LOCUS       NM_001080442            1672 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens solute carrier family 38 member 8 (SLC38A8), mRNA.
ACCESSION   NM_001080442 XM_085347
VERSION     NM_001080442.3
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 1672)
  AUTHORS   Kruijt,C.C., Gradstein,L., Bergen,A.A., Florijn,R.J., Arveiler,B.,
            Lasseaux,E., Zanlonghi,X., Bagdonaite-Bejarano,L., Fulton,A.B.,
            Yahalom,C., Blumenfeld,A., Perez,Y., Birk,O.S., de Wit,G.C.,
            Schalij-Delfos,N.E. and van Genderen,M.M.
  TITLE     The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and
            Oculocutaneous Albinism: Similarities and Differences
  JOURNAL   Invest Ophthalmol Vis Sci 63 (1), 19 (2022)
   PUBMED   35029636
  REMARK    GeneRIF: The Phenotypic and Mutational Spectrum of the FHONDA
            Syndrome and Oculocutaneous Albinism: Similarities and Differences.
REFERENCE   2  (bases 1 to 1672)
  AUTHORS   Ehrenberg,M., Bagdonite-Bejarano,L., Fulton,A.B., Orenstein,N. and
            Yahalom,C.
  TITLE     Genetic causes of nystagmus, foveal hypoplasia and subnormal visual
            acuity- other than albinism
  JOURNAL   Ophthalmic Genet 42 (3), 243-251 (2021)
   PUBMED   33594928
  REMARK    GeneRIF: Genetic causes of nystagmus, foveal hypoplasia and
            subnormal visual acuity- other than albinism.
REFERENCE   3  (bases 1 to 1672)
  AUTHORS   Schiff,E.R., Tailor,V.K., Chan,H.W., Theodorou,M., Webster,A.R. and
            Moosajee,M.
  TITLE     Novel Biallelic Variants and Phenotypic Features in Patients with
            SLC38A8-Related Foveal Hypoplasia
  JOURNAL   Int J Mol Sci 22 (3), 1130 (2021)
   PUBMED   33498813
  REMARK    GeneRIF: Novel Biallelic Variants and Phenotypic Features in
            Patients with SLC38A8-Related Foveal Hypoplasia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1672)
  AUTHORS   Kuht,H.J., Han,J., Maconachie,G.D.E., Park,S.E., Lee,S.T.,
            McLean,R., Sheth,V., Hisaund,M., Dawar,B., Sylvius,N., Mahmood,U.,
            Proudlock,F.A., Gottlob,I., Lim,H.T. and Thomas,M.G.
  TITLE     SLC38A8 mutations result in arrested retinal development with loss
            of cone photoreceptor specialization
  JOURNAL   Hum Mol Genet 29 (18), 2989-3002 (2020)
   PUBMED   32744312
  REMARK    GeneRIF: SLC38A8 mutations result in arrested retinal development
            with loss of cone photoreceptor specialization.
REFERENCE   5  (bases 1 to 1672)
  AUTHORS   Weiner,C., Hecht,I., Rotenstreich,Y., Guttman,S., Or,L., Morad,Y.,
            Shapira,G., Shomron,N. and Pras,E.
  TITLE     The pathogenicity of SLC38A8 in five families with foveal
            hypoplasia and congenital nystagmus
  JOURNAL   Exp Eye Res 193, 107958 (2020)
   PUBMED   32032626
  REMARK    GeneRIF: The pathogenicity of SLC38A8 in five families with foveal
            hypoplasia and congenital nystagmus.
REFERENCE   6  (bases 1 to 1672)
  AUTHORS   Perez,Y., Gradstein,L., Flusser,H., Markus,B., Cohen,I., Langer,Y.,
            Marcus,M., Lifshitz,T., Kadir,R. and Birk,O.S.
  TITLE     Isolated foveal hypoplasia with secondary nystagmus and low vision
            is associated with a homozygous SLC38A8 mutation
  JOURNAL   Eur J Hum Genet 22 (5), 703-706 (2014)
   PUBMED   24045842
  REMARK    GeneRIF: Isolated foveal hypoplasia with secondary nystagmus and
            low vision is associated with a homozygous SLC38A8 mutation.
