LOCUS       NM_021815               5167 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens solute carrier family 5 member 7 (SLC5A7), transcript
            variant 1, mRNA.
ACCESSION   NM_021815
VERSION     NM_021815.5
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 5167)
  AUTHORS   Muntadas,J.A., Hyland,M.R., Martinez,M.D.R.O., Young,J.N.,
            Chong,J.X., Bamshad,M.J. and Maselli,R.A.
  TITLE     Congenital myasthenic syndrome secondary to pathogenic variants in
            the SLC5A7 gene: report of two cases
  JOURNAL   BMC Med Genomics 17 (1), 207 (2024)
   PUBMED   39135055
  REMARK    GeneRIF: Congenital myasthenic syndrome secondary to pathogenic
            variants in the SLC5A7 gene: report of two cases.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5167)
  AUTHORS   Tian,S., Sun,H., Gao,F.F., Zhang,K., Nan,J., Niu,M., Jia,X., Xu,G.
            and Ge,W.
  TITLE     Genetic analysis of a family affected by congenital myasthenic
            syndrome due to a Novel mutation in the SLC5A7 gene
  JOURNAL   BMC Neurol 24 (1), 206 (2024)
   PUBMED   38886633
  REMARK    GeneRIF: Genetic analysis of a family affected by congenital
            myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5167)
  AUTHORS   Black,S.A. and Rylett,R.J.
  TITLE     Choline transporter CHT regulation and function in cholinergic
            neurons
  JOURNAL   Cent Nerv Syst Agents Med Chem 12 (2), 114-121 (2012)
   PUBMED   22483273
  REMARK    GeneRIF: [review] The critical role of CHT in maintaining
            cholinergic transmission indicates that it could be a target for
            therapeutic intervention to promote acetylcholine synthesis, the
            accomplishment of which has not been adequately addressed.
            Review article
REFERENCE   4  (bases 1 to 5167)
  AUTHORS   Ribeiro,F.M., Alves-Silva,J., Volknandt,W., Martins-Silva,C.,
            Mahmud,H., Wilhelm,A., Gomez,M.V., Rylett,R.J., Ferguson,S.S.,
            Prado,V.F. and Prado,M.A.
  TITLE     The hemicholinium-3 sensitive high affinity choline transporter is
            internalized by clathrin-mediated endocytosis and is present in
            endosomes and synaptic vesicles
  JOURNAL   J Neurochem 87 (1), 136-146 (2003)
   PUBMED   12969261
REFERENCE   5  (bases 1 to 5167)
  AUTHORS   Okuda,T., Okamura,M., Kaitsuka,C., Haga,T. and Gurwitz,D.
  TITLE     Single nucleotide polymorphism of the human high affinity choline
            transporter alters transport rate
  JOURNAL   J Biol Chem 277 (47), 45315-45322 (2002)
   PUBMED   12237312
  REMARK    GeneRIF: Results describe the identification and functional
            characterization of a single nucleotide polymorphism in the high
            affinity choline transporter (CHT1) gene.
REFERENCE   6  (bases 1 to 5167)
  AUTHORS   Haberberger,R.V., Pfeil,U., Lips,K.S. and Kummer,W.
  TITLE     Expression of the high-affinity choline transporter, CHT1, in the
            neuronal and non-neuronal cholinergic system of human and rat skin
  JOURNAL   J Invest Dermatol 119 (4), 943-948 (2002)
   PUBMED   12406342
  REMARK    GeneRIF: high-affinity choline transporter, choline transporter 1,
            in nerve fibers and epithelial cells in the human and rat skin
            supporting the pivotal role of this transporter in both the
            neuronal and non-neuronal cholinergic system of the skin.
REFERENCE   7  (bases 1 to 5167)
  AUTHORS   McEntagart,M., Norton,N., Williams,H., Teare,M.D., Dunstan,M.,
            Baker,P., Houlden,H., Reilly,M., Wood,N., Harper,P.S.,
            Futreal,P.A., Williams,N. and Rahman,N.
  TITLE     Localization of the gene for distal hereditary motor neuronopathy
            VII (dHMN-VII) to chromosome 2q14
  JOURNAL   Am J Hum Genet 68 (5), 1270-1276 (2001)
   PUBMED   11294660
REFERENCE   8  (bases 1 to 5167)
  AUTHORS   Okuda,T. and Haga,T.
