LOCUS       NM_005629               3931 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript
            variant 1, mRNA.
ACCESSION   NM_005629
VERSION     NM_005629.4
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 3931)
  AUTHORS   Kuempers,C., Schnepf,K., Marwitz,S., Watermann,C., Scheel,A.H.,
            Fischer,R.N., Ammerpohl,O., Perner,S., Dromann,D. and Goldmann,T.
  TITLE     Upregulation and epigenetic modification of the creatine
            transporter SLC6A8 in non-small cell lung cancer
  JOURNAL   Histol Histopathol 39 (7), 867-876 (2024)
   PUBMED   38529720
  REMARK    GeneRIF: Upregulation and epigenetic modification of the creatine
            transporter SLC6A8 in non-small cell lung cancer.
REFERENCE   2  (bases 1 to 3931)
  AUTHORS   Goldstein,J., Thomas-Wilson,A., Groopman,E., Aggarwal,V.,
            Bianconi,S., Fernandez,R., Hart,K., Longo,N., Liang,N., Reich,D.,
            Wallis,H., Weaver,M., Young,S. and Mercimek-Andrews,S.
  TITLE     ClinGen variant curation expert panel recommendations for
            classification of variants in GAMT, GATM and SLC6A8 for cerebral
            creatine deficiency syndromes
  JOURNAL   Mol Genet Metab 142 (1), 108362 (2024)
   PUBMED   38452609
  REMARK    GeneRIF: ClinGen variant curation expert panel recommendations for
            classification of variants in GAMT, GATM and SLC6A8 for cerebral
            creatine deficiency syndromes.
REFERENCE   3  (bases 1 to 3931)
  AUTHORS   Curie,A., Lion-Francois,L., Valayannopoulos,V., Perreton,N.,
            Gavanon,M., Touil,N., Brun-Laurisse,A., Gheurbi,F., Buchy,M.,
            Halep,H., Cheillan,D., Mercier,C., Brassier,A., Desnous,B.,
            Kassai,B., De Lonlay,P. and Des Portes,V.
  TITLE     Clinical Characteristics, Developmental Trajectory, and Caregiver
            Burden of Patients With Creatine Transporter Deficiency (SLC6A8)
  JOURNAL   Neurology 102 (8), e209243 (2024)
   PUBMED   38531017
  REMARK    GeneRIF: Clinical Characteristics, Developmental Trajectory, and
            Caregiver Burden of Patients With Creatine Transporter Deficiency
            (SLC6A8).
REFERENCE   4  (bases 1 to 3931)
  AUTHORS   Abdennadher,M., Inati,S.K., Rahhal,S., Khan,O., Bartolini,L.,
            Thurm,A., Theodore,W., Miller,J.S., Porter,F.D. and Bianconi,S.
  TITLE     Characterization of seizures and EEG findings in creatine
            transporter deficiency due to SLC6A8 mutation
  JOURNAL   Am J Med Genet A 194 (2), 337-345 (2024)
   PUBMED   37850681
  REMARK    GeneRIF: Characterization of seizures and EEG findings in creatine
            transporter deficiency due to SLC6A8 mutation.
REFERENCE   5  (bases 1 to 3931)
  AUTHORS   Barnwell,L.F., Chaudhuri,G. and Townsel,J.G.
  TITLE     Cloning and sequencing of a cDNA encoding a novel member of the
            human brain GABA/noradrenaline neurotransmitter transporter family
  JOURNAL   Gene 159 (2), 287-288 (1995)
   PUBMED   7622069
REFERENCE   6  (bases 1 to 3931)
  AUTHORS   Gregor,P., Nash,S.R., Caron,M.G., Seldin,M.F. and Warren,S.T.
  TITLE     Assignment of the creatine transporter gene (SLC6A8) to human
            chromosome Xq28 telomeric to G6PD
  JOURNAL   Genomics 25 (1), 332-333 (1995)
   PUBMED   7774949
REFERENCE   7  (bases 1 to 3931)
  AUTHORS   Sora,I., Richman,J., Santoro,G., Wei,H., Wang,Y., Vanderah,T.,
            Horvath,R., Nguyen,M., Waite,S., Roeske,W.R. et al.
  TITLE     The cloning and expression of a human creatine transporter
  JOURNAL   Biochem Biophys Res Commun 204 (1), 419-427 (1994)
   PUBMED   7945388
REFERENCE   8  (bases 1 to 3931)
  AUTHORS   Nash,S.R., Giros,B., Kingsmore,S.F., Rochelle,J.M., Suter,S.T.,
            Gregor,P., Seldin,M.F. and Caron,M.G.
  TITLE     Cloning, pharmacological characterization, and genomic localization
            of the human creatine transporter
  JOURNAL   Recept Channels 2 (2), 165-174 (1994)
   PUBMED   7953292
REFERENCE   9  (bases 1 to 3931)
  AUTHORS   Mercimek-Andrews,S. and Salomons,G.S.
  TITLE     Creatine Deficiency Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301745
REFERENCE   10 (bases 1 to 3931)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52111.3, BC081558.1, L31409.1,
            CX788315.1 and BE207407.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005629.3.
