LOCUS       NM_001001412            3212 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.
ACCESSION   NM_001001412
VERSION     NM_001001412.4
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  (bases 1 to 3212)
  AUTHORS   Jeon,Y.K., Choi,S.W., Kwon,J.W., Woo,J., Choi,S.W., Kim,S.J. and
            Kim,S.J.
  TITLE     Thermosensitivity of the voltage-dependent activation of calcium
            homeostasis modulator 1 (calhm1) ion channel
  JOURNAL   Biochem Biophys Res Commun 534, 590-596 (2021)
   PUBMED   33199024
  REMARK    GeneRIF: Thermosensitivity of the voltage-dependent activation of
            calcium homeostasis modulator 1 (calhm1) ion channel.
REFERENCE   2  (bases 1 to 3212)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3212)
  AUTHORS   Demura,K., Kusakizako,T., Shihoya,W., Hiraizumi,M., Nomura,K.,
            Shimada,H., Yamashita,K., Nishizawa,T., Taruno,A. and Nureki,O.
  TITLE     Cryo-EM structures of calcium homeostasis modulator channels in
            diverse oligomeric assemblies
  JOURNAL   Sci Adv 6 (29), eaba8105 (2020)
   PUBMED   32832629
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3212)
  AUTHORS   Cisneros-Mejorado,A., Gottlieb,M., Ruiz,A., Chara,J.C.,
            Perez-Samartin,A., Marambaud,P. and Matute,C.
  TITLE     Blockade and knock-out of CALHM1 channels attenuate ischemic brain
            damage
  JOURNAL   J Cereb Blood Flow Metab 38 (6), 1060-1069 (2018)
   PUBMED   28597712
REFERENCE   5  (bases 1 to 3212)
  AUTHORS   Sleegers,K., Brouwers,N., Bettens,K., Engelborghs,S., van
            Miegroet,H., De Deyn,P.P. and Van Broeckhoven,C.
  TITLE     No association between CALHM1 and risk for Alzheimer dementia in a
            Belgian population
  JOURNAL   Hum Mutat 30 (4), E570-E574 (2009)
   PUBMED   19191332
  REMARK    GeneRIF: Study suggests the polymorphism does not contribute
            significantly to Alzheimer dementia risk in the Belgian population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3212)
  AUTHORS   Minster,R.L., Demirci,F.Y., DeKosky,S.T. and Kamboh,M.I.
  TITLE     No association between CALHM1 variation and risk of Alzheimer
            disease
  JOURNAL   Hum Mutat 30 (4), E566-E569 (2009)
   PUBMED   19191331
  REMARK    GeneRIF: No association with risk of late-onset Alzheimer disease
            (p=0.368 for genotypes; p=0.796 for alleles) was observed in the
            study, however, a potential modest association of minor allele
            homozygosity (TT) with an earlier age-at-onset was seen.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3212)
  AUTHORS   Bertram,L., Schjeide,B.M., Hooli,B., Mullin,K., Hiltunen,M.,
            Soininen,H., Ingelsson,M., Lannfelt,L., Blacker,D. and Tanzi,R.E.
  TITLE     No association between CALHM1 and Alzheimer's disease risk
  JOURNAL   Cell 135 (6), 993-4 (2008)
   PUBMED   19070563
  REMARK    GeneRIF: Study assessed the potential association between
            Alzheimer's Disease risk and the Pro86Leu variant in the CALHM1
            gene; no association was observed, either in the individual samples
            or in the combined analyses of more than 8100 subjects
REFERENCE   8  (bases 1 to 3212)
  AUTHORS   Lambert,J.C., Campagne,F. and Marambaud,P.
  TITLE     [CALHM1, a novel gene to blame in Alzheimer disease]
  JOURNAL   Med Sci (Paris) 24 (11), 923-924 (2008)
   PUBMED   19038093
  REMARK    GeneRIF: Protein may be a genetic determinant of Alzheimer disease,
            since a polymorphism reduces calcium permeability.
REFERENCE   9  (bases 1 to 3212)
  AUTHORS   Green,K.N. and LaFerla,F.M.
  TITLE     Linking calcium to Abeta and Alzheimer's disease
  JOURNAL   Neuron 59 (2), 190-194 (2008)
   PUBMED   18667147
  REMARK    GeneRIF: [Review] Expression of CALHM1 is found in all brain
            regions and cells of neuronal lineage; it localizes predominantly
            to the endoplasmic reticulum but also exists at the plasma
            membrane, where it forms a novel calcium influx route to the
            cytosol.