  TITLE     Functional characterization of the human high-affinity choline
            transporter
  JOURNAL   FEBS Lett 484 (2), 92-97 (2000)
   PUBMED   11068039
REFERENCE   9  (bases 1 to 5167)
  AUTHORS   Apparsundaram,S., Ferguson,S.M., George,A.L. Jr. and Blakely,R.D.
  TITLE     Molecular cloning of a human, hemicholinium-3-sensitive choline
            transporter
  JOURNAL   Biochem Biophys Res Commun 276 (3), 862-867 (2000)
   PUBMED   11027560
REFERENCE   10 (bases 1 to 5167)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA714970.1, BC111525.1 and
            AC009963.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_021815.4.
            
            Summary: This gene encodes a sodium ion- and chloride ion-dependent
            high-affinity transporter that mediates choline uptake for
            acetylcholine synthesis in cholinergic neurons. The protein
            transports choline from the extracellular space into presynaptic
            terminals for synthesis into acetylcholine. Increased choline
            uptake results from increased density of this protein in
            synaptosomal plasma membranes in response to depolarization of
            cholinergic terminals. Dysfunction of cholinergic signaling has
            been implicated in various disorders including depression,
            attention-deficit disorder, and schizophrenia. An allelic variant
            of this gene is associated with autosomal dominant distal
            hereditary motor neuronopathy type VIIA. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jul
            2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AB043997.1, BC111525.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264047.3/ ENSP00000264047.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                DA714970.1         12-54
            44-2626             BC111525.1         1-2583
            2627-5167           AC009963.11        178034-180574
FEATURES             Location/Qualifiers
     source          1..5167
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.3"
     gene            1..5167
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="solute carrier family 5 member 7"
                     /db_xref="GeneID:60482"
                     /db_xref="HGNC:HGNC:14025"
                     /db_xref="MIM:608761"
     exon            1..240
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            241..469
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     CDS             292..2034
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="isoform a is encoded by transcript variant 1; high
                     affinity choline transporter; hemicholinium-3-sensitive
                     choline transporter; high affinity choline transporter 1;
                     solute carrier family 5 (sodium/choline cotransporter),
                     member 7; Motor neuronopathy, distal hereditary, with
                     vocal cord paresis; Motor neuronopathy, distal hereditary,
                     type VIIA"
                     /codon_start=1
                     /product="high affinity choline transporter 1 isoform a"
                     /protein_id="NP_068587.1"
                     /db_xref="CCDS:CCDS2074.1"
                     /db_xref="GeneID:60482"
                     /db_xref="HGNC:HGNC:14025"
                     /db_xref="MIM:608761"
                     /translation="MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIV
                     GGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFF
                     AKPMRSKGYVTMLDPFQQIYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVD
                     MHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFT
                     AVHAKYQKPWLGTVDSSEVYSWLDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFL
