LOCUS       NM_001349828            2842 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 6 (LAN blood
            group) (ABCB6), transcript variant 2, mRNA.
ACCESSION   NM_001349828
VERSION     NM_001349828.2
KEYWORDS    RefSeq.
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 2842)
  AUTHORS   Choi,S.H., Lee,S.S., Lee,H.Y., Kim,S., Kim,J.W. and Jin,M.S.
  TITLE     Cryo-EM structure of cadmium-bound human ABCB6
  JOURNAL   Commun Biol 7 (1), 672 (2024)
   PUBMED   38822018
  REMARK    GeneRIF: Cryo-EM structure of cadmium-bound human ABCB6.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2842)
  AUTHORS   Singh,H., Shyamveer, Mahajan,S.D., Aalinkeel,R., Kaliyappan,K.,
            Schwartz,S.A., Bhattacharya,M., Parvez,M.K. and Al-Dosari,M.S.
  TITLE     Identification of novel genetic variations in ABCB6 and GRN genes
            associated with HIV-associated lipodystrophy
  JOURNAL   Clin Chim Acta 556, 117830 (2024)
   PUBMED   38354999
  REMARK    GeneRIF: Identification of novel genetic variations in ABCB6 and
            GRN genes associated with HIV-associated lipodystrophy.
REFERENCE   3  (bases 1 to 2842)
  AUTHORS   Lee,S.S., Park,J.G., Jang,E., Choi,S.H., Kim,S., Kim,J.W. and
            Jin,M.S.
  TITLE     W546 stacking disruption traps the human porphyrin transporter
            ABCB6 in an outward-facing transient state
  JOURNAL   Commun Biol 6 (1), 960 (2023)
   PUBMED   37735522
  REMARK    GeneRIF: W546 stacking disruption traps the human porphyrin
            transporter ABCB6 in an outward-facing transient state.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2842)
  AUTHORS   Shibahara,M., Kurita,T., Murakami,M., Harada,H., Koi,C., Izumi,H.
            and Yoshino,K.
  TITLE     Association of UBE2L6 and ABCB6 Expression With Platinum Resistance
            in Serous Ovarian Carcinoma
  JOURNAL   Anticancer Res 43 (8), 3787-3792 (2023)
   PUBMED   37500176
  REMARK    GeneRIF: Association of UBE2L6 and ABCB6 Expression With Platinum
            Resistance in Serous Ovarian Carcinoma.
REFERENCE   5  (bases 1 to 2842)
  AUTHORS   She,Q., Dong,Y., Li,D., An,R., Zhou,T., Nie,X., Pan,R. and Deng,Y.
  TITLE     ABCB6 knockdown suppresses melanogenesis through the
            GSK3-beta/beta-catenin signaling axis in human melanoma and
            melanocyte cell lines
  JOURNAL   J Dermatol Sci 106 (2), 101-110 (2022)
   PUBMED   35461746
  REMARK    GeneRIF: ABCB6 knockdown suppresses melanogenesis through the
            GSK3-beta/beta-catenin signaling axis in human melanoma and
            melanocyte cell lines.
REFERENCE   6  (bases 1 to 2842)
  AUTHORS   Visapaa,I., Fellman,V., Lanyi,L. and Peltonen,L.
  TITLE     ABCB6 (MTABC3) excluded as the causative gene for the growth
            retardation syndrome with aminoaciduria, cholestasis, iron
            overload, and lactacidosis
  JOURNAL   Am J Med Genet 109 (3), 202-205 (2002)
   PUBMED   11977179
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2842)
  AUTHORS   Emadi-Konjin,H.P., Zhang,H., Anandan,V., Sun,D., Schuetz,J. and
            Furuya,K.N.
  TITLE     Isolation of a genomic clone containing the promoter region of the
            human ATP binding cassette (ABC) transporter, ABCB6
  JOURNAL   Biochim Biophys Acta 1574 (2), 117-130 (2002)
   PUBMED   11955620
REFERENCE   8  (bases 1 to 2842)
  AUTHORS   Mitsuhashi,N., Miki,T., Senbongi,H., Yokoi,N., Yano,H.,
            Miyazaki,M., Nakajima,N., Iwanaga,T., Yokoyama,Y., Shibata,T. and
            Seino,S.
  TITLE     MTABC3, a novel mitochondrial ATP-binding cassette protein involved
            in iron homeostasis
  JOURNAL   J Biol Chem 275 (23), 17536-17540 (2000)
   PUBMED   10837493
REFERENCE   9  (bases 1 to 2842)
  AUTHORS   Furuya,K.N., Bradley,G., Sun,D., Schuetz,E.G. and Schuetz,J.D.
