LOCUS       NM_001392028            2392 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily C member 12 (ABCC12),
            transcript variant 2, mRNA.
ACCESSION   NM_001392028
VERSION     NM_001392028.1
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 2392)
  AUTHORS   Pham,D.H., Kudira,R., Xu,L., Valencia,C.A., Ellis,J.L., Shi,T.,
            Evason,K.J., Osuji,I., Matuschek,N., Pfuhler,L., Mullen,M.,
            Mohanty,S.K., Husami,A., Bull,L.N., Zhang,K., Wali,S., Yin,C. and
            Miethke,A.
  TITLE     Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic
            Cholestasis and Cause Intrahepatic Bile Duct Loss in Model
            Organisms
  JOURNAL   Gastroenterology 161 (1), 287-300 (2021)
   PUBMED   33771553
  REMARK    GeneRIF: Deleterious Variants in ABCC12 are Detected in Idiopathic
            Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model
            Organisms.
REFERENCE   2  (bases 1 to 2392)
  AUTHORS   Xie,T., Deng,L., Mei,P., Zhou,Y., Wang,B., Zhang,J., Lin,J.,
            Wei,Y., Zhang,X. and Xu,R.
  TITLE     Genome-wide association study combining pathway analysis for
            typical sporadic amyotrophic lateral sclerosis in Chinese Han
            populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   3  (bases 1 to 2392)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2392)
  AUTHORS   Ono,N., Van der Heijden,I., Scheffer,G.L., Van de Wetering,K., Van
            Deemter,E., De Haas,M., Boerke,A., Gadella,B.M., De Rooij,D.G.,
            Neefjes,J.J., Groothuis,T.A., Oomen,L., Brocks,L., Ishikawa,T. and
            Borst,P.
  TITLE     Multidrug resistance-associated protein 9 (ABCC12) is present in
            mouse and boar sperm
  JOURNAL   Biochem J 406 (1), 31-40 (2007)
   PUBMED   17472575
REFERENCE   5  (bases 1 to 2392)
  AUTHORS   Haimeur,A., Conseil,G., Deeley,R.G. and Cole,S.P.
  TITLE     The MRP-related and BCRP/ABCG2 multidrug resistance proteins:
            biology, substrate specificity and regulation
  JOURNAL   Curr Drug Metab 5 (1), 21-53 (2004)
   PUBMED   14965249
  REMARK    Review article
REFERENCE   6  (bases 1 to 2392)
  AUTHORS   Bera,T.K., Iavarone,C., Kumar,V., Lee,S., Lee,B. and Pastan,I.
  TITLE     MRP9, an unusual truncated member of the ABC transporter
            superfamily, is highly expressed in breast cancer
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6997-7002 (2002)
   PUBMED   12011458
REFERENCE   7  (bases 1 to 2392)
  AUTHORS   Yabuuchi,H., Shimizu,H., Takayanagi,S. and Ishikawa,T.
  TITLE     Multiple splicing variants of two new human ATP-binding cassette
            transporters, ABCC11 and ABCC12
  JOURNAL   Biochem Biophys Res Commun 288 (4), 933-939 (2001)
   PUBMED   11688999
  REMARK    GeneRIF: alternative splice variants and gene expression
REFERENCE   8  (bases 1 to 2392)
  AUTHORS   Tammur,J., Prades,C., Arnould,I., Rzhetsky,A., Hutchinson,A.,
            Adachi,M., Schuetz,J.D., Swoboda,K.J., Ptacek,L.J., Rosier,M.,
            Dean,M. and Allikmets,R.
  TITLE     Two new genes from the human ATP-binding cassette transporter
            superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome
            16q12
  JOURNAL   Gene 273 (1), 89-96 (2001)
   PUBMED   11483364
REFERENCE   9  (bases 1 to 2392)
  AUTHORS   Dean,M., Rzhetsky,A. and Allikmets,R.
  TITLE     The human ATP-binding cassette (ABC) transporter superfamily
  JOURNAL   Genome Res 11 (7), 1156-1166 (2001)
   PUBMED   11435397
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096996.2.
