca+-activated
                     chloride-channel, anoctamin; pfam16178"
                     /db_xref="CDD:465044"
     Region          292..868
                     /region_name="Anoctamin"
                     /note="Calcium-activated chloride channel; pfam04547"
                     /db_xref="CDD:461349"
     Site            300..320
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            335
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            366
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            380
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            381..401
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Region          <462..>583
                     /region_name="COG5594"
                     /note="Uncharacterized integral membrane protein [Function
                     unknown]"
                     /db_xref="CDD:227881"
     Site            463..483
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            512..532
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            558..578
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            680..700
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            733..753
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            768
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            778
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            791
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q75V66.1)"
     Site            835..855
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q75V66.1)"
     CDS             1..913
                     /gene="ANO5"
                     /gene_synonym="GDD1; LGMD2L; LGMDR12; TMEM16E"
                     /coded_by="NM_213599.3:409..3150"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31444.1"
                     /db_xref="GeneID:203859"
                     /db_xref="HGNC:HGNC:27337"
                     /db_xref="MIM:608662"
ORIGIN      
        1 mgdpdllevl aeegekvnkh idysfqmseq slssretsfl ineetmpakr fnlflrrrlm
       61 fqknqqskds iffrdgirqi dfvlsyvddv kkdaelkaer rkefetnlrk tgleleiedk
      121 rdsedgrtyf vkihapwevl vtyaevlgik mpikesdipr pkhtpisyvl gpvrlplsvk
      181 yphpeyftaq fsrhrqelfl iedqatffps ssrnrivyyi lsrcpfgied gkkrfgierl
      241 lnsntyssay plhdgqywkp seppnptner ytlhqnwarf syfykeqpld liknyygeki
      301 giyfvflgfy temlffaavv glacfiygll smehntsste icdpeiggqm imcplcdqvc
      361 dywrlnstcl askfshlfdn estvffaifm giwvtlflef wkqrqarley ewdlvdfeee
      421 qqqlqlrpef eamckhrkln avtkemepym plytripwyf lsgatvtlwm slvvtsmvav
      481 ivyrlsvfat fasfmesdas lkqvksfltp qittsltgsc lnfivililn ffyekisawi
      541 tkmeiprtyq eyessltlkm flfqfvnfys scfyvaffkg kfvgypgkyt ylfnewrsee
      601 cdpggcliel ttqltiimtg kqifgnikea iyplalnwwr rrkartnsek lysrweqdhd
      661 lesfgplglf yeyletvtqf gfvtlfvasf plapllalin niveirvdaw klttqyrrtv
      721 askahsigvw qdilygmavl svatnafiva ftsdiiprlv yyyaystnat qpmtgyvnns
      781 lsvfliadfp nhtapsekrd fitcryrdyr yppddenkyf hnmqfwhvla akmtfiivme
      841 hvvflvkfll awmipdvpkd vverikrekl mtikilhdfe lnklkenlgi nsnefakhvm
      901 ieenkaqlak stl
//
