LOCUS       NP_009162                642 aa            linear   PRI 28-APR-2025
DEFINITION  sodium- and chloride-dependent neutral and basic amino acid
            transporter B(0+) [Homo sapiens].
ACCESSION   NP_009162
VERSION     NP_009162.1
DBSOURCE    REFSEQ: accession NM_007231.5
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  (residues 1 to 642)
  AUTHORS   Dang,C., Bian,Q., Wang,F., Wang,H. and Liang,Z.
  TITLE     Machine learning identifies SLC6A14 as a novel biomarker promoting
            the proliferation and metastasis of pancreatic cancer via
            Wnt/beta-catenin signaling
  JOURNAL   Sci Rep 14 (1), 2116 (2024)
   PUBMED   38267509
  REMARK    GeneRIF: Machine learning identifies SLC6A14 as a novel biomarker
            promoting the proliferation and metastasis of pancreatic cancer via
            Wnt/beta-catenin signaling.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 642)
  AUTHORS   Gu,Q., Xia,H., Song,Y.Q., Duan,J., Chen,Y., Zhang,Y., Chen,H.P. and
            Zhang,L.
  TITLE     SLC6A14 promotes ulcerative colitis progression by facilitating
            NLRP3 inflammasome-mediated pyroptosis
  JOURNAL   World J Gastroenterol 30 (3), 252-267 (2024)
   PUBMED   38314135
  REMARK    GeneRIF: SLC6A14 promotes ulcerative colitis progression by
            facilitating NLRP3 inflammasome-mediated pyroptosis.
REFERENCE   3  (residues 1 to 642)
  AUTHORS   Chen,Y., Yan,W., Chen,Y., Zhu,J., Wang,J., Jin,H., Wu,H., Zhang,G.,
            Zhan,S., Xi,Q., Shi,T. and Chen,W.
  TITLE     SLC6A14 facilitates epithelial cell ferroptosis via the
            C/EBPbeta-PAK6 axis in ulcerative colitis
  JOURNAL   Cell Mol Life Sci 79 (11), 563 (2022)
   PUBMED   36272033
  REMARK    GeneRIF: SLC6A14 facilitates epithelial cell ferroptosis via the
            C/EBPbeta-PAK6 axis in ulcerative colitis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 642)
  AUTHORS   Guo,Q., Xu,W., Li,X., Sun,J.L., Gu,X.C. and Jing,F.B.
  TITLE     SLC6A14 Depletion Contributes to Amino Acid Starvation to Suppress
            EMT-Induced Metastasis in Gastric Cancer by Perturbing the
            PI3K/AKT/mTORC1 Pathway
  JOURNAL   Biomed Res Int 2022, 7850658 (2022)
   PUBMED   35865664
  REMARK    GeneRIF: SLC6A14 Depletion Contributes to Amino Acid Starvation to
            Suppress EMT-Induced Metastasis in Gastric Cancer by Perturbing the
            PI3K/AKT/mTORC1 Pathway.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 642)
  AUTHORS   Wang,F., Panjwani,N., Wang,C., Sun,L. and Strug,L.J.
  TITLE     A flexible summary statistics-based colocalization method with
            application to the mucin cystic fibrosis lung disease modifier
            locus
  JOURNAL   Am J Hum Genet 109 (2), 253-269 (2022)
   PUBMED   35065708
  REMARK    GeneRIF: A flexible summary statistics-based colocalization method
            with application to the mucin cystic fibrosis lung disease modifier
            locus.
REFERENCE   6  (residues 1 to 642)
  AUTHORS   Gupta,N., Miyauchi,S., Martindale,R.G., Herdman,A.V., Podolsky,R.,
            Miyake,K., Mager,S., Prasad,P.D., Ganapathy,M.E. and Ganapathy,V.
  TITLE     Upregulation of the amino acid transporter ATB0,+ (SLC6A14) in
            colorectal cancer and metastasis in humans
  JOURNAL   Biochim Biophys Acta 1741 (1-2), 215-223 (2005)
   PUBMED   15905073
  REMARK    GeneRIF: The up-regulation of SLC6A14 may have a pathogenic role in
            colorectal neoplasms.
REFERENCE   7  (residues 1 to 642)
  AUTHORS   Durand,E., Boutin,P., Meyre,D., Charles,M.A., Clement,K., Dina,C.
            and Froguel,P.
  TITLE     Polymorphisms in the amino acid transporter solute carrier family 6
            (neurotransmitter transporter) member 14 gene contribute to
            polygenic obesity in French Caucasians
  JOURNAL   Diabetes 53 (9), 2483-2486 (2004)
   PUBMED   15331564
  REMARK    GeneRIF: association of the SLC6A14 gene locus with obesity.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Diabetes. 2005 Feb;54(2):587]
REFERENCE   8  (residues 1 to 642)
  AUTHORS   Suviolahti,E., Oksanen,L.J., Ohman,M., Cantor,R.M.,
            Ridderstrale,M., Tuomi,T., Kaprio,J., Rissanen,A., Mustajoki,P.,
            Jousilahti,P., Vartiainen,E., Silander,K., Kilpikari,R.,
            Salomaa,V., Groop,L., Kontula,K., Peltonen,L. and Pajukanta,P.