            
            Summary: This gene is a member of the superfamily of ATP-binding
            cassette (ABC) transporters and the encoded protein contains two
            ATP-binding domains and 12 transmembrane regions. ABC proteins
            transport various molecules across extra- and intracellular
            membranes. ABC genes are divided into seven distinct subfamilies:
            ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a
            member of the MRP subfamily which is involved in multi-drug
            resistance. This gene and another subfamily member are arranged
            head-to-tail on chromosome 16q12.1. Increased expression of this
            gene is associated with breast cancer. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122635.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               AC096996.2         141741-141893       c
            154-322             AC096996.2         132206-132374       c
            323-478             AC096996.2         129810-129965       c
            479-626             AC096996.2         127106-127253       c
            627-860             AC096996.2         126587-126820       c
            861-1034            AC096996.2         125063-125236       c
            1035-1182           AC096996.2         124128-124275       c
            1183-1331           AC096996.2         119587-119735       c
            1332-1439           AC096996.2         116688-116795       c
            1440-1718           AC096996.2         114359-114637       c
            1719-1790           AC096996.2         110113-110184       c
            1791-2392           AC096996.2         107139-107740       c
FEATURES             Location/Qualifiers
     source          1..2392
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..2392
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="ATP binding cassette subfamily C member 12"
                     /db_xref="GeneID:94160"
                     /db_xref="HGNC:HGNC:14640"
                     /db_xref="MIM:607041"
     exon            1..153
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            154..322
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..1919
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="isoform 2 is encoded by transcript variant 2;
                     multidrug resistance-associated protein 9; ATP-binding
                     cassette transporter sub-family C member 12; ATP-binding
                     cassette sub-family C member 12; ATP-binding cassette,
                     sub-family C (CFTR/MRP), member 12"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family C member 12
                     isoform 2"
                     /protein_id="NP_001378957.1"
                     /db_xref="CCDS:CCDS92154.1"
                     /db_xref="GeneID:94160"
                     /db_xref="HGNC:HGNC:14640"
                     /db_xref="MIM:607041"
                     /translation="MVGEGPYLISDLDQRGRRRSFAERYDPSLKTMIPVRPCARLAPN
                     PVDDAGLLSFATFSWLTPVMVKGYRQRLTVDTLPPLSTYDSSDTNAKRFRVLWDEEVA
                     RVGPEKASLSHVVWKFQRTRVLMDIVANILCIIMAAIGPTVLIHQILQQTERTSGKVW
                     VGIGLCIALFATEFTKVFFWALAWAINYRTAIRLKVALSTLVFENLVSFKTLTHISVG
                     EVLNILSSDSYSLFEAALFCPLPATIPILMVFCAAYAFFILGPTALIGISVYVIFIPV
                     QMFMAKLNSAFRRSAILVTDKRVQTMNEFLTCIRLIKMYAWEKSFTNTIQDIRRRERK
                     LLEKAGFVQSGNSALAPIVSTIAIVLTLSCHILLRRKLTAPVAFSVIAMFNVMKFSIA
                     ILPFSIKAMAEANVSLRRMKKILIDKSPPSYITQPEDPDTVLLLANATLTWEHEASRK
                     STPKKLQNQKRHLCKKQRSEAYSERSPPAKGATGPEEQSDSLKSVLHSISFVVRKGKI
                     LGICGNVGSGKSSLLAALLGQMQLQKGVVAVNGTLAYVSQQAWIFHGNVRENILFGEK
                     YDHQR"
     exon            323..478
