LOCUS       NM_032178               4191 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens solute carrier family 7 member 6 opposite strand
            (SLC7A6OS), mRNA.
ACCESSION   NM_032178
VERSION     NM_032178.3
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 4191)
  AUTHORS   Mazzola,L., Oliver,K.L., Labalme,A., Baykan,B., Muona,M.,
            Joensuu,T.H., Courage,C., Chatron,N., Borsani,G., Alix,E.,
            Ramond,F., Touraine,R., Bahlo,M., Bebek,N., Berkovic,S.F.,
            Lehesjoki,A.E. and Lesca,G.
  TITLE     Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing
            Variant of SLC7A6OS
  JOURNAL   Ann Neurol 89 (2), 402-407 (2021)
   PUBMED   33085104
  REMARK    GeneRIF: Progressive Myoclonus Epilepsy Caused by a Homozygous
            Splicing Variant of SLC7A6OS.
REFERENCE   2  (bases 1 to 4191)
  AUTHORS   Benini,A., Cignarella,F., Calvarini,L., Mantovanelli,S.,
            Giacopuzzi,E., Zizioli,D. and Borsani,G.
  TITLE     slc7a6os gene plays a critical role in defined areas of the
            developing CNS in zebrafish
  JOURNAL   PLoS One 10 (3), e0119696 (2015)
   PUBMED   25803583
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4191)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (bases 1 to 4191)
  AUTHORS   Wang,C., Zhang,H., Feng,H., Yang,B., Pramanik,J., Guo,Z. and Lin,J.
  TITLE     Molecular characterization and functional analysis of a
            protease-related protein in Chang-liver cells
  JOURNAL   BMB Rep 43 (5), 375-381 (2010)
   PUBMED   20510023
  REMARK    GeneRIF: Results describe the characterization of a
            protease-related protein, ARP1, in Chang-liver cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB145613.1, AK023353.1, AY078070.1, BC013778.1 and AC020978.10.
            
            On Nov 22, 2018 this sequence version replaced NM_032178.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225712.1, SRR1803615.86858.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263997.11/ ENSP00000263997.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DB145613.1         20-20
            2-153               AK023353.1         1-152
            154-253             AY078070.1         160-259
            254-1608            AK023353.1         253-1607
            1609-1610           BC013778.1         1594-1595
            1611-4191           AC020978.10        40442-43022
FEATURES             Location/Qualifiers
     source          1..4191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..4191
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="solute carrier family 7 member 6 opposite strand"
                     /db_xref="GeneID:84138"
                     /db_xref="HGNC:HGNC:25807"
                     /db_xref="MIM:619192"
     exon            1..212
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..950
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="protein SLC7A6OS; ADAMS proteinase-related protein;
                     solute carrier family 7 member 6 opposite strand
                     transcript"
                     /codon_start=1
                     /product="probable RNA polymerase II nuclear localization
                     protein SLC7A6OS"
                     /protein_id="NP_115554.2"
                     /db_xref="CCDS:CCDS10865.1"
                     /db_xref="GeneID:84138"
                     /db_xref="HGNC:HGNC:25807"
                     /db_xref="MIM:619192"