REFERENCE   7  (bases 1 to 1672)
  AUTHORS   Poulter,J.A., Al-Araimi,M., Conte,I., van Genderen,M.M.,
            Sheridan,E., Carr,I.M., Parry,D.A., Shires,M., Carrella,S.,
            Bradbury,J., Khan,K., Lakeman,P., Sergouniotis,P.I., Webster,A.R.,
            Moore,A.T., Pal,B., Mohamed,M.D., Venkataramana,A., Ramprasad,V.,
            Shetty,R., Saktivel,M., Kumaramanickavel,G., Tan,A., Mackey,D.A.,
            Hewitt,A.W., Banfi,S., Ali,M., Inglehearn,C.F. and Toomes,C.
  TITLE     Recessive mutations in SLC38A8 cause foveal hypoplasia and optic
            nerve misrouting without albinism
  JOURNAL   Am J Hum Genet 93 (6), 1143-1150 (2013)
   PUBMED   24290379
  REMARK    GeneRIF: Recessive mutations in SLC38A8 cause foveal hypoplasia and
            optic nerve misrouting without albinism.
            Review article
REFERENCE   8  (bases 1 to 1672)
  AUTHORS   Liao,S.Y., Lin,X. and Christiani,D.C.
  TITLE     Gene-environment interaction effects on lung function- a
            genome-wide association study within the Framingham heart study
  JOURNAL   Environ Health 12, 101 (2013)
   PUBMED   24289273
  REMARK    GeneRIF: Study found that SNP rs9931086 in the SLC38A8 gene and
            genes CTLA-4, HDAC, and PPAR-alpha, which are involved in
            inflammatory processes, may modify the effects of occupational
            exposure on lung function.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1672)
  AUTHORS   Adams,L.A., White,S.W., Marsh,J.A., Lye,S.J., Connor,K.L.,
            Maganga,R., Ayonrinde,O.T., Olynyk,J.K., Mori,T.A., Beilin,L.J.,
            Palmer,L.J., Hamdorf,J.M. and Pennell,C.E.
  TITLE     Association between liver-specific gene polymorphisms and their
            expression levels with nonalcoholic fatty liver disease
  JOURNAL   Hepatology 57 (2), 590-600 (2013)
   PUBMED   23213074
REFERENCE   10 (bases 1 to 1672)
  AUTHORS   Pal,B., Mohamed,M.D., Keen,T.J., Williams,G.A., Bradbury,J.A.,
            Sheridan,E. and Inglehearn,C.F.
  TITLE     A new phenotype of recessively inherited foveal hypoplasia and
            anterior segment dysgenesis maps to a locus on chromosome
            16q23.2-24.2
  JOURNAL   J Med Genet 41 (10), 772-777 (2004)
   PUBMED   15466012
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC040169.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 11, 2020 this sequence version replaced NM_001080442.2.
            
            Summary: This gene encodes a putative sodium-dependent
            amino-acid/proton antiporter. The protein has eleven transmembrane
            domains, an extracellular N-terminus and an intracellular
            C-terminal tail. The protein is a member of the SLC38
            sodium-coupled neutral amino acid transporter family of proteins.
            Mutations in this gene result in foveal hypoplasia with or without
            optic nerve misrouting and/or anterior segment dysgenesis.
            [provided by RefSeq, May 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000299709.8/ ENSP00000299709.3
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-245               AC040169.7         99077-99321         c
            246-436             AC040169.7         98495-98685         c
            437-635             AC040169.7         93228-93426         c
            636-777             AC040169.7         89854-89995         c
            778-879             AC040169.7         88393-88494         c
            880-937             AC040169.7         86020-86077         c
            938-1052            AC040169.7         79301-79415         c
            1053-1200           AC040169.7         73666-73813         c
            1201-1409           AC040169.7         73045-73253         c
            1410-1461           AC040169.7         69527-69578         c
            1462-1672           AC040169.7         66193-66403         c
FEATURES             Location/Qualifiers
     source          1..1672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.3"
     gene            1..1672
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /note="solute carrier family 38 member 8"
                     /db_xref="GeneID:146167"
                     /db_xref="HGNC:HGNC:32434"
                     /db_xref="MIM:615585"
