LOCUS       NM_014228               3625 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens solute carrier family 6 member 7 (SLC6A7), mRNA.
ACCESSION   NM_014228
VERSION     NM_014228.5
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 3625)
  AUTHORS   Kim,J.H., Cheong,H.S., Park,B.L., Bae,J.S., Jung,S., Yoon,S.H.,
            Park,J.S., Jang,A.S., Park,S.W., Uh,S.T., Kim,Y.H., Hwang,H.K.,
            Park,C.S. and Shin,H.D.
  TITLE     A new association between polymorphisms of the SLC6A7 gene in the
            chromosome 5q31-32 region and asthma
  JOURNAL   J Hum Genet 55 (6), 358-365 (2010)
   PUBMED   20431603
  REMARK    GeneRIF: these findings suggest that SLC6A7 could be a susceptible
            gene for asthma.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 3625)
  AUTHORS   Yokoyama,K., Urashima,M., Ohkido,I., Kono,T., Yoshida,T.,
            Muramatsu,M., Niu,T. and Hosoya,T.
  TITLE     L-type voltage-dependent calcium channel alpha subunit 1C is a
            novel candidate gene associated with secondary hyperparathyroidism:
            an application of haplotype-based analysis for multiple linked
            single nucleotide polymorphisms
  JOURNAL   Nephron Clin Pract 115 (4), c237-c243 (2010)
   PUBMED   20424473
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 3625)
  AUTHORS   Tabakoff,B., Saba,L., Printz,M., Flodman,P., Hodgkinson,C.,
            Goldman,D., Koob,G., Richardson,H.N., Kechris,K., Bell,R.L.,
            Hubner,N., Heinig,M., Pravenec,M., Mangion,J., Legault,L.,
            Dongier,M., Conigrave,K.M., Whitfield,J.B., Saunders,J., Grant,B.
            and Hoffman,P.L.
  CONSRTM   WHO/ISBRA Study on State and Trait Markers of Alcoholism
  TITLE     Genetical genomic determinants of alcohol consumption in rats and
            humans
  JOURNAL   BMC Biol 7, 70 (2009)
   PUBMED   19874574
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3625)
  AUTHORS   Shafqat,S., Velaz-Faircloth,M., Henzi,V.A., Whitney,K.D.,
            Yang-Feng,T.L., Seldin,M.F. and Fremeau,R.T. Jr.
  TITLE     Human brain-specific L-proline transporter: molecular cloning,
            functional expression, and chromosomal localization of the gene in
            human and mouse genomes
  JOURNAL   Mol Pharmacol 48 (2), 219-229 (1995)
   PUBMED   7651355
REFERENCE   5  (bases 1 to 3625)
  AUTHORS   Velaz-Faircloth,M., Guadano-Ferraz,A., Henzi,V.A. and Fremeau,R.T.
            Jr.
  TITLE     Mammalian brain-specific L-proline transporter. Neuronal
            localization of mRNA and enrichment of transporter protein in
            synaptic plasma membranes
  JOURNAL   J Biol Chem 270 (26), 15755-15761 (1995)
   PUBMED   7797577
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK096607.1, BC069631.1, AC005895.1 and BM682856.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014228.4.
