LOCUS       NM_019625               3484 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 9 (ABCB9),
            transcript variant 1, mRNA.
ACCESSION   NM_019625
VERSION     NM_019625.4
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 3484)
  AUTHORS   Bock,C., Zollmann,T., Lindt,K.A., Tampe,R. and Abele,R.
  TITLE     Peptide translocation by the lysosomal ABC transporter TAPL is
            regulated by coupling efficiency and activation energy
  JOURNAL   Sci Rep 9 (1), 11884 (2019)
   PUBMED   31417173
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3484)
  AUTHORS   Graab,P., Bock,C., Weiss,K., Hirth,A., Koller,N., Braner,M.,
            Jung,J., Loehr,F., Tampe,R., Behrends,C. and Abele,R.
  TITLE     Lysosomal targeting of the ABC transporter TAPL is determined by
            membrane-localized charged residues
  JOURNAL   J Biol Chem 294 (18), 7308-7323 (2019)
   PUBMED   30877195
  REMARK    GeneRIF: results expand our knowledge about lysosomal trafficking
            of TAPL and the general function of extra transmembrane domains of
            ABC transporters
REFERENCE   3  (bases 1 to 3484)
  AUTHORS   Bock,C., Lohr,F., Tumulka,F., Reichel,K., Wurz,J., Hummer,G.,
            Schafer,L., Tampe,R., Joseph,B., Bernhard,F., Dotsch,V. and
            Abele,R.
  TITLE     Structural and functional insights into the interaction and
            targeting hub TMD0 of the polypeptide transporter TAPL
  JOURNAL   Sci Rep 8 (1), 15662 (2018)
   PUBMED   30353140
  REMARK    GeneRIF: the TMD0 of TAPL was expressed via a cell-free expression
            system and confirmed its correct folding by NMR and interaction
            studies.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3484)
  AUTHORS   Zollmann,T., Moiset,G., Tumulka,F., Tampe,R., Poolman,B. and
            Abele,R.
  TITLE     Single liposome analysis of peptide translocation by the ABC
            transporter TAPL
  JOURNAL   Proc Natl Acad Sci U S A 112 (7), 2046-2051 (2015)
   PUBMED   25646430
REFERENCE   5  (bases 1 to 3484)
  AUTHORS   Demirel,O., Bangert,I., Tampe,R. and Abele,R.
  TITLE     Tuning the cellular trafficking of the lysosomal peptide
            transporter TAPL by its N-terminal domain
  JOURNAL   Traffic 11 (3), 383-393 (2010)
   PUBMED   20377823
  REMARK    GeneRIF: By dissecting ABCB9, distinct functions were assigned to
            the core complex and the extra N-terminal transmembrane domain.
REFERENCE   6  (bases 1 to 3484)
  AUTHORS   Kobayashi,A., Hori,S., Suita,N. and Maeda,M.
  TITLE     Gene organization of human transporter associated with antigen
            processing-like (TAPL, ABCB9): analysis of alternative splicing
            variants and promoter activity
  JOURNAL   Biochem Biophys Res Commun 309 (4), 815-822 (2003)
   PUBMED   13679046
REFERENCE   7  (bases 1 to 3484)
  AUTHORS   Kobayashi,A., Kasano,M., Maeda,T., Hori,S., Motojima,K., Suzuki,M.,
            Fujiwara,T., Takahashi,E., Yabe,T., Tanaka,K., Kasahara,M.,
            Yamaguchi,Y. and Maeda,M.
  TITLE     A half-type ABC transporter TAPL is highly conserved between rodent
            and man, and the human gene is not responsive to interferon-gamma
            in contrast to TAP1 and TAP2
  JOURNAL   J Biochem 128 (4), 711-718 (2000)
   PUBMED   11011155
REFERENCE   8  (bases 1 to 3484)
  AUTHORS   Zhang,F., Zhang,W., Liu,L., Fisher,C.L., Hui,D., Childs,S.,
            Dorovini-Zis,K. and Ling,V.