            Review article
REFERENCE   10 (bases 1 to 3212)
  AUTHORS   Dreses-Werringloer,U., Lambert,J.C., Vingtdeux,V., Zhao,H.,
            Vais,H., Siebert,A., Jain,A., Koppel,J., Rovelet-Lecrux,A.,
            Hannequin,D., Pasquier,F., Galimberti,D., Scarpini,E., Mann,D.,
            Lendon,C., Campion,D., Amouyel,P., Davies,P., Foskett,J.K.,
            Campagne,F. and Marambaud,P.
  TITLE     A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels,
            and Alzheimer's disease risk
  JOURNAL   Cell 133 (7), 1149-1161 (2008)
   PUBMED   18585350
  REMARK    GeneRIF: Study determined that the CALHM1 P86L polymorphism is
            associated with Alzheimer's disease, further found that the P86L
            polymorphism increases amyloid-beta levels by interfering with
            CALHM1-mediated Ca(2+) permeability.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139339.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 27, 2019 this sequence version replaced NM_001001412.3.
            
            Summary: This gene encodes a calcium channel that plays a role in
            processing of amyloid-beta precursor protein. A polymorphism at
            this locus has been reported to be associated with susceptibility
            to late-onset Alzheimer's disease in some populations, but the
            pathogenicity of this polymorphism is unclear.[provided by RefSeq,
            Mar 2010].
            
            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 :: BC036208.1, SRR14038196.1116224.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329905.6/ ENSP00000329926.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-704               AL139339.22        35658-36361         c
            705-3212            AL139339.22        30701-33208         c
FEATURES             Location/Qualifiers
     source          1..3212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.33"
     gene            1..3212
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="calcium homeostasis modulator 1"
                     /db_xref="GeneID:255022"
                     /db_xref="HGNC:HGNC:23494"
                     /db_xref="MIM:612234"
     exon            1..704
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1190
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="family with sequence similarity 26, member C"
                     /codon_start=1
                     /product="calcium homeostasis modulator protein 1"
                     /protein_id="NP_001001412.3"
                     /db_xref="CCDS:CCDS7550.1"
                     /db_xref="GeneID:255022"
                     /db_xref="HGNC:HGNC:23494"
                     /db_xref="MIM:612234"
                     /translation="MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPC
                     LPGYNAAYSAGILLAPPLVLFLLGLVMNNNVSMLAEEWKRPLGRRAKDPAVLRYMFCS
                     MAQRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGNGSLAPGLPAPELARLLARVP
                     CPEIYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFTQAAFLKSK
                     YWSHYIDIERKLFDETCTEHAKAFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAA
                     PTTPDGAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEPPLMGNGWAGGGPRP
                     PRKEVATYFSKV"
     exon            705..3212
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3193..3198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="hexamer: AATAAA"
     polyA_site      3212
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="major polyA site"
ORIGIN      
        1 agtgacctca gcctctgctc tgagctctgt tggtcccagc caggagagcc cgagtcatga
       61 ggtgggcacc cagtgggcag ggtgggcagc aggggccctc ttggaggcag cagtgagttg
      121 ggaagaggag gccgggcccc acagcgggca tgatggacaa gttccggatg atcttccagt