            
            Summary: The protein encoded by this gene is a plasma membrane
            protein whose function is to transport creatine into and out of
            cells. Defects in this gene can result in X-linked creatine
            deficiency syndrome. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: L31409.1, BC081558.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253122.10/ ENSP00000253122.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-371               U52111.3           71135-71505
            372-507             BC081558.1         1-136
            508-644             L31409.1           332-468
            645-645             U52111.3           71779-71779
            646-1501            L31409.1           470-1325
            1502-1949           BC081558.1         1132-1579
            1950-2810           L31409.1           1774-2634
            2811-3563           CX788315.1         74-826
            3564-3931           BE207407.1         5-372               c
FEATURES             Location/Qualifiers
     source          1..3931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3931
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="solute carrier family 6 member 8"
                     /db_xref="GeneID:6535"
                     /db_xref="HGNC:HGNC:11055"
                     /db_xref="MIM:300036"
     exon            1..911
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             650..2557
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium- and chloride-dependent creatine transporter 1;
                     solute carrier family 6 (neurotransmitter transporter,
                     creatine), member 8; solute carrier family 6
                     (neurotransmitter transporter), member 8"
                     /codon_start=1
                     /product="sodium- and chloride-dependent creatine
                     transporter 1 isoform 1"
                     /protein_id="NP_005620.1"
                     /db_xref="CCDS:CCDS14726.1"
                     /db_xref="GeneID:6535"
                     /db_xref="HGNC:HGNC:11055"
                     /db_xref="MIM:300036"
                     /translation="MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPG
                     GRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGG
                     IPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLV
                     KSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKV
                     LRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLL
                     VRGVLLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN
                     NNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRA
                     VTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLLPASYYFRFQREISVALC
                     CALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIA
                     CMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAMGWAFAL
                     SSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSE
                     SSKVVVVESVM"
     exon            912..1043
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1293
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1426
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1561
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1665
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..1790
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..1903
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..2041
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2042..2144
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2145..2245
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2246..2416
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..3931
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2727..2732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="hexamer: AATAAA"
     polyA_site      2750
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="major polyA site"
     regulatory      3275..3280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="hexamer: TATAAA"
     polyA_site      3297
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
     regulatory      3908..3913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
                     /note="hexamer: AATAAA"
     polyA_site      3931
                     /gene="SLC6A8"
                     /gene_synonym="CCDS1; CRT; CRT-1; CRT1; CRTR; CT1; CTR5"
ORIGIN      
        1 gaagagaggg atagtcggag cgaggtggcg agtcgctgag cccgccgcgg ccccgagagc
       61 ggctgcagcc gccgccgccg ggaaggagag ggcgaggcgc gcccgagccg ccgccgccgc
      121 cgccaccgcc gccgccgcca ccaccgccac cggagtcgcg ggccagccgg gcagcctccg