  TITLE     Characterization of ABCB9, an ATP binding cassette protein
            associated with lysosomes
  JOURNAL   J Biol Chem 275 (30), 23287-23294 (2000)
   PUBMED   10748049
REFERENCE   9  (bases 1 to 3484)
  AUTHORS   Allikmets,R., Gerrard,B., Hutchinson,A. and Dean,M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
REFERENCE   10 (bases 1 to 3484)
  AUTHORS   Dyan,A., Martin,J.P., Saint-Paul,M., Baud,F. and Bignon,J.
  TITLE     [Phenotype Pi and alpha 1 antitrypsin deficiency in types A and B
            chronic obstructive bronchopneumopathies]
  JOURNAL   Pathol Biol (Paris) 23 (7), 525-533 (1975)
   PUBMED   1101155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA796102.1, AF216494.1 and
            CA503047.1.
            
            On Nov 23, 2018 this sequence version replaced NM_019625.3.
            
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intra-cellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White). This protein is a member of the MDR/TAP subfamily. Members
            of the MDR/TAP subfamily are involved in multidrug resistance as
            well as antigen presentation. This family member functions in the
            translocation of peptides from the cytosol into the lysosomal
            lumen. Alternative splicing of this gene results in distinct
            isoforms which are likely to have different substrate
            specificities. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1, also known as 12A) represents
            the longest transcript and encodes the longest isoform (1).
            
            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 :: AF216494.1, AB177852.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280560.13/ ENSP00000280560.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-498               DA796102.1         47-544
            499-3056            AF216494.1         533-3090
            3057-3484           CA503047.1         17-444              c
FEATURES             Location/Qualifiers
     source          1..3484
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3484
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /note="ATP binding cassette subfamily B member 9"
                     /db_xref="GeneID:23457"
                     /db_xref="HGNC:HGNC:50"
                     /db_xref="MIM:605453"
     exon            1..177
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            178..865
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..2565
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /EC_number="7.4.2.6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATP-binding cassette sub-family B member 9; TAP-like
                     protein; ABC transporter 9 protein; ATP-binding cassette,
                     sub-family B (MDR/TAP), member 9; ABC-type oligopeptide
                     transporter ABCB9"
                     /codon_start=1
                     /product="ABC-type oligopeptide transporter ABCB9 isoform
                     1"
                     /protein_id="NP_062571.1"
                     /db_xref="CCDS:CCDS9241.1"
                     /db_xref="GeneID:23457"
                     /db_xref="HGNC:HGNC:50"