                     /translation="MEAARTAVLRVKRKRSAEPAEALVLACKRLRSDAVESAAQKTSE
                     GLERAAENNVFHLVATVCSQEEPVQPLLREVLRPSRDSQQRVRRNLRASAREVRQEGR
                     YRVLSSRRSLGTTSSGQESEYTPGNPEAAGNSGFQLLDLVHEEGEPEAASAGSCKTSD
                     PDVILCNSVELIRERLTVSEDGPGVRRQEEQKHDDYVYDIYYLETATPGWIENILSVQ
                     PYSQEWELVNDDQEPEDIYDDEDDENSENNWRNEYPEEESSDGDEDSRGSADYNSLSE
                     EERGSSRQRMWSKYPLDVQKEFGYDSPHDLDSD"
     exon            213..491
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /inference="alignment:Splign:2.1.0"
     exon            492..698
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /inference="alignment:Splign:2.1.0"
     exon            699..819
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /inference="alignment:Splign:2.1.0"
     exon            820..4191
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1585..1590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="hexamer: AGTAAA"
     polyA_site      1610
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="major polyA site"
     regulatory      2349..2354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="hexamer: ATTAAA"
     polyA_site      2374
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
     regulatory      4028..4033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="hexamer: AATAAA"
     polyA_site      4055
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="major polyA site"
     regulatory      4169..4174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
                     /note="hexamer: AGTAAA"
     polyA_site      4191
                     /gene="SLC7A6OS"
                     /gene_synonym="EPM12; Iwr1"
ORIGIN      
        1 agtgctcagc ggcagccact atggaggccg ccaggaccgc tgtactccgg gtgaagcgga
       61 agcgcagtgc ggagccggcg gaggctcttg tgctcgcttg taaacgcctc cggagcgacg
      121 cggtcgagtc agcggcacag aagacgtcgg agggtttgga gagagcggcg gagaataatg
      181 tcttccactt ggtggccact gtgtgctccc aggaggaacc agtccagcct ctcctgcggg
      241 aagttctgcg cccgtcacgg gacagccagc agcgtgtccg ccgtaatctc cgcgcctcgg
      301 ctcgggaggt ccggcaggag ggccgctacc gggtgctttc cagccgccga tccttgggga
      361 ccacctcgag cggccaggag tccgagtaca cgccggggaa cccagaagcc gccgggaact
      421 cgggctttca gttgttagac cttgtccacg aggagggaga acctgaagcc gcctctgcag
      481 gctcctgcaa aacatctgac ccagatgtga tcctctgcaa ttctgtagag ttgatccgtg
      541 agcgattgac tgtgtctgag gatggaccag gagtcaggcg ccaggaagaa caaaaacacg
      601 atgactatgt gtatgacatt tactacttgg agacggccac tccaggctgg attgagaaca
      661 tcctctccgt gcagccctac agccaagaat gggagctggt gaatgatgat caagaaccag
      721 aggacattta cgacgatgaa gatgacgaga acagtgagaa taactggcgc aatgagtacc
      781 cagaggagga gagcagtgat ggagatgagg attccagagg ctctgctgac tacaacagcc
      841 tgagtgagga ggaaagaggc agcagcagac agcggatgtg gagcaagtac cctctggatg
      901 tgcagaagga gttcggctat gacagccccc acgacctgga ttcagactga tggtcttgtg
      961 atgtccatga ggttctgcca catgcccttg agggctctga gtccagagtt aactgccctg
     1021 ctgacatcct gttaggtttc ctagcttaac atgtggaagg aaaagcatat caagcatatc
     1081 gggcggcacc atcccaccac agtgaaaact tatgttaggg gagtgagtct tttccactta
     1141 cagtaggacc cctttgcctc aatcaaaagt gaccctacag tttgaaagaa aaaaaaacgt
     1201 tgaaaaaagg aaggtttctt tagctttagc ttcttggccc aggaattttt cctggcattc
     1261 aggttctgtg ctgaaaccac aagggagggg gaggttccca tttcattagc agtaagcttc
     1321 tgctgtgcca taccaccagg ctgcctgcct ctaggaaaac cctgttcctt ttgatagaat
     1381 ctaaaagggg taccagtggg tcccttgtag caatacagac tggatagtaa tggccattag