                     AAFGCLVMAIPAILIGAIGASTDWNQTAYGLPDPKTTEEADMILPIVLQYLCPVYISF
                     FGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASA
                     TAMALLTKTVYGLWYLSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGG
                     EPYLYLQPLIFYPGYYPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLP
                     PKLDVFDAVVARHSEENMDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDV
                     DSSPEGSGTEDNLQ"
     exon            470..583
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            584..739
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            740..888
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1032
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1186
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1404
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..5167
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5149..5154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="hexamer: ATTATA"
     polyA_site      5167
                     /gene="SLC5A7"
                     /gene_synonym="CHT; CHT1; CMS20; DHMNVP; hCHT1; HMN7A;
                     HMND7"
                     /note="major polyA site"
ORIGIN      
        1 gattcccacc tcgccctgcg ccgcgcgccc tccgccggcg ccaacacctg tcaactctgc
       61 gcgctcccag gttcttggag acgccgagtg aggagccgcc ctgaccgccc ggccccgctc
      121 cgcactgcac cccgacccac cccgcaccct ccctttctgc accctcgcac ccacacccct
      181 cgcggttcca gggggcggcg gccccgggcg gagcgctttc gcgtgcagcc accactccag
      241 aagacttaat gaagtagcca gctgcagaag aatctggatc attagataaa aatggctttc
      301 catgtggaag gactgatagc tatcatcgtg ttctaccttc taattttgct ggttggaata
      361 tgggctgcct ggagaaccaa aaacagtggc agcgcagaag agcgcagcga agccatcata
      421 gttggtggcc gagatattgg tttattggtt ggtggattta ccatgacagc tacctgggtc
      481 ggaggagggt atatcaatgg cacagctgaa gcagtttatg taccaggtta tggcctagct
      541 tgggctcagg caccaattgg atattctctt agtctgattt taggtggcct gttctttgca
      601 aaacctatgc gttcaaaggg gtatgtgacc atgttagacc cgtttcagca aatctatgga
      661 aaacgcatgg gcggactcct gtttattcct gcactgatgg gagaaatgtt ctgggctgca
      721 gcaattttct ctgctttggg agccaccatc agcgtgatca tcgatgtgga tatgcacatt
      781 tctgtcatca tctctgcact cattgccact ctgtacacac tggtgggagg gctctattct
      841 gtggcctaca ctgatgtcgt tcagctcttt tgcatttttg tagggctgtg gatcagcgtc
      901 ccctttgcat tgtcacatcc tgcagtcgca gacatcgggt tcactgctgt gcatgccaaa
      961 taccaaaagc cgtggctggg aactgttgac tcatctgaag tctactcttg gcttgatagt
     1021 tttctgttgt tgatgctggg tggaatccca tggcaagcat actttcagag ggttctctct
     1081 tcttcctcag ccacctatgc tcaagtgctg tccttcctgg cagctttcgg gtgcctggtg
     1141 atggccatcc cagccatact cattggggcc attggagcat caacagactg gaaccagact
     1201 gcatatgggc ttccagatcc caagactaca gaagaggcag acatgatttt accaattgtt
     1261 ctgcagtatc tctgccctgt gtatatttct ttctttggtc ttggtgcagt ttctgctgct
     1321 gttatgtcat cagcagattc ttccatcttg tcagcaagtt ccatgtttgc acggaacatc
     1381 taccagcttt ccttcagaca aaatgcttcg gacaaagaaa tcgtttgggt tatgcgaatc
     1441 acagtgtttg tgtttggagc atctgcaaca gccatggcct tgctgacgaa aactgtgtat
     1501 gggctctggt acctcagttc tgaccttgtt tacatcgtta tcttccccca gctgctttgt
     1561 gtactctttg ttaagggaac caacacctat ggggccgtgg caggttatgt ttctggcctc
     1621 ttcctgagaa taactggagg ggagccatat ctgtatcttc agcccttgat cttctaccct
     1681 ggctattacc ctgatgataa tggtatatat aatcagaaat ttccatttaa aacacttgcc
     1741 atggttacat cattcttaac caacatttgc atctcctatc tagccaagta tctatttgaa
     1801 agtggaacct tgccacctaa attagatgta tttgatgctg ttgttgcaag acacagtgaa
     1861 gaaaacatgg ataagacaat tcttgtcaaa aatgaaaata ttaaattaga tgaacttgca
     1921 cttgtgaagc cacgacagag catgaccctc agctcaactt tcaccaataa agaggccttc
     1981 cttgatgttg attccagtcc agaagggtct gggactgaag ataatttaca gtgaccccat
     2041 ctaaataaaa tactgctttt gcaaacagaa cactgtaata gggtagttct ggagagatgg