                     /db_xref="MIM:605453"
                     /translation="MRLWKAVVVTLAFMSVDICVTTAIYVFSHLDRSLLEDIRHFNIF
                     DSVLDLWAACLYRSCLLLGATIGVAKNSALGPRRLRASWLVITLVCLFVGIYAMVKLL
                     LFSEVRRPIRDPWFWALFVWTYISLGASFLLWWLLSTVRPGTQALEPGAATEAEGFPG
                     SGRPPPEQASGATLQKLLSYTKPDVAFLVAASFFLIVAALGETFLPYYTGRAIDGIVI
                     QKSMDQFSTAVVIVCLLAIGSSFAAGIRGGIFTLIFARLNIRLRNCLFRSLVSQETSF
                     FDENRTGDLISRLTSDTTMVSDLVSQNINVFLRNTVKVTGVVVFMFSLSWQLSLVTFM
                     GFPIIMMVSNIYGKYYKRLSKEVQNALARASNTAEETISAMKTVRSFANEEEEAEVYL
                     RKLQQVYKLNRKEAAAYMYYVWGSGLTLLVVQVSILYYGGHLVISGQMTSGNLIAFII
                     YEFVLGDCMESVGSVYSGLMQGVGAAEKVFEFIDRQPTMVHDGSLAPDHLEGRVDFEN
                     VTFTYRTRPHTQVLQNVSFSLSPGKVTALVGPSGSGKSSCVNILENFYPLEGGRVLLD
                     GKPISAYDHKYLHRVISLVSQEPVLFARSITDNISYGLPTVPFEMVVEAAQKANAHGF
                     IMELQDGYSTETGEKGAQLSGGQKQRVAMARALVRNPPVLILDEATSALDAESEYLIQ
                     QAIHGNLQKHTVLIIAHRLSTVEHAHLIVVLDKGRVVQQGTHQQLLAQGGLYAKLVQR
                     QMLGLQPAADFTAGHNEPVANGSHKA"
     exon            866..980
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1111
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1317
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1515
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..1644
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..1833
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1834..2007
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2167
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2304
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     exon            2305..3484
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3457..3462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /note="hexamer: AATAAA"
     polyA_site      3484
                     /gene="ABCB9"
                     /gene_synonym="EST122234; TAPL"
                     /note="major polyA site"
ORIGIN      
        1 agtctcagct ccgaccttgc agcggcgcag cgcgggtggg aggcggggag gagcagcggg
       61 aagagcggag cgaggaccgc gtccggcgca gtcttcaatg agcagcgcgg aaactgcacc
      121 ccagacccga gcctgctgcg cgccccctcc cagagctcac ctggtgccag gtaacaggcc
      181 tggcctcgcc ctgtggatga tgatggcctt gcccccgtga gctacaacct ggccttcagc
      241 acccgcccac ctccaaccag caggatgcgg ctgtggaagg cggtggtggt gactttggcc
      301 ttcatgagtg tggacatctg cgtgaccacg gccatctatg tcttcagcca cctggaccgc
      361 agcctcctgg aggacatccg ccacttcaac atctttgact cggtgctgga tctctgggca
      421 gcctgcctgt accgcagctg cctgctgctg ggagccacca ttggtgtggc caagaacagt
      481 gcgctggggc cccggcggct gcgggcctcg tggctggtca tcaccctcgt gtgcctcttc
      541 gtgggcatct atgccatggt gaagctgctg ctcttctcag aggtgcgcag gcccatccgg
      601 gacccctggt tttgggccct gttcgtgtgg acgtacattt cactcggcgc atccttcctg
      661 ctctggtggc tgctgtccac cgtgcggcca ggcacccagg ccctggagcc aggggcggcc
      721 accgaggctg agggcttccc tgggagcggc cggccaccgc ccgagcaggc gtctggggcc
      781 acgctgcaga agctgctctc ctacaccaag cccgacgtgg ccttcctcgt ggccgcctcc
      841 ttcttcctca tcgtggcagc tctgggagag accttcctgc cctactacac gggccgcgcc
      901 attgatggca tcgtcatcca gaaaagcatg gatcagttca gcacggctgt cgtcatcgtg
