LOCUS       NM_004173               2316 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 7 member 4 (SLC7A4), mRNA.
ACCESSION   NM_004173
VERSION     NM_004173.3
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 2316)
  AUTHORS   Proitsi,P., Lupton,M.K., Reeves,S.J., Hamilton,G., Archer,N.,
            Martin,B.M., Iyegbe,C., Hollingworth,P., Lawlor,B., Gill,M.,
            Brayne,C., Rubinsztein,D.C., Owen,M.J., Williams,J., Lovestone,S.
            and Powell,J.F.
  TITLE     Association of serotonin and dopamine gene pathways with behavioral
            subphenotypes in dementia
  JOURNAL   Neurobiol Aging 33 (4), 791-803 (2012)
   PUBMED   20685009
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, gene-environment interaction, and pharmacogenomic /
            toxicogenomic. (HuGE Navigator)
REFERENCE   2  (bases 1 to 2316)
  AUTHORS   Gudayol-Ferre,E., Herrera-Guzman,I., Camarena,B.,
            Cortes-Penagos,C., Herrera-Abarca,J.E., Martinez-Medina,P.,
            Cruz,D., Hernandez,S., Genis,A., Carrillo-Guerrero,M.Y., Aviles
            Reyes,R. and Guardia-Olmos,J.
  TITLE     The role of clinical variables, neuropsychological performance and
            SLC6A4 and COMT gene polymorphisms on the prediction of early
            response to fluoxetine in major depressive disorder
  JOURNAL   J Affect Disord 127 (1-3), 343-351 (2010)
   PUBMED   20584552
  REMARK    GeneRIF: Clinical trial of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 2316)
  AUTHORS   Kohlrausch,F.B., Salatino-Oliveira,A., Gama,C.S., Lobato,M.I.,
            Belmonte-de-Abreu,P. and Hutz,M.H.
  TITLE     Influence of serotonin transporter gene polymorphisms on clozapine
            response in Brazilian schizophrenics
  JOURNAL   J Psychiatr Res 44 (16), 1158-1162 (2010)
   PUBMED   20452607
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 2316)
  AUTHORS   Kikuchi,A., Nakamura,N., Kuze,T., Sasaki,Y., Abe,M., Ohno,H.,
            Akasaka,T., Nakamura,S., Ohshima,K. and Ando,K.
  TITLE     Characterization of de novo diffuse large B-cell lymphoma with a
            translocation of c-myc and immunoglobulin genes
  JOURNAL   Leuk Res 32 (8), 1176-1182 (2008)
   PUBMED   18460403
  REMARK    GeneRIF: These results suggest a heterogeneous immunophenotype and
            genotype for c-myc/Ig DLBCL, with CD10(-)/BCL6(+)/MUM1(-) cases the
            most frequent.
REFERENCE   5  (bases 1 to 2316)
  AUTHORS   Munoz,L., Lasa,A., Carricondo,M.T., Hernandez,C., Ubeda,J. and
            Nomdedeu,J.F.
  TITLE     Comparative analysis of ZAP-70 expression and Ig VH mutational
            status in B-cell chronic lymphocytic leukemia
  JOURNAL   Cytometry B Clin Cytom 72 (2), 96-102 (2007)
   PUBMED   17051526
  REMARK    GeneRIF: ZAP-70 reactivity using a T-cell marker as a control
            allows to identify the majority of patients with an unmutated Ig VH
            genotype.
REFERENCE   6  (bases 1 to 2316)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (bases 1 to 2316)
  AUTHORS   Hammermann,R., Brunn,G. and Racke,K.
  TITLE     Analysis of the genomic organization of the human cationic amino
            acid transporters CAT-1, CAT-2 and CAT-4
  JOURNAL   Amino Acids 21 (2), 211-219 (2001)
   PUBMED   11665818
  REMARK    GeneRIF: analysis of the genomic organization
REFERENCE   8  (bases 1 to 2316)
  AUTHORS   Fischer,M. and Kuppers,R.
  TITLE     Human IgA- and IgM-secreting intestinal plasma cells carry heavily
            mutated VH region genes
  JOURNAL   Eur J Immunol 28 (9), 2971-2977 (1998)
   PUBMED   9754584
REFERENCE   9  (bases 1 to 2316)
  AUTHORS   Sperandeo,M.P., Borsani,G., Incerti,B., Zollo,M., Rossi,E.,
            Zuffardi,O., Castaldo,P., Taglialatela,M., Andria,G. and
            Sebastio,G.