     2101 tatgcagcat acaaaaatat attaaaaata taaacaatgt tcaggagagt aaaaattcat
     2161 ataaagtgca attgcacaaa tacaagccaa gctagaagga agcacctatg aaagcaacaa
     2221 ctttgtttct catccatagt agtattgatt ttgatgctag atagttttgc taggtataaa
     2281 aaataagtaa agttccactt agagaacaaa gggccaaata gagtttttat atttgttatg
     2341 ataaaaggaa gtagatgtga aaaagcctaa gaaaaaggaa attggacagt tttgatacaa
     2401 actttgtttg ctaatgcact gatgagtcta gtttcattat agcacgaagc tatgagaata
     2461 acttcagtca ctcccttgaa tggtgcaatg aattaaccag ctgatttttc ttagtgtgat
     2521 gattaacccc ttctttcatg ttctgagcta taacatttgc tgaatatgca atttgttatt
     2581 cttttattaa tggcatgtaa tattctgagc acgggcaaag aaaacacaca aaagattatg
     2641 tattggcatt tatttatgtg caaggtgata ggaaaactga atccatcttt gtagaagagc
     2701 actgggctaa tttgtatgtt tccatagcta ctatatgcat aaacaacagt acctgaagga
     2761 ttattaagca accttaaagc aataagttca ttaaacagaa ggtaatagga agaacagtac
     2821 atttttgtct ttatctcaag tatataaagt tttgccccat gataaaataa gtaacatata
     2881 aattaataca taagttaata ttggaagtga aattaggcct tatgtaagga gaggtagcta
     2941 cacagcatct gttacggtta atgagaggca cactgctaaa tttacgtata tttcattgaa
     3001 tactttatgg gaagcctcca caacacctcc tgatagtagt aaaattagaa aaaaacaaac
     3061 tctactaatt tttagatatt cattaatagg aaagatttaa tgttacagca tctactcttt
     3121 ggcacttttt cacataagcc agccttagag actagacaaa taactactgc aaaaagtaca
     3181 tagtgaattt taaaatgtag aagaaagcaa aaaataaaat aagtcctaaa gtgaagaagc
     3241 catcaatttt aacatttgat gtctagataa cattcatgag attggtcatt aaatactatt
     3301 ttgctccttt tctggtgtta cacatacaca ctcatacgtg tgtgtgtgtg tatgtgtgtg
     3361 tgtgtatgtg taatgatttg tgtccatttc aagtgttttc acaccagtca cacattatag
     3421 aaattactgg agccatgtct acaaaagcaa agtgaagtga tgagctgaaa agtgatcagg
     3481 gaatctgatc ccataaagaa agtgagtctg aattgttgaa actaaagcac ttcttttcca
     3541 aaaatacttc tgcaactcat gaacaaaatg aagttaactt agtgtttagc attaaaaata
     3601 aaagttgtac cttgacccta gaattccttt tataagattt aattgtaatt gtctcaaagc
     3661 atcaaataat acatctttat cattaaacat gaatttaatg tctaggataa tttttaaaag
     3721 aggaaattaa ataattttac atgtctcata ttttcagtgc tttctcaaaa tttgatggtg
     3781 aatattacat tgcattcaaa atcttcactg aatatcatat gtatctaaat gaaaagagaa
     3841 ttacttatat tcatctattt tctcagaatc tattcagtac cctatggagt acatggaaga
     3901 agtatatttt tggaaccagt aagtatggga gtccacgatt ctcaggtatt gattgaaaaa
     3961 agagaaaggg gcaagaaatt cattaaagaa aaaccacaga tactgaaaca tttgacacat
     4021 aaaagtaatt aattgctgga gactacaatt cctggcaaac accattattc cagatgcacc
     4081 atgctaccca gcatgctacc tgaatggcgg tttttatcca tcctgtcacc ctgagcatct
     4141 gtctcaacct gctgaggcac agacttccac catgtgcatc aggaaacacc tcactcatac
     4201 tgtcatataa tgcaacaggg aggcatagtc tctctacagg tctctctctt tacgttgtac
     4261 cattctgttg ggcaacaatt gtcccaacaa ccacacttaa atccagtggg gaaaaaaagg
     4321 ttaacagtaa aaatttcttc cacgtaattc aatttctcac aatagacaga aacaggggga
     4381 aaatgtttgc cctgttcaaa gtactaaaac tagataactt aaataattta agccaataaa
     4441 taatattata ttgtatttaa cccattattc ctcacctacc ctcaaagtag gtatacaaaa
     4501 gactagtttg ttattaatcc acaaatatgc taaatgttag caagatgatt tttaagtaca
     4561 aaaaagttta agattgcaag gaaggaaaca atggtcacaa ggtctttact tatgcacatt
     4621 tgtgcataaa tttccaccca atttccaaga cagttgtatc acaaagctgt gaaatgtgca
     4681 agagtatact ttgtacccat catgtgctct gttttgacat aatgagtaat gcagacattt
     4741 acatgttctt ccagcttcaa tcagtagacc tgattttcaa aatctgccct cagatgaaaa
     4801 taaaataaac gaaacattta gacaatggct atattaatct gggaaggcaa cacctgtgga
     4861 taaaacatta gaagaaaaca tatattttat tttcatactt ttgatatgat tgtaacatat
     4921 ttcttgagta atttaaatgc tttgttttcc cacacatatt caaatcagca agcttgtagc
     4981 tggactgcaa tatcaacaac aagttgtttc aaacagcatc aaaatacaac ttcattgcta
     5041 cacttacaag taatgaattt tatgtgacta tgaaacgaat ataagcttaa aataagtgaa
     5101 tctaataaaa tggctattcc tctttttact tggaaataat aaattaacat tatattttaa
     5161 acataaa
//