  TITLE     Identification of a new P-glycoprotein-like ATP-binding cassette
            transporter gene that is overexpressed during hepatocarcinogenesis
  JOURNAL   Cancer Res 57 (17), 3708-3716 (1997)
   PUBMED   9288777
REFERENCE   10 (bases 1 to 2842)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068946.4.
            
            On May 31, 2019 this sequence version replaced NM_001349828.1.
            
            Summary: This gene encodes a member of the ATP-binding cassette
            (ABC) transporter superfamily. ABC proteins transport various
            molecules across extra- and intra-cellular membranes. This protein
            is a member of the heavy metal importer subfamily and plays a role
            in porphyrin transport. This gene is the molecular basis of the
            Langereis (Lan) blood group antigen and mutations in this gene
            underlie familial pseudohyperkalemia and dyschromatosis universalis
            hereditaria. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            
            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.
            
            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 :: SRR11853560.17376.1,
                                           SRR14038192.714525.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-834               AC068946.4         112483-113316       c
            835-1015            AC068946.4         111010-111190       c
            1016-1117           AC068946.4         110722-110823       c
            1118-1301           AC068946.4         110355-110538       c
            1302-1423           AC068946.4         109319-109440       c
            1424-1533           AC068946.4         108747-108856       c
            1534-1599           AC068946.4         108479-108544       c
            1600-1725           AC068946.4         108184-108309       c
            1726-1802           AC068946.4         107948-108024       c
            1803-1866           AC068946.4         107797-107860       c
            1867-1952           AC068946.4         107599-107684       c
            1953-2010           AC068946.4         107366-107423       c
            2011-2115           AC068946.4         106745-106849       c
            2116-2290           AC068946.4         105292-105466       c
            2291-2403           AC068946.4         105069-105181       c
            2404-2498           AC068946.4         104739-104833       c
            2499-2567           AC068946.4         104588-104656       c
            2568-2842           AC068946.4         104130-104404       c
FEATURES             Location/Qualifiers
     source          1..2842
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2842
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /note="ATP binding cassette subfamily B member 6 (LAN
                     blood group)"
                     /db_xref="GeneID:10058"
                     /db_xref="HGNC:HGNC:47"
                     /db_xref="MIM:605452"
     exon            1..834
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     CDS             286..2676
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /EC_number="7.6.2.5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ATP-binding cassette, sub-family B (MDR/TAP), member 6
                     (Langereis blood group); ATP-binding cassette
                     half-transporter; mt-ABC transporter 3; ATP binding
                     cassette subfamily B member 6 (Langereis blood group);
                     P-glycoprotein-related protein; mitochondrial ABC
                     transporter 3; ubiquitously-expressed mammalian ABC half
                     transporter; ABC-type heme transporter ABCB6; ATP-binding
                     cassette sub-family B member 6"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family B member 6
                     isoform 2"
                     /protein_id="NP_001336757.1"
                     /db_xref="CCDS:CCDS86920.1"
                     /db_xref="GeneID:10058"
                     /db_xref="HGNC:HGNC:47"
                     /db_xref="MIM:605452"
                     /translation="MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLAL
                     VLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAP
                     LPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAA
                     ENLALVSWNSPQWWWARADLGQQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLV
                     VLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFLQGGGTGS
                     TGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSV
                     TGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLCMSLYLTLTIVVTEWRTKF
                     RRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVL
                     LNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQLYMPLNWFGTYYRMI
                     QTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYADGRETLQDVSFT
                     VMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQASLRSHIGVVP
                     QDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQVGERGLKLS
                     GGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIVVAHRLS
                     TVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTMER"
     exon            835..1015
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1117
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1301
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1423
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1533
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1599
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1725
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1802
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..1866
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1952
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1953..2010
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2115
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2116..2290
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2291..2403
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2404..2498
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2499..2567
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2568..2842
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2824..2829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /note="hexamer: AATAAA"
     polyA_site      2842
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /note="major polyA site"
ORIGIN      
        1 attcccgtgg gcctgcagtt ggcaggaggg tcccgggccc agagccagcg gggccgtgct
       61 gagacggcgt acgtgccctg cgtgagtgcg tggcggcggc gcgtgcgcta ggggagtggg
      121 cggtgaggcc tggtccacgt gcgtcccttc ccgggacccc cgcagcttgg cgcccagcgg
      181 ctacgtgagc caaggcaccc ggatgtccgc gcccctctcc gagtgaccag tcccggcctc
      241 cggtcccgca gtgcccgcag cctcggccgg cgtccacgca ttgccatggt gactgtgggc
      301 aactactgcg aggccgaagg gcccgtgggt ccggcctgga tgcaggatgg cctgagtccc
      361 tgcttcttct tcacgctcgt gccctcgacg cggatggctc tggggactct ggccttggtg
      421 ctggctcttc cctgcagacg ccgggagcgg cccgctggtg ctgattcgct gtcttggggg
      481 gccggccctc gcatctctcc ctacgtgctg cagctgcttc tggccacact tcaggcggcg
      541 ctgcccctgg ccggcctggc tggccgggtg ggcactgccc ggggggcccc actgccaagc
      601 tatctacttc tggcctccgt gctggagagt ctggccggcg cctgtggcct gtggctgctt
      661 gtcgtggagc ggagccaggc acggcagcgt ctggcaatgg gcatctggat caagttcagg
      721 cacagccctg gtctcctgct cctctggact gtggcgtttg cagctgagaa cttggccctg
      781 gtgtcttgga acagcccaca gtggtggtgg gcaagggcag acttgggcca gcaggttcgg
      841 tcagcagccc aacagtctac ctggcgagat tttggcagga agctccgcct cctgagtggc
      901 tacctgtggc ctcgagggag tccagctctg cagctggtgg tgctcatctg cctggggctc
      961 atgggtttgg aacgggcact caatgtgttg gtgcctatat tctataggaa cattgtgaac
     1021 ttgctgactg agaaggcacc ttggaactct ctggcctgga ctgttaccag ttacgtcttc
     1081 ctcaagttcc tccagggggg tggcactggc agtacaggct tcgtgagcaa cctgcgcacc
     1141 ttcctgtgga tccgggtgca gcagttcacg tctcggcggg tggagctgct catcttctcc
     1201 cacctgcacg agctctcact gcgctggcac ctggggcgcc gcacagggga ggtgctgcgg
     1261 atcgcggatc ggggcacatc cagtgtcaca gggctgctca gctacctggt gttcaatgtc
     1321 atccccacgc tggccgacat catcattggc atcatctact tcagcatgtt cttcaacgcc
     1381 tggtttggcc tcattgtgtt cctgtgcatg agtctttacc tcaccctgac cattgtggtc
     1441 actgagtgga gaaccaagtt tcgtcgtgct atgaacacac aggagaacgc tacccgggca
     1501 cgagcagtgg actctctgct aaacttcgag acggtgaagt attacaacgc cgagagttac
     1561 gaagtggaac gctatcgaga ggccatcatc aaatatcagg gtttggagtg gaagtcgagc
     1621 gcttcactgg ttttactaaa tcagacccag aacctggtga ttgggctcgg gctcctcgcc
     1681 ggctccctgc tttgcgcata ctttgtcact gagcagaagc tacaggttgg ggactatgtg
     1741 ctctttggca cctacattat ccagctgtac atgcccctca attggtttgg cacctactac
     1801 aggatgatcc agaccaactt cattgacatg gagaacatgt ttgacttgct gaaagaggag
     1861 acagaagtga aggaccttcc tggagcaggg ccccttcgct ttcagaaggg ccgtattgag
     1921 tttgagaacg tgcacttcag ctatgccgat gggcgggaga ctctgcagga cgtgtctttc
     1981 actgtgatgc ctggacagac acttgccctg gtgggcccat ctggggcagg gaagagcaca
     2041 attttgcgcc tgctgtttcg cttctacgac atcagctctg gctgcatccg aatagatggg
     2101 caggacattt cacaggtgac ccaggcctct ctccggtctc acattggagt tgtgccccaa
     2161 gacactgtcc tctttaatga caccatcgcc gacaatatcc gttacggccg tgtcacagct
     2221 gggaatgatg aggtggaggc tgctgctcag gctgcaggca tccatgatgc cattatggct
     2281 ttccctgaag ggtacaggac acaggtgggc gagcggggac tgaagctgag cggcggggag
     2341 aagcagcgcg tcgccattgc ccgcaccatc ctcaaggctc cgggcatcat tctgctggat
     2401 gaggcaacgt cagcgctgga tacatctaat gagagggcca tccaggcttc tctggccaaa
     2461 gtctgtgcca accgcaccac catcgtagtg gcacacaggc tctcaactgt ggtcaatgct
     2521 gaccagatcc tcgtcatcaa ggatggctgc atcgtggaga ggggacgaca cgaggctctg
     2581 ttgtcccgag gtggggtgta tgctgacatg tggcagctgc agcagggaca ggaagaaacc
     2641 tctgaagaca ctaagcctca gaccatggaa cggtgacaaa agtttggcca cttccctctc
     2701 aaagactaac ccagaaggga ataagatgtg tctcctttcc ctggcttatt tcatcctggt
     2761 cttggggtat ggtgctagct atggtaaggg aaagggacct ttccgaaaaa catcttttgg
     2821 ggaaataaaa atgtggactg tg
//