            
            Summary: This gene is a member of the gamma-aminobutyric acid
            (GABA) neurotransmitter gene family and encodes a high-affinity
            mammalian brain L-proline transporter protein. This transporter
            protein differs from other sodium-dependent plasma membrane
            carriers by its pharmacological specificity, kinetic properties,
            and ionic requirements. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript matching the
            genomic sequence was available for the full length of the gene. The
            extent of this transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096607.1, SRR1803614.50508.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000230671.7/
                                                ENSP00000230671.2
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-266               AK096607.1         106-371
            267-1805            BC069631.1         1-1539
            1806-1806           AC005895.1         73862-73862
            1807-2177           BC069631.1         1541-1911
            2178-3576           AC005895.1         78016-79414
            3577-3625           BM682856.1         27-75               c
FEATURES             Location/Qualifiers
     source          1..3625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..3625
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /note="solute carrier family 6 member 7"
                     /db_xref="GeneID:6534"
                     /db_xref="HGNC:HGNC:11054"
                     /db_xref="MIM:606205"
     exon            1..299
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     CDS             267..2177
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /note="brain-specific L-proline transporter; solute
                     carrier family 6 (neurotransmitter transporter,
                     L-proline), member 7"
                     /codon_start=1
                     /product="sodium-dependent proline transporter"
                     /protein_id="NP_055043.2"
                     /db_xref="CCDS:CCDS4305.1"
                     /db_xref="GeneID:6534"
                     /db_xref="HGNC:HGNC:11054"
                     /db_xref="MIM:606205"
                     /translation="MKKLQGAHLRKPVTPDLLMTPSDQGDVDLDVDFAAHRGNWTGKL
                     DFLLSCIGYCVGLGNVWRFPYRAYTNGGGAFLVPYFLMLAICGIPLFFLELSLGQFSS
                     LGPLAVWKISPLFKGAGAAMLLIVGLVAIYYNMIIAYVLFYLFASLTSDLPWEHCGNW
                     WNTELCLEHRVSKDGNGALPLNLTCTVSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLC
                     LCLLLAWVIVFLCILKGVKSSGKVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLT
                     PQFHHLLSSKVWIEAALQIFYSLGVGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITS
                     ILAGFAIFSVLGYMSQELGVPVDQVAKAGPGLAFVVYPQAMTMLPLSPFWSFLFFFML
                     LTLGLDSQFAFLETIVTAVTDEFPYYLRPKKAVFSGLICVAMYLMGLILTTDGGMYWL
                     VLLDDYSASFGLMVVVITTCLAVTRVYGIQRFCRDIHMMLGFKPGLYFRACWLFLSPA
                     TLLALMVYSIVKYQPSEYGSYRFPPWAELLGILMGLLSCLMIPAGMLVAVLREEGSLW
                     ERLQQASRPAMDWGPSLEENRTGMYVATLAGSQSPKPLMVHMRKYGGITSFENTAIEV
                     DREIAEEEESMM"
     exon            300..483
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            484..615
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            616..850
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            851..989
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1124
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1228
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1353
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1466
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1598
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1698
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1799
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1967
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..3625
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3605..3610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /note="hexamer: AATAAA"
     polyA_site      3625
                     /gene="SLC6A7"
                     /gene_synonym="PROT"
                     /note="major polyA site"
ORIGIN      
        1 gtcagctgtc tgtctgggtg tctatgcggg cgcagcagtg cacccttccc cagcctcggg
       61 cgctgcgcag ggacagacaa ggcattcgca gcgccctgcc cgcgctccac gcccgcagcc