  TITLE     The SLC6A14 gene shows evidence of association with obesity
  JOURNAL   J Clin Invest 112 (11), 1762-1772 (2003)
   PUBMED   14660752
  REMARK    GeneRIF: SLC6A14 gene is an interesting novel candidate for obesity
            because it encodes an amino acid transporter, which potentially
            regulates tryptophan availability for serotonin synthesis and thus
            possibly affects appetite control.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 642)
  AUTHORS   Sloan,J.L., Grubb,B.R. and Mager,S.
  TITLE     Expression of the amino acid transporter ATB 0+ in lung: possible
            role in luminal protein removal
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 284 (1), L39-L49 (2003)
   PUBMED   12388375
REFERENCE   10 (residues 1 to 642)
  AUTHORS   Sloan,J.L. and Mager,S.
  TITLE     Cloning and functional expression of a human Na(+) and
            Cl(-)-dependent neutral and cationic amino acid transporter B(0+)
  JOURNAL   J Biol Chem 274 (34), 23740-23745 (1999)
   PUBMED   10446133
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313390.1, BC093710.1,
            AF151978.1, DB207722.1, AC241580.2 and BU686768.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the solute carrier family 6.
            Members of this family are sodium and chloride dependent
            neurotransmitter transporters. The encoded protein transports both
            neutral and cationic amino acids. This protein may also function as
            a beta-alanine carrier. Mutations in this gene may be associated
            with X-linked obesity. A pseudogene of this gene is found on
            chromosome X.[provided by RefSeq, May 2010].
            
            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 :: AF151978.1, AK313390.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000598581.3/ ENSP00000470801.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     Protein         1..642
                     /product="sodium- and chloride-dependent neutral and basic
                     amino acid transporter B(0+)"
                     /note="amino acid transporter B0+; solute carrier family 6
                     (neurotransmitter transporter), member 14; amino acid
                     transporter ATB0+; solute carrier family 6 (amino acid
                     transporter), member 14"
                     /calculated_mol_wt=72022
     Region          36..641
                     /region_name="SLC6sbd_ATB0"
                     /note="Na(+)- and Cl(-)-dependent beta-alanine transporter
                     ATB0+; solute-binding domain; cd11501"
                     /db_xref="CDD:271391"
     Site            45..65
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            order(51,54,419,422..423)
                     /site_type="other"
                     /note="Na binding site 2 [ion binding]"
                     /db_xref="CDD:271391"
     Site            order(52..53,55..58,132,321..322,327,329,423,426..427)
                     /site_type="other"
                     /note="putative substrate binding site 1 [chemical
                     binding]"
                     /db_xref="CDD:271391"
     Site            order(53,58,322,354)
                     /site_type="other"
                     /note="Na binding site 1 [ion binding]"
                     /db_xref="CDD:271391"
     Site            order(60..61,131,135,138,388,392)
                     /site_type="other"
                     /note="putative substrate binding site 2 [chemical
                     binding]"
                     /db_xref="CDD:271391"
     Site            72..92
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            110..130
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            155
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            163
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            174
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            189
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            197
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            202
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            230
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            235..255
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            261..281
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            302
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            315..335
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            348..368
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            399..419
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            450..477
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            480..500
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            528..548
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Site            563..583
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     Region          622..642
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN76.1)"
     CDS             1..642
                     /gene="SLC6A14"
                     /gene_synonym="BMIQ11"
                     /coded_by="NM_007231.5:105..2033"
                     /db_xref="CCDS:CCDS14570.1"
                     /db_xref="GeneID:11254"
                     /db_xref="HGNC:HGNC:11047"
                     /db_xref="MIM:300444"
ORIGIN      
        1 mdklkcpsff kcrekekvsa ssenfhvgen denqdrgnws kksdyllsmi gyavglgnvw
       61 rfpyltysng ggaflipyai mlalaglplf flecslgqfa slgpvsvwri lplfqgvgit
      121 mvlisifvti yynviiaysl yymfasfqse lpwkncssws dkncsrspiv thcnvstvnk
      181 giqeiiqmnk swvdinnftc ingseiyqpg qlpseqywnk valqrssgmn etgvivwyla
      241 lclllawliv gaalfkgiks sgkvvyftal fpyvvllill vrgatlegas kgisyyigaq
      301 snftklkeae vwkdaatqif yslsvawggl valssynkfk nncfsdaivv cltncltsvf
      361 agfaifsilg hmahisgkev sqvvksgfdl afiaypeala qlpggpfwsi lfffmlltlg
      421 ldsqfasiet itttiqdlfp kvmkkmrvpi tlgcclvlfl lglvcvtqag iywvhlidhf
      481 cagwgiliaa ilelvgiiwi yggnrfiedt emmigakrwi fwlwwracwf vitpilliai
      541 fiwslvqfhr pnygaipypd wgvalgwcmi vfciiwipim aiikiiqakg nifqrliscc
      601 rpasnwgpyl eqhrgerykd mvdpkkeadh eiptvsgsrk pe
//