     1441 ggcagaaagt agtctgagca gtgggagatt ttagttaaca gctatttctg cttccaaact
     1501 ctgataacgg ttgtgaaatt actgactgac ttcctttggc agtggggcca agaaacaata
     1561 tatatgaatg tgatacatgt gtttagtaaa atctagcttt gaacatggaa gaaagtaatt
     1621 ctttgaaaac cttttaaatc tgaatatcta aaacagggag cggtagtgaa atagaaggtt
     1681 cagcattgat tataaatacc aaggacttaa ggcaagggag gaaaaacaaa gtaccttctg
     1741 aacttagctt tccactgagt aatgtttact cttcacagca cccaccacaa aaacaaacta
     1801 ctatcaacag gatcaatttt attaacaact tgtatctctt ctaagcagac tctgtccgta
     1861 tgcctttcca aaccatagct gccttaactg actgccttgg tgtttattct agcgtaacat
     1921 tgtccagtag aactatctgc agtgatgata tgttctgtgt ctgcactgtg tagtagtaga
     1981 cacgggtggc tgctgagcac ttgaaatgtg attagcgcaa ctgagaaact gagcttttaa
     2041 ttttatttca ttttaatgta attagctaca cgtggctagt agctgttgca gcggacacca
     2101 caggtctaag gaaacaacac agaacattca gctaggggtg taccctcata gcctgtgagt
     2161 gtctcttact cactgtcatg ggggaaggtg agttacacag ggaggtacct tcttgccgcc
     2221 tcttttagga tttcctaagt atctctcctt catcctacct gccatcattc tttgacttta
     2281 tgtccatttt ctaaaccttt gcctacactt gctcttatct acatggagtt gttcaacctg
     2341 ccgaagtgat taaattctgt gtacacaggc cgtatatatt gcagctaatt aaaacaacaa
     2401 acatcctagg catgcacaaa ggtataattc accgttataa caggcagcaa cttgtatgtc
     2461 taatattaga catcttgctt tctgtctgta ggcatagaaa caaaggattg aaagccattc
     2521 tcatacagca accgggtgaa aaaaacaaaa cactgtgctg ttacaatgtg ctccctgcta
     2581 tttatactca ttaagtttcc ccaatattaa agggctgaca acttaataaa ctgtactcac
     2641 tgcaaaaggg ataataagca caccaggaaa aggatttaag gagacagaca acaaagagct
     2701 ggcagaaatt aattccacca tgaagcttga gtgctgtagg gatcctctgg cttcgctccc
     2761 aaagagagga tcctgggaga agtctgtatc cagcacagag gggaaaaatg ctgtcaccat
     2821 ccaaaaatga aaggaggatg acatggctca ctaagcaagt actagggcac ctggcatgtg
     2881 aggtccttgc tttccctaga agccactggt ggggggcagc aaattcctgg gattagctgg
     2941 ttatctggtg gagaaagcta aagctggggt cagggatctt taaaaggcaa gcacattttg
     3001 cttaaaggat tagctccaga ggagccctgg gatgggtgcc agcttagctc agacagaagt
     3061 catgttctta gcgttcaggc aagtcagcct ttgcataaga caccctgtcg tcgggcagga
     3121 atttgccgtt acaaatccca aacccatgac agtaggaatg tcaccccatg cttcacatat
     3181 gcattatgct ctgaacccag ggcaactatg accatgcttc cttcaatctt tattgagcaa
     3241 atatatggcc aaggttattc ccttatctgt gactgggtgg agaagaatgg tcaggaaggg
     3301 agactgcctc actgttgacc aattccaaaa cctaaggata agcccatggg gtatgtcaag
     3361 ctagcaggtt cttctcggcc caggatgaca gtgtctgggg gcatcacaaa acagttgtac
     3421 aatccaatgc agccgtcctg ctcatacagt aagatccatt aggccagagc aggcctaact
     3481 tgggtggaga gcccagcctg agcaccagaa ttagttgctt ccacttgtgc agcctgctga
     3541 agagccggac tcaggttgaa gcagctttcc tcccagtctt cactgatctc cacagggaga
     3601 aaacagaagt ccccacaagt accaagctct tcctgagact gcagccacca cacctcgggg
     3661 aaggggaggc tggcaggaga ggagtacact gtcccggtga cccacaccaa ggtggctcca
     3721 agtgtaaaca aagcctggtg ccagggacag aagaggatgc agcctgatgt gaggttttca
     3781 gaaaagtgaa atgacctagc accaggttgg gattgcttgg gtctgcacag cagtccctca
     3841 cactgccctt acagagagga acaggttatt tgatgacttg ggcccatgag atgttctcca
     3901 agccattgac agctgagaga attcaggtga tccacctgaa tatcagaagt ttcagccctc
     3961 ttagagttcg taacagaaac ccagagattt actgtcagct agaacaaaga tgtaaggtct
     4021 caagtaaaat aaaggattgt ccttcaaaac agcaatatta acagacttct gactcaggaa
     4081 tttgttcatc tgtccttgct ggacctgagc caagtgcttg taacgtgatc tatgatctat
     4141 ctgtatgcta aagtgtaaca ggtacgtgag taaaaaaatc tttaaggttc a
//