      121 gccagacggc agcgcctgcg tccgtgcccg ccccagccgg tgcgcgggag ccgcgggggc
      181 aaaggcgcag tggccagcgg accatctctc gtgccctcgc tctctgcgct ccggggcagc
      241 tgagccccgg ccacccgctc tccaagatga agaagctcca gggagctcac ctccgcaagc
      301 ctgtcacccc agacctgctg atgaccccca gtgaccaggg cgatgtcgac ctggatgtgg
      361 actttgctgc acaccggggg aactggacag gcaagctgga cttcctgctg tcctgcattg
      421 gctactgtgt aggcctgggg aatgtctggc gcttccccta tcgagcgtac accaatggag
      481 gaggcgcctt cctcgtgccc tacttcctca tgctggccat ctgtggcatc cccctcttct
      541 tcctggagct ctccctgggc cagttctcca gcctagggcc cctggctgtc tggaaaatca
      601 gccctctctt caaaggcgcc ggcgcagcca tgctgctcat cgtgggcttg gtggccatct
      661 actacaacat gatcatcgcc tacgtgctct tctacctctt cgcctccctc accagcgacc
      721 taccctggga gcactgtggc aactggtgga acacagaact ctgcctggag cacagagtct
      781 ccaaggacgg caacggggcc ctgcccctca acctcacctg caccgtcagc cccagcgagg
      841 agtactggag ccgctacgtc ctccacatcc aaggcagcca gggcatcggc agccctgggg
      901 agatccgctg gaacctctgc ctctgcctgc tgctggcctg ggtcatcgtg ttcctctgta
      961 tcctcaaggg tgtgaagtct tcgggcaagg tggtgtattt cacggccacg ttcccctacc
     1021 tcatcctgct catgctgctg gtccgcggag tcaccctccc aggggcctgg aagggcatcc
     1081 agttctatct caccccccag ttccaccact tgttgtcttc caaggtgtgg attgaagctg
     1141 ctcttcagat cttctattcc ctgggtgtgg gcttcggggg gctcctcacc tttgcctcct
     1201 acaacacgtt tcaccagaac atctatagag acactttcat cgtcactctg ggcaacgcca
     1261 tcaccagcat cctggctggc tttgccatct tctccgtgct gggctacatg tctcaggagc
     1321 tgggcgtgcc tgtggaccaa gtagccaaag caggccctgg cctggccttt gtcgtctacc
     1381 cacaggccat gaccatgctg cctctgtcac ccttctggtc ctttctcttc ttcttcatgc
     1441 ttctgactct cggcctagat agccagtttg cttttctgga gaccattgtg acagctgtga
     1501 cagatgagtt cccatactac ctgcggccca agaaggcggt gttctcaggg ctcatctgcg
     1561 tggccatgta cctgatgggg ctgatcctca ccactgatgg gggcatgtac tggctggtcc
     1621 ttctggatga ctacagcgcc agcttcgggc tgatggtggt ggttatcacc acgtgccttg
     1681 ccgtgacacg ggtgtatggc attcagaggt tctgccgaga catccacatg atgctgggct
     1741 tcaagccggg cctctacttc agggcctgct ggctgttcct gtccccagcc acgctcttgg
     1801 ccctcatggt gtatagcatc gtcaagtacc agccctcgga gtatggcagt taccgcttcc
     1861 cgccctgggc tgagctgctg ggcatcctga tgggcctgct gtcctgcctc atgatcccag
     1921 ctggcatgct ggtggctgtg cttcgagaag agggctcact ctgggagcgg ctccaacagg
     1981 ccagccggcc ggccatggac tggggaccat cgctggagga gaaccggacg ggcatgtatg
     2041 tggccacgct ggctgggagc cagtcaccaa agccactgat ggtgcacatg cgcaagtacg
     2101 ggggcatcac cagcttcgag aacacggcca tcgaggtgga ccgtgagatt gcagaggagg
     2161 aggagtcgat gatgtgaggc aggaggcagg cgggcagaag gccctgcccg ggacctcaca
     2221 gtcccttctt agaagcctgc aaaggtcagc tgtgccctct gggattctga gaggctatgg
     2281 gggggcctgc catagggatg ccagtccccc agtgggggtc ccttctgcag cctctgcctc
     2341 tcctgaaacc tctgacaacc ccctacacac acacacaggc atactcagac ccactcaaag
     2401 ctgagaatga tccaactcag ccctactttg cggatggaca tattaaggcc aggaggggag
     2461 ggacttgccc caggtcgcat ggcagagggg acttgaaccc acgcctcctg accagccagc
     2521 tccctttccc atggggcagc cggcaccacc ttctcatctc tattcagggc ctacacccct
     2581 ccctttttgg ggggagcctg tccccacaca ccttagcaca accagaatct tgagttgggc
     2641 agggaaggtc agggctacag aggctcttga ggctccgagg ccctggggat caaaggtcaa
     2701 tgagttaggt ggggagaaag atccctgggg gctcctgtat gcaggactcc tgaaggaggt
     2761 gggagctgag ggccctggag gatggggaag gtttgcagag agaggaagaa gagggcaggg
     2821 tggggaggag ctctgggcca gaggatgctg agctgcctgg gcagagacca agagggttgg
     2881 agacactagt tttaccaggt tacaggaggg ttcaagacag aaggaaaact aacagagggg
     2941 gagccaggga tgatggggtg ggcaggggat ttgcatgatg aggagtatca ttccagatct
     3001 gtgcagagcg gatcggacgg gacagggtgg agcggggagg cctgtgcaaa gtgggaaaga
     3061 gctgccggtg gcctgagcca gggtgctggg gctgcgggtg gggaaaggag gccccagcac
     3121 ttcagacaaa gaccacccct tcacccactg gaccccaagc cgcaaaagct ggggaggtag
     3181 gaagggtcac tgtgagggcc cagggcccct ctcttcccat ctcccttgtc ctggtggcct
     3241 tcagtgtctc ttccagttcc aggagctgct gggaagctgg ccttcattgt tggtgacagg
     3301 gcaaccatgg gactaggagg tggcccatac acatggctgg ctggtcctga ggccacccac
     3361 cttgttccag gacatgggcc cgggcccggt gtgggggtag acgcagaggg cagagggtag
     3421 cccttggtac tgtgggtccc tcaaagagga gagtggggtg cagaaatgcc tcagcatggc
     3481 tcatgcacac agcattctcc cgtggggcag ggttccctca tgcaacaggc ctccctgtgg
     3541 ccagcctctc tgcctgtctc tcgctgcgtc cccccaaccc cttgtgttct attggttcat
     3601 tgttaataaa tatcaaatga ggtca
//