  TITLE     The gene encoding a cationic amino acid transporter (SLC7A4) maps
            to the region deleted in the velocardiofacial syndrome
  JOURNAL   Genomics 49 (2), 230-236 (1998)
   PUBMED   9598310
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002472.8, BC008814.2 and BC062565.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004173.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008814.2, SRR11853560.19345.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382932.3/ ENSP00000372390.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC002472.8         76708-76710         c
            4-2234              BC008814.2         1-2231
            2235-2316           BC062565.1         2226-2307
FEATURES             Location/Qualifiers
     source          1..2316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2316
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /note="solute carrier family 7 member 4"
                     /db_xref="GeneID:6545"
                     /db_xref="HGNC:HGNC:11062"
                     /db_xref="MIM:603752"
     exon            1..31
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /inference="alignment:Splign:2.1.0"
     exon            32..1053
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1979
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /note="solute carrier family 7 (cationic amino acid
                     transporter, y+ system), member 4; Ig heavy chain variable
                     region; VH 3 family; solute carrier family 7 (orphan
                     transporter), member 4"
                     /codon_start=1
                     /product="cationic amino acid transporter 4"
                     /protein_id="NP_004164.2"
                     /db_xref="CCDS:CCDS33608.1"
                     /db_xref="GeneID:6545"
                     /db_xref="HGNC:HGNC:11062"
                     /db_xref="MIM:603752"
                     /translation="MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTL
                     LGVGGMVGSGLYVLTGAVAKEVAGPAVLLSFGVAAVASLLAALCYAEFGARVPRTGSA
                     YLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSW
                     QVPLLGHYPDFLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQ
                     PHNWSADEGGFAPFGFSGVMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISL
                     AIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFIVAAGSICAMNTVLL
                     SLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQ
                     FLSLGTLLAYTFVATSIIVLRFQKSSPPSSPGPASPGPLTKQQSSFSDHLQLVGTVHA
                     SVPEPGELKPALRPYLGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTLHLPHW
                     GYILLLLLTSVMFLLSLLVLGAHQQQYREDLFQIPMVPLIPALSIVLNICLMLKLSYL
                     TWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGLNSTHYVVFPRGSLEETVQAMQPPS
                     QAPAQDPGHME"
     exon            1054..1694
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1803
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..2316
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /note="hexamer: AATAAT"
     polyA_site      2316
                     /gene="SLC7A4"
                     /gene_synonym="CAT-4; CAT4; HCAT3; VH"
                     /note="major polyA site"
ORIGIN      
        1 agagcggagg cagcggctgc ggcagcagca ggttccagta gctggctcgg tgctcttctc
       61 ggccacctgc catggcccgg gggctgccca ccattgctag cctggcacgc ttatgccaga
      121 agctgaaccg cctgaagccg ctggaggact ccaccatgga gacgtcactg cggcgctgcc
      181 tgtccacgct ggacctgact cttctgggcg tgggtggcat ggtgggctcg ggtctctacg
      241 tgctcacagg tgccgtggcc aaggaggtgg ctggccctgc tgtgctcttg tccttcggtg
      301 tggccgctgt ggcctccctg ctggcagccc tatgctatgc agaatttggg gcacgtgtgc
      361 cacgcacggg ctctgcctac ctgttcacct acgtatccat gggcgagctg tgggccttcc
      421 tcatcggctg gaatgttctc ctcgaataca tcatcggtgg cgccgccgtg gcccgtgcct
      481 ggagtggcta cctggactct atgttcagcc acagcatccg caacttcact gagacccacg
      541 tgggttcttg gcaggtgccc ctcctgggcc actacccgga cttcctggct gctggcatca
      601 tcctcctggc ctctgccttt gtctcctgtg gagcccgcgt gtcctcctgg ctcaatcaca
      661 ccttctcggc catcagcctg cttgtcattc tcttcattgt catcctgggc ttcatcctgg
      721 cccagcctca caactggagc gctgacgaag gcggctttgc acccttcggc ttctccggcg
      781 tcatggccgg cactgcctcc tgcttctatg ctttcgtggg cttcgacgtc attgccgcct
      841 ccagtgagga ggcccagaac ccacggcggt ctgtgcctct ggccatcgcc atctcgcttg
      901 ccattgcagc tggtgcctac atccttgtct ccaccgtgct aaccctcatg gtgccctggc
      961 acagcctgga ccccgactca gcgcttgcag atgccttcta ccagcggggc tacaggtggg
     1021 ctggcttcat cgtggcagct ggctccatct gcgccatgaa caccgtcctg ctcagcctcc
     1081 tcttctccct gccacgcatt gtctatgcca tggccgccga tgggctcttc ttccaggtgt
     1141 ttgcccatgt gcacccccgg acacaggtgc ctgtggcggg caccctggcg ttcgggctcc
     1201 tcacggcctt cctggcactg ctgctggacc tggagtcgct ggttcagttc ctgtcccttg
     1261 gcacactcct ggcctacaca ttcgtggcca ccagtatcat tgtgctgcgc ttccagaagt
     1321 cttccccgcc cagctcccca ggcccagcca gccctggccc cctgaccaag cagcagagct
     1381 ccttctcaga ccacctacag ctggtgggca ctgtacacgc ctccgtccct gagccagggg
     1441 agctgaagcc agccctgagg ccctacctgg gcttcttgga tgggtacagc cctggagcag
     1501 tggtgacttg ggcgcttggc gttatgttgg cctcagccat caccataggc tgcgtgcttg
     1561 tctttgggaa ctcgaccctg cacctcccac actggggtta catcctgctg ctcctgctca
     1621 ccagtgtcat gtttctgctc agcctccttg tcctgggggc tcaccagcaa cagtatcggg
     1681 aagacttatt tcagatcccc atggttcccc tgattccagc cctgagcatc gtcctcaaca
     1741 tctgcctcat gctgaaactt agctatctga cctgggtgcg cttctccatc tggctgctga
     1801 tgggacttgc agtgtatttc ggctatggca tccggcatag caaggagaac cagcgggagc
     1861 tgccagggct gaactccaca cactacgtgg tattccccag gggcagcctg gaggagacag
     1921 tgcaggctat gcagcccccc agccaggcac cagcacagga ccctggccat atggagtagc
     1981 tgatcagccc acacttgccc cgccctccca cacctgcttg ggaggccaga gaggccagac
     2041 aagccgagag ccccttctgt tgtgggcagc ctgggtttgc aggcctgcac aggctgggga
     2101 gtcctcagga ccttaggacc ttcatccagg ggctgggctt cgggtcttca ggagtgggcc
     2161 ttggctggtg ctggtgccat ggactctgcc cagagccttc ttgtttatga tcagctccag
     2221 ctacctgggc agttgtggtg gggtggatgg gaaggcccac agcccaaggg atccataata
     2281 ataattgctt ggccagccat gtggcctgct ggcgta
//