      181 tcctgcagtc caaccaggag tccttcatga atggcatctg tggcatcatg gccctggcca
      241 gtgcccagat gtactcggcc ttcgacttca actgcccctg cctgccgggc tacaatgcag
      301 cctacagcgc gggcatcctg ctggcgccac ccctggtgct ctttctgctt ggcctggtca
      361 tgaacaacaa cgtgtccatg ctggccgaag agtggaagcg gccgctgggc cgccgggcca
      421 aggaccccgc tgtgttgcgc tacatgttct gctccatggc ccagcgcgcc ctcatcgcgc
      481 ctgtcgtctg ggtggccgtc acgctactcg acggcaaatg cttcctctgt gccttctgca
      541 ctgccgtgcc cgtgagcgca ctgggcaacg gcagcctggc acccggcctt cctgcccccg
      601 agctcgcccg cctgctggcc cgggtgccct gccctgagat ctacgatggc gactggctgt
      661 tggcccgaga ggtggccgtg cgttacctcc gctgcatctc ccaggcgctg ggctggtcct
      721 tcgtgctgct gaccactctg ctggcattcg tggtgcgctc tgtgcggccc tgcttcacgc
      781 aggccgcctt cctcaagagc aagtactggt cccactatat cgacatcgag cgcaagctct
      841 tcgacgagac gtgcacggag cacgccaaag cctttgccaa ggtctgcatc cagcagttct
      901 tcgaggccat gaaccatgac ctggagctgg gtcacaccca cgggacactg gccacggccc
      961 ctgcttccgc agctgccccc acgacccccg atggtgcgga ggaggaaagg gagaagctgc
     1021 gtggcatcac ggatcaaggc accatgaaca ggctgctcac gagctggcac aaatgcaaac
     1081 cgcctctgcg gctgggccag gaggagccac cgctgatggg caacggctgg gctgggggtg
     1141 ggccccggcc tccgcgtaag gaggtggcca cctacttcag caaagtgtga ggtgtggcca
     1201 gctgaagagg caggaacggg gatctgagcc cacagcccct ccaaccccca aaccaggtgg
     1261 aaaaaggaag ggtttcagtg ctgggcagta ctcccctagg cagatccaca ctccctagca
     1321 ctcgcctgcc cattggaggc aggaaatttg gagctggaag gggatctgat gccttcaggt
     1381 gtgacactgc cctggatggc cctagggcag tgggcccatg agcagtatta gtctaaaggg
     1441 gtcggaactg tcatggcagg tacagggacc aatggctccc ctctgcccag cccttcccag
     1501 gctgatgttc actgtctcct cccaggttca acagacatcc ctgccccagg gtccaccctc
     1561 gtctgtggct gttcagtacc tctcttcctt tatgctccgg gctcggggag tgggaatcat
     1621 caggcgtctc atgaagtggg agccctctga tttgggcaag cgtgtcgtag gtgagactgg
     1681 gtgtgccggg gcaggtccat aaggacatga cacacagcct acctggtgtg acacacctgg
     1741 ggtgacaggc gatgagacaa gatgtcagaa gctaggttca catggaagag gtcagagtgt
     1801 gtggtcacca tgggggtcat gtgacaattg tccaggtgga ctgcatgttt atttagcaca
     1861 aaccaagcac aaaagtcctc ctgtagaggg gtctttgaaa aaccacctta atacccccgt
     1921 cacatccagg tctccagggg aaatcagacc atccccaagg cttgagaagt tagacacaga
     1981 agctgaagtc tctccatttt tctcaaagac cccacctctt ggggatggag ttctaagagg
     2041 ctaagaggag ctccaaggct ctagcccagg tgggatgagg gtggaggaga gcagtgtaaa
     2101 gagaaagcag ctcagattcc agagtgagac agaactgggt caaatggtgt ctctaccact
     2161 cacaaaccct gtccctgggc cagctgcatc actgcctgtg ccttcgtttc ttcatctata
     2221 caatgaggat gaggcccccc cggcccgcca tcatggggtt gctgtgtgta aaagcacatg
     2281 gcacatagta ggcacccagc acagggtggc taatgtattt gttgatttct gaacctaagg
     2341 acttccttcc tcctcccctg ggcagggatg agacagcaac acaaacactc gagcttccat
     2401 cttgttgagg aggaaacaga ggtacagata ggtttctcag caccgccctc agctctgaga
     2461 cataagtccc aagcatctaa ggattcattt tgatcttggc atgattccat ccttttttat
     2521 ccatccttcc ctctattccc acttctgggg tccagtttcc ctcctcttaa ttatttggga
     2581 ggagttgctc agatctttgt gggccaaggt gggctgggag ggctcttcca ggaggtagga
     2641 gttggtatgg gccctgaagt cagggaggat taggatgagc aaaaaacaag gtgtatgttg
     2701 gtgggtggca gcacttccag tgggaagaga aggcccggag gtatcaggag gtacaaatgt
     2761 gatgaagagc aaagctttgg gtcaggcaca cctgagttca aataccagca ctgcaggact
     2821 tgtggccagt cacccagcca ctctaagcct cagtgtgtct gtctataaaa tggatattag
     2881 aagacctgct tggccaggcg gagtggctca tgcctgtaat cccagcactt gggaggccaa
     2941 ggagggagga tcacttgagc ctgggagttg gagaccagcc tgggcaacat agcaagactc
     3001 tgtctctgta aagtaataat aataataaga agaagaagaa gaataaagag aagatttata
     3061 atttttttaa aatgaaaaaa ttatttttta aaaaagacct gattttcagg attgtggtaa
     3121 ggatagagga agataacttt tagggaagga tctgggactg tgtttagcac atgctgggat
     3181 ctgaaacaaa caaataaaca agcagaactt gg
//