     exon            1..245
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            246..436
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             248..1555
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /note="putative sodium-coupled neutral amino acid
                     transporter 8; amino acid transporter SLC38A8"
                     /codon_start=1
                     /product="solute carrier family 38 member 8"
                     /protein_id="NP_001073911.1"
                     /db_xref="CCDS:CCDS32495.1"
                     /db_xref="GeneID:146167"
                     /db_xref="HGNC:HGNC:32434"
                     /db_xref="MIM:615585"
                     /translation="MEGQTPGSRGLPEKPHPATAAATLSSMGAVFILMKSALGAGLLN
                     FPWAFSKAGGVVPAFLVELVSLVFLISGLVILGYAAAVSGQATYQGVVRGLCGPAIGK
                     LCEACFLLNLLMISVAFLRVIGDQLEKLCDSLLSGTPPAPQPWYADQRFTLPLLSVLV
                     ILPLSAPREIAFQKYTSILGTLAACYLALVITVQYYLWPQGLVRESHPSLSPASWTSV
                     FSVFPTICFGFQCHEAAVSIYCSMRKRSLSHWALVSVLSLLACCLIYSLTGVYGFLTF
                     GTEVSADVLMSYPGNDMVIIVARVLFAVSIVTVYPIVLFLGRSVMQDFWRRSCLGGWG
                     PSALADPSGLWVRMPLTILWVTVTLAMALFMPDLSEIVSIIGGISSFFIFIFPGLCLI
                     CAMGVEPIGPRVKCCLEVWGVVSVLVGTFIFGQSTAAAVWEMF"
     exon            437..635
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            636..777
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            778..879
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            880..937
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1052
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1200
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1409
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1461
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1672
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1650..1655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /note="hexamer: CATAAA"
     polyA_site      1672
                     /gene="SLC38A8"
                     /gene_synonym="FHASD; FVH2; SNAT8"
                     /note="major polyA site"
ORIGIN      
        1 gcaaattctt gggacccatg gccctgacca cttgttgctg tcctcttagg tgtggagggg
       61 cctgaccctg acacatactc gctagggctc ctttagttaa tgactcactc acccctggcc
      121 aagctcgaat cttgcttctc ccacccctct ggccccaaga aatgcaactg agccacctgg
      181 agtaagcccg agtcccatcc ccaacagcca aagactgtcc ggcaccttaa aagttggatt
      241 tggtgccatg gagggacaga ccccaggaag caggggcctt ccagaaaagc ctcaccctgc
      301 cacggctgct gccactctgt cctcgatggg cgctgtcttc atcctcatga agtccgcgct
      361 gggagctggc ctgctcaact tcccctgggc cttctccaaa gcgggcggag tggtccctgc
      421 cttcctggtg gagctggtct cgttggtctt cctgatcagc gggctggtca tcctgggcta
      481 tgctgctgct gtcagtggcc aggccaccta ccagggtgtg gtcagggggc tgtgtggccc
      541 tgccattggg aagctgtgtg aggcctgctt cctcctcaac ctgctcatga tctccgtggc
      601 cttcctcagg gtgatcgggg accagctgga gaagctgtgt gactccctcc tgtctggcac
      661 cccgcccgcc ccgcagccgt ggtacgcaga ccagcgcttc accctgcccc tgctctccgt
      721 gctggtcatc ctgcccctgt ctgccccgcg ggagatcgcc ttccagaaat acacaagcat
      781 cctaggcact ctggctgcct gttacctggc cctggtcatc accgtgcagt actacctctg
      841 gccccagggc ctcgtgcgtg agtcccatcc ttcactgagc cctgcctcct ggacctctgt
      901 gttcagtgtc ttccccacca tctgcttcgg gtttcagtgt cacgaagctg ccgtctccat
      961 ctactgcagc atgcgcaaac ggagcctctc ccactgggcc ctggtgtctg tgctgtcctt
     1021 gctggcctgc tgcctcatct attcactgac gggggtttat ggcttcctga cttttgggac
     1081 agaagtttct gctgacgtct tgatgtccta cccaggcaat gatatggtca tcattgtggc
     1141 ccgggtcctt tttgctgtct ccatcgtaac tgtctacccc atcgtgctct tcctggggag
     1201 gtcagtgatg caggacttct ggaggaggag ctgcttgggg ggatgggggc ccagcgccct
     1261 ggccgacccc tcagggctgt gggtccggat gccgctgacc atcctgtggg tcaccgtgac
     1321 gctcgccatg gcgctgttta tgcctgacct cagcgagatc gtcagcatca tcggaggcat
     1381 cagttccttc ttcatcttca tcttcccagg tttgtgcctc atctgtgcaa tgggtgtcga
     1441 gcctatagga ccaagagtca agtgctgcct ggaggtctgg ggagtggtct ctgtgctggt
     1501 cggcaccttc atctttgggc agagcacggc ggcagcggtc tgggagatgt tctgatgggc
     1561 agctagtgcc gggcaggaag gggccctccg ggggctgacc ctacgtggct gctgtatgca
     1621 gccaggagac cgatgccatt tcttttcctc ataaagatgc tggagagact ga
//