      181 cgggccccgg ccggggcggg gggcgcgggc cacaggcccc tgctccggcc gccgcttgca
      241 gaccgcgggc gccgatgtcg cccgcgcccc gctaggctga gcctcgggtc gggcgaggag
      301 ccgccgcagc cgccgccgcc cgagccgcgg gcaggagcct cgggagccgc cgccgccgcc
      361 gccgccgccc ggccgggccc cgccgccgcc cgcgcgcccc cgggcccccg acacacatga
      421 gattcttcag gctcactttc aagtgcttcg tggactgctt ctgactgcgc cgcccgcgcc
      481 ccgcaccccg ccgcccgccc gccgccccgt cccccggccc ggccgccccc cggcccccgg
      541 ccggcccgcg ccctcggggc cctccccggt gccgccggtg ccccccgcct gaccgccgcc
      601 ccccgtgagg cgccgcgacc ccggcccggc cgtgcggccc gccgaggcca tggcgaagaa
      661 gagcgccgag aacggcatct atagcgtgtc cggcgacgag aagaagggcc ccctcatcgc
      721 gcccgggccc gacggggccc cggccaaggg cgacggcccc gtgggcctgg ggacacccgg
      781 cggccgcctg gccgtgccgc cgcgcgagac ctggacgcgc cagatggact tcatcatgtc
      841 gtgcgtgggc ttcgccgtgg gcttgggcaa cgtgtggcgc ttcccctacc tgtgctacaa
      901 gaacggcgga ggtgtgttcc ttattcccta cgtcctgatc gccctggttg gaggaatccc
      961 cattttcttc ttagagatct cgctgggcca gttcatgaag gccggcagca tcaatgtctg
     1021 gaacatctgt cccctgttca aaggcctggg ctacgcctcc atggtgatcg tcttctactg
     1081 caacacctac tacatcatgg tgctggcctg gggcttctat tacctggtca agtcctttac
     1141 caccacgctg ccctgggcca catgtggcca cacctggaac actcccgact gcgtggagat
     1201 cttccgccat gaagactgtg ccaatgccag cctggccaac ctcacctgtg accagcttgc
     1261 tgaccgccgg tcccctgtca tcgagttctg ggagaacaaa gtcttgaggc tgtctggggg
     1321 actggaggtg ccaggggccc tcaactggga ggtgaccctt tgtctgctgg cctgctgggt
     1381 gctggtctac ttctgtgtct ggaagggggt caaatccacg ggaaagatcg tgtacttcac
     1441 tgctacattc ccctacgtgg tcctggtcgt gctgctggtg cgtggagtgc tgctgcctgg
     1501 cgccctggat ggcatcattt actatctcaa gcctgactgg tcaaagctgg ggtcccctca
     1561 ggtgtggata gatgcgggga cccagatttt cttttcttac gccattggcc tgggggccct
     1621 cacagccctg ggcagctaca accgcttcaa caacaactgc tacaaggacg ccatcatcct
     1681 ggctctcatc aacagtggga ccagcttctt tgctggcttc gtggtcttct ccatcctggg
     1741 cttcatggct gcagagcagg gcgtgcacat ctccaaggtg gcagagtcag ggccgggcct
     1801 ggccttcatc gcctacccgc gggctgtcac gctgatgcca gtggccccac tctgggctgc
     1861 cctgttcttc ttcatgctgt tgctgcttgg tctcgacagc cagtttgtag gtgtggaggg
     1921 cttcatcacc ggcctcctcg acctcctccc ggcctcctac tacttccgtt tccaaaggga
     1981 gatctctgtg gccctctgtt gtgccctctg ctttgtcatc gatctctcca tggtgactga
     2041 tggcgggatg tacgtcttcc agctgtttga ctactactcg gccagcggca ccaccctgct
     2101 ctggcaggcc ttttgggagt gcgtggtggt ggcctgggtg tacggagctg accgcttcat
     2161 ggacgacatt gcctgtatga tcgggtaccg accttgcccc tggatgaaat ggtgctggtc
     2221 cttcttcacc ccgctggtct gcatgggcat cttcatcttc aacgttgtgt actacgagcc
     2281 gctggtctac aacaacacct acgtgtaccc gtggtggggt gaggccatgg gctgggcctt
     2341 cgccctgtcc tccatgctgt gcgtgccgct gcacctcctg ggctgcctcc tcagggccaa
     2401 gggcaccatg gctgagcgct ggcagcacct gacccagccc atctggggcc tccaccactt
     2461 ggagtaccga gctcaggacg cagatgtcag gggcctgacc accctgaccc cagtgtccga
     2521 gagcagcaag gtcgtcgtgg tggagagtgt catgtgacaa ctcagctcac atcaccagct
     2581 cacctctggt agccatagca gcccctgctt cagccccacc gcacccctcc agggggcctg
     2641 cctttccctg acacttttgg ggtctgcctg ggggaggagg ggagaaagca ccatgagtgc
     2701 tcactaaaac aactttttcc atttttaata aaacgccaaa aatatcacaa cccaccaaaa
     2761 atagatgcct ctccccctcc agccctagcc gagctggtcc taggccccgc ctagtgcccc
     2821 acccccaccc acagtgctgc actcctcctg cccctgccac gcccaccccc tgcccacctc
     2881 tccaggctct gctctgcagc acacccgtgg gtgacccctc accccagaag cagcagtggc
     2941 agcttgggaa atgtgaggaa gggaaggagg gagagacggg agggaggaga gagaggagaa
     3001 gggaggcagg ggaggggcag cagaaccaag gcaaatattt cagctgggct atacccctct
     3061 ccccatccct gttatagaag cttagagagc cagccagcaa tggaaccttc tggttcctgc
     3121 gccaatcgcc accagtatca attgtgtgag cttgggtgcg agtgcacgcg tgcgtgagta
     3181 cggagagtat atatagatct ctatctctta gcaaaggtga atgccagatg taaatggcgc
     3241 ctctgggcaa aggaggcttg tattttgcac attttataaa aacttgagag aatgagattt
     3301 ctgcttgtat atttctaaaa agaggaagga gcccaaacca tcctctcctt accactccca
     3361 tccctgtgag ccctacctta cccctctgcc cctagccaag gagtgtgaat ttatagatct
     3421 aactttcata ggcaaaacaa aagcttcgag ctgttgcgtg tgtgagtctg ttgtgtggat
     3481 gtgcgtgtgt ggtccccagc cccagactgg attggaaaag tgcatggtgg gggcctcggg
     3541 gctgtcccca cgctgtccct ttgccacaag tctgtggggc aagaggctgc aatattccgt
     3601 cctgggtgtc tgggctgcta acctggcctg ctcaggcttc ccaccctgtg cggggcacac
     3661 ccccaggaag ggaccctgga cacggctccc acgtccaggc ttaaggtgga tgcacttccc
     3721 gcacctccag tcttctgtgt agcagcttta acccacgttt gtctgtcacg tccagtcccg
     3781 agacggctga gtgaccccaa gaaaggcttc cccgacaccc agacagaggc tgcagggctg
     3841 gggctgggtg agggtggcgg gcctgcgggg acattctact gtgctaaaaa gccactgcag
     3901 acatagcaat aaaaacatgt cattttccaa a
//
