LOCUS       NM_005689               2980 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 6 (LAN blood
            group) (ABCB6), transcript variant 1, mRNA.
ACCESSION   NM_005689
VERSION     NM_005689.4
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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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 2980)
  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, AF308472.1 and
            AW664349.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005689.3.
            
            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 (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC000559.2, AF308472.1 [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
            MANE Ensembl match                 :: ENST00000265316.9/
                                                  ENSP00000265316.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-402               AC068946.4         112915-113316       c
            403-2970            AF308472.1         424-2991
            2971-2980           AW664349.1         10-19               c
FEATURES             Location/Qualifiers
     source          1..2980
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2980
                     /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..2814
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /EC_number="7.6.2.5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_005680.1"
                     /db_xref="CCDS:CCDS2436.1"
                     /db_xref="GeneID:10058"
                     /db_xref="HGNC:HGNC:47"
                     /db_xref="MIM:605452"
                     /translation="MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLAL
                     VLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAP
                     LPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAA
                     ENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQV
                     HEEDQDVERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLER
                     ALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLW
                     IRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVI
                     PTLADIIIGIIYFSMFFNAWFGLIVFLCMSLYLTLTIVVTEWRTKFRRAMNTQENATR
                     ARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVLLNQTQNLVIGLG
                     LLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQLYMPLNWFGTYYRMIQTNFIDMENMFD
                     LLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYADGRETLQDVSFTVMPGQTLALVGP
                     SGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQASLRSHIGVVPQDTVLFNDTIAD
                     NIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQVGERGLKLSGGEKQRVAIART
                     ILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIVVAHRLSTVVNADQILVIK
                     DGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTMER"
     exon            835..972
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1153
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1255
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1439
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1561
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1671
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1737
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1863
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1940
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            1941..2004
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2090
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2091..2148
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2149..2253
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2254..2428
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2429..2541
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2542..2636
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2637..2705
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     exon            2706..2980
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2962..2967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB6"
                     /gene_synonym="ABC; LAN; MTABC3; PRP; umat"
                     /note="hexamer: AATAAA"
     polyA_site      2980
                     /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 gcaggttcag
      841 tttagcctgt gggtgctgcg gtatgtggtc tctggagggc tgtttgtcct gggtctctgg
      901 gcccctggac ttcgtcccca gtcctataca ttgcaggttc atgaagagga ccaagatgtg
      961 gaaaggagcc aggttcggtc agcagcccaa cagtctacct ggcgagattt tggcaggaag
     1021 ctccgcctcc tgagtggcta cctgtggcct cgagggagtc cagctctgca gctggtggtg
     1081 ctcatctgcc tggggctcat gggtttggaa cgggcactca atgtgttggt gcctatattc
     1141 tataggaaca ttgtgaactt gctgactgag aaggcacctt ggaactctct ggcctggact
     1201 gttaccagtt acgtcttcct caagttcctc caggggggtg gcactggcag tacaggcttc
     1261 gtgagcaacc tgcgcacctt cctgtggatc cgggtgcagc agttcacgtc tcggcgggtg
     1321 gagctgctca tcttctccca cctgcacgag ctctcactgc gctggcacct ggggcgccgc
     1381 acaggggagg tgctgcggat cgcggatcgg ggcacatcca gtgtcacagg gctgctcagc
     1441 tacctggtgt tcaatgtcat ccccacgctg gccgacatca tcattggcat catctacttc
     1501 agcatgttct tcaacgcctg gtttggcctc attgtgttcc tgtgcatgag tctttacctc
     1561 accctgacca ttgtggtcac tgagtggaga accaagtttc gtcgtgctat gaacacacag
     1621 gagaacgcta cccgggcacg agcagtggac tctctgctaa acttcgagac ggtgaagtat
     1681 tacaacgccg agagttacga agtggaacgc tatcgagagg ccatcatcaa atatcagggt
     1741 ttggagtgga agtcgagcgc ttcactggtt ttactaaatc agacccagaa cctggtgatt
     1801 gggctcgggc tcctcgccgg ctccctgctt tgcgcatact ttgtcactga gcagaagcta
     1861 caggttgggg actatgtgct ctttggcacc tacattatcc agctgtacat gcccctcaat
     1921 tggtttggca cctactacag gatgatccag accaacttca ttgacatgga gaacatgttt
     1981 gacttgctga aagaggagac agaagtgaag gaccttcctg gagcagggcc ccttcgcttt
     2041 cagaagggcc gtattgagtt tgagaacgtg cacttcagct atgccgatgg gcgggagact
     2101 ctgcaggacg tgtctttcac tgtgatgcct ggacagacac ttgccctggt gggcccatct
     2161 ggggcaggga agagcacaat tttgcgcctg ctgtttcgct tctacgacat cagctctggc
     2221 tgcatccgaa tagatgggca ggacatttca caggtgaccc aggcctctct ccggtctcac
     2281 attggagttg tgccccaaga cactgtcctc tttaatgaca ccatcgccga caatatccgt
     2341 tacggccgtg tcacagctgg gaatgatgag gtggaggctg ctgctcaggc tgcaggcatc
     2401 catgatgcca ttatggcttt ccctgaaggg tacaggacac aggtgggcga gcggggactg
     2461 aagctgagcg gcggggagaa gcagcgcgtc gccattgccc gcaccatcct caaggctccg
     2521 ggcatcattc tgctggatga ggcaacgtca gcgctggata catctaatga gagggccatc
     2581 caggcttctc tggccaaagt ctgtgccaac cgcaccacca tcgtagtggc acacaggctc
     2641 tcaactgtgg tcaatgctga ccagatcctc gtcatcaagg atggctgcat cgtggagagg
     2701 ggacgacacg aggctctgtt gtcccgaggt ggggtgtatg ctgacatgtg gcagctgcag
     2761 cagggacagg aagaaacctc tgaagacact aagcctcaga ccatggaacg gtgacaaaag
     2821 tttggccact tccctctcaa agactaaccc agaagggaat aagatgtgtc tcctttccct
     2881 ggcttatttc atcctggtct tggggtatgg tgctagctat ggtaagggaa agggaccttt
     2941 ccgaaaaaca tcttttgggg aaataaaaat gtggactgtg
//