      961 tgcctgctgg ccattggcag ctcatttgcc gcaggtattc ggggcggcat ttttaccctc
     1021 atatttgcca gactgaacat tcgccttcga aactgtctct tccgctcact ggtgtcccag
     1081 gagacaagct tctttgatga gaaccgcaca ggggacctca tctcccgcct gacctcggac
     1141 accaccatgg tcagcgacct ggtctcccag aacatcaatg tcttcctgcg gaacacagtc
     1201 aaggtcacgg gcgtggtggt cttcatgttc agcctctcat ggcagctctc cttggtcacc
     1261 ttcatgggct tccccatcat catgatggtg tccaacatct acggcaagta ctacaagagg
     1321 ctctccaaag aggtccagaa tgccctggcc agagcgagca acacggcgga ggagaccatc
     1381 agtgccatga agactgtccg gagcttcgcc aatgaggagg aggaggcaga ggtgtacctg
     1441 cggaagctgc agcaggtgta caagctgaac aggaaggagg cagctgccta catgtactac
     1501 gtctggggca gcgggctcac actgctggtg gtccaggtca gcatcctcta ctacgggggc
     1561 caccttgtca tctcaggcca gatgaccagc ggcaacctca tcgccttcat catctacgag
     1621 tttgtcctgg gagattgtat ggagtccgtg ggctccgtct acagtggcct gatgcaggga
     1681 gtgggggctg ctgagaaggt gttcgagttc atcgaccggc agccgaccat ggtgcacgat
     1741 ggcagcttgg cccccgacca cctggagggc cgggtggact ttgagaatgt gaccttcacc
     1801 taccgcactc ggccccacac ccaggtcctg cagaatgtct ccttcagcct gtcccccggc
     1861 aaggtgacgg ccctggtggg gccctcgggc agtgggaaga gctcctgtgt caacatcctg
     1921 gagaacttct accccctgga ggggggccgg gtgctgctgg acggcaagcc catcagcgcc
     1981 tacgaccaca agtacttgca ccgtgtgatc tccctggtga gccaggagcc cgtgctgttc
     2041 gcccgctcca tcacggataa catctcctac ggcctgccca ctgtgccttt cgagatggtg
     2101 gtggaggccg cacagaaggc caatgcccac ggcttcatca tggaactcca ggacggctac
     2161 agcacagaga caggggagaa gggcgcccag ctgtcaggtg gccagaagca gcgggtggcc
     2221 atggcccggg ctctggtgcg gaacccccca gtcctcatcc tggatgaagc caccagcgct
     2281 ttggatgccg agagcgagta tctgatccag caggccatcc atggcaacct gcagaagcac
     2341 acggtactca tcatcgcgca ccggctgagc accgtggagc acgcgcacct cattgtggtg
     2401 ctggacaagg gccgcgtagt gcagcagggc acccaccagc agctgctggc ccagggcggc
     2461 ctctacgcca agctggtgca gcggcagatg ctggggcttc agcccgccgc agacttcaca
     2521 gctggccaca acgagcctgt agccaacggc agtcacaagg cctgatgggg ggcccctgct
     2581 tctcccggtg gggcagagga cccggtgcct gcctggcaga tgtgcccacg gaggccccca
     2641 gctgccctcc gagcccaggc ctgcagcact gaaagacgac ctgccatgtc ccatggatca
     2701 ccgcttcctg catcttgccc ctggtccctg ccccattccc agggcactcc ttacccctgc
     2761 tgccctgagc caacgccttc acggacctcc ctagcctcct aagcaaaggt agagctgcct
     2821 ttttaaacct aggtcttacc agggttttta ctgtttggtt tgaggcaccc cagtcaactc
     2881 ctagatttca aaaacctttt tctaattggg agtaatggcg ggcactttca ccaagatgtt
     2941 ctagaaactt ctgagccagg agtgaatggc ccttccttag tagcctgggg gatgtccaga
     3001 gactaggcct ctccccttta cccctccaga gaaggggctt ccctgtcccg gagggagaca
     3061 cggggaacgg gattttccgt ctctccctct tgccagctct gtgagtctgg ccagggcggg
     3121 tagggagcgt ggagggcatc tgtctgccat cgcccgctgc caatctaagc cagtctcact
     3181 gtgaaccaca cgaaacctca actgggggag tgaggggctg gccaggtctg gaggggcctc
     3241 aggggtgccc ccagcccggc acccagcgct ttcgcccctc gtccacccac ccctggctgg
     3301 cagcctccct ccccacaccc gcccctgtgc tctgctgtct ggaggccacg tggatgttca
     3361 tgagatgcat tctcttctgt ctttggtgga tgggatggtg gcaaagccca ggatctggct
     3421 ttgccagagg ttgcaacatg ttgagagaac ccggtcaata aagtgtacta cctcttaccc
     3481 ctaa
//