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            479..626
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            627..860
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1034
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1182
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1331
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1439
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1718
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1719..1790
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..2392
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2371..2376
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="hexamer: AATAAA"
     polyA_site      2392
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
ORIGIN      
        1 agttggagag gaggacttca ggcgggtggg acaagagaaa ctgaatctga ggtccttggg
       61 gagaagcagg ccctggagtc ctgggcagca gatgccaggc tctgagcccc atgactgctg
      121 accctcctcc cctccctctc atcctcagcc cagagtgaaa gtgtccccag gccaaaagcc
      181 cagggctcca ggctgccatc aggatggtgg gtgaaggacc ctaccttatc tcagatctgg
      241 accagcgagg ccggcggaga tcctttgcag aaagatatga ccccagcctg aagaccatga
      301 tcccagtgcg accctgtgca aggttagcac ccaacccggt ggatgatgcc gggctactct
      361 ccttcgccac attttcctgg ctcacgccgg tgatggtgaa aggctaccgg caaaggctga
      421 ccgtagacac cctgccccca ttgtcgacat atgactcatc tgacaccaat gccaaaagat
      481 ttcgagtcct ttgggatgaa gaggtagcaa gggtgggtcc tgagaaggcc tctctgagcc
      541 acgtggtgtg gaaattccag aggacacgcg tgttgatgga catcgtggcc aacatcctgt
      601 gcatcatcat ggcagccata gggccgacag ttctcattca ccaaatcctc cagcagactg
      661 agaggacctc tgggaaagtc tgggttggca ttggactgtg catagccctt tttgccaccg
      721 agtttaccaa agtcttcttt tgggcccttg cctgggccat caactaccgc acggccatcc
      781 ggttgaaggt ggcgctctcc accttggttt ttgaaaacct agtgtccttc aagacattga
      841 cccacatctc tgttggcgag gtgctcaata tactgtcaag tgatagctat tctttgtttg
      901 aagctgcctt gttttgtcct ttgccagcca ccatcccgat cctaatggtc ttttgtgcgg
      961 cgtacgcctt tttcattctg gggcccacag ctctcatcgg gatatcagtg tatgtcatat
     1021 tcatacccgt ccagatgttt atggccaagc tcaattcagc tttccgaagg tcagcaattt
     1081 tggtgacaga caagcgagtt cagacaatga atgagtttct gacctgcatc aggctgatca
     1141 aaatgtatgc ctgggagaaa tcttttacca acactatcca agatataaga aggagggaaa
     1201 gaaaattact ggaaaaagct ggatttgtcc aaagtggaaa ctctgccctg gcccccatcg
     1261 tgtccaccat agccatcgtg ctgacattat cctgccacat cctcctgaga cgcaaactca
     1321 ccgcacccgt ggcatttagt gtgattgcca tgtttaatgt aatgaagttt tccattgcaa
     1381 tcttgccctt ctccatcaaa gcaatggctg aagcgaatgt ctctctaagg agaatgaaga
     1441 aaattctcat agataaaagc cccccatctt acatcaccca accagaagac ccagatactg
     1501 tcttgctttt agcaaatgcc accttgacat gggagcatga agccagcagg aaaagtaccc
     1561 caaagaaatt gcagaaccag aaaaggcatt tatgcaagaa acagaggtca gaggcataca
     1621 gtgagaggag tccaccagcc aagggagcca ctggcccaga ggagcaaagt gacagcctca
     1681 aatcggttct gcacagcata agctttgtgg tgagaaaggg gaagatcttg ggaatatgtg
     1741 ggaatgtggg aagtggaaag agctccctcc ttgcagctct cctaggacag atgcagctgc
     1801 agaaaggggt ggtggcagtc aatggaactt tggcctacgt ttcacagcag gcatggatct
     1861 ttcatggaaa tgtgagagaa aacatactct ttggagaaaa gtatgatcac caaaggtaat
     1921 attaactttt aaagcaggag gcacatttgt gtttggtaca cactctccta cagatgctga
     1981 tgctgttggt aatgactgct aagtgggttc tgagtttaat gaattctgat taaacattca
     2041 tcagatccac acagacactg gttttcctct tcctgagcca agcgttcagg agaggcgact
     2101 tctgcagacc tgcgactgca cactgggaag aggatagaat cggcacttca ttcccagggc
     2161 agaggagcat atgttccgag gttctctgca acagggcata tgtggtctga ctagagaaaa
     2221 gtgaatccag caattttgct ttaggctgag tacccaaaac tgctcagaat catgagcaag
     2281 tatgtaatga atcagccctg acattattaa ttgacatcag agctatcagg atatattatc
     2341 actgttagtg tcctcagaat ggtctaacta aataaaaaca aagctcaact ta
//
