LOCUS       NM_001393798            3637 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily C member 12 (ABCC12),
            transcript variant 11, mRNA.
ACCESSION   NM_001393798 NR_171636
VERSION     NM_001393798.1
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 3637)
  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 3637)
  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 3637)
  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 3637)
  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 3637)
  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 3637)
  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 3637)
  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 3637)
  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 3637)
  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.
            
            On Mar 12, 2021 this sequence version replaced NR_171636.1.
            
            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 :: SRR1660805.54631.1,
                                           SRR5189667.358789.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               AC096996.2         77020-77121         c
            103-292             AC096996.2         74445-74634         c
            293-438             AC096996.2         73840-73985         c
            439-552             AC096996.2         71493-71606         c
            553-717             AC096996.2         69809-69973         c
            718-3637            AC096996.2         66782-69701         c
FEATURES             Location/Qualifiers
     source          1..3637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..3637
                     /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..102
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            103..292
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     CDS             196..804
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="isoform 4 is encoded by transcript variant 11;
                     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 4"
                     /protein_id="NP_001380727.1"
                     /db_xref="CCDS:CCDS92153.1"
                     /db_xref="GeneID:94160"
                     /db_xref="HGNC:HGNC:14640"
                     /db_xref="MIM:607041"
                     /translation="MRYRDNTPLVLDSLNLNIQSGQTVGIVGRTGSGKSSLGMALFRL
                     VEPASGTIFIDEVDICILSLEDLRTKLTVIPQDPVLFIMKLPEKLQAEVTENGENFSV
                     GERQLLCVARALLRNSKIILLDEATASMDSKTDTLVQNTIKDAFKGCTVLTIAHRLNT
                     VLNCDHVLVMENGKVIEFDKPEVLAEKPDSAFAMLLAAEVRL"
     exon            293..438
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            439..552
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            553..717
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     exon            718..3637
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1152..1157
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="hexamer: AATAAA"
     polyA_site      1177
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="major polyA site"
     regulatory      1389..1394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="hexamer: AACAAA"
     polyA_site      1415
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
     regulatory      3612..3617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="hexamer: AATAAA"
     polyA_site      3637
                     /gene="ABCC12"
                     /gene_synonym="MRP9"
                     /note="major polyA site"
ORIGIN      
        1 ccttttcaac agctgagcgg actgctccaa gtgtgtgtgc gaacgggaac agagacgcaa
       61 gccaaattca cctccgtgga gctgctcagg gaatacattt cgacctgtgt tcctgaatgc
      121 actcatcccc tcaaagtggg gacctgtccc aaggactggc ccagccgtgg ggagatcacc
      181 ttcagagact atcagatgag atacagagac aacacccccc ttgttctcga cagcctgaac
      241 ttgaacatac aaagtgggca gacagtcggg attgttggaa gaacaggttc cggaaagtca
      301 tcgttaggaa tggctttgtt tcgtctggtg gagccagcca gtggcacaat ctttattgat
      361 gaggtggata tctgcattct cagcttggaa gacctcagaa ccaagctgac tgtgatccca
      421 caggatcctg tcctgtttat aatgaaactc ccagaaaaat tacaggcaga agtcacagaa
      481 aatggagaaa acttctcagt aggggaacgt cagctgcttt gtgtggcccg agctcttctc
      541 cgtaattcaa agatcattct ccttgatgaa gccaccgcct ctatggactc caagactgac
      601 accctggttc agaacaccat caaagatgcc ttcaagggct gcactgtgct gaccatcgcc
      661 caccgcctca acacagttct caactgcgat cacgtcctgg ttatggaaaa tgggaaggtg
      721 attgagtttg acaagcctga agtccttgca gagaagccag attctgcatt tgcgatgtta
      781 ctagcagcag aagtcagatt gtagaggtcc tggcggctga ttctagagga ggaagaggct
      841 ctgtgagatg aataggagga gtcttcagga ggaggggctg tcctctccgc aggcagccct
      901 ggtcttcagc ccctcccatc cacggagtga gctggggctg aagttgtccc cactgccata
      961 ctcagtccat gtcaccccac ttggtgggct tggggttggt tctgggtggt gaaccggggc
     1021 agacccagct aatggattaa aaaactgccc ttcacctccc aaatccccaa gggttcctca
     1081 tgtgttttca ccaaaaccac cccagtgcct gagattgaaa atattgtaac tttcagttag
     1141 aaatcagcca caataaacaa catgggaaaa tgccttagga tggagtttgc aaggtttcct
     1201 tgcccattat cagaaggaaa aagagcagaa ttttcttctc gtttaacccc actcacttcc
     1261 atcttgactg ggtgacaagt ggtaatgaca cagatttgta gcgtgaaaga ctgaatacag
     1321 tgtttggcca aaaatttttt taaaaatcat attatatgtt tcaattgatc tgttagaata
     1381 accaagaaaa caaaatgctg gagtttctct ataaatgaca cttttatatc ttctttattc
     1441 gtcgttaaaa cgcggtagga aattaccctg aaatgtcgcc ttgcaattat ttcactgaag
     1501 atattccaat ttccatacta tttcctccaa tagacccttg ttgccttctc ccttcactca
     1561 gtaatgaacc ttcacagtcg cttaccaaac aaaaagcttt ctctccaacc tggaggctgg
     1621 ttctgatgga agcagtaaag atgtattccc agcagcccca ggagtgagcg ctgctaactc
     1681 atggtgacat ttgggaaaaa aatatttata gaaaatccag caagctcttg tgtagtagcc
     1741 gccaaggggc acgctgggag ttctggctgt ttttcattca tcaggaatga aggccccatg
     1801 aggttccctg ggcctgcttt ccaggcccca ggctgagctc taaatgtagc tcagggcagt
     1861 gtggtcagca aagcttccag accacaaccc cccaccccac ttcccttgta agtgttggtc
     1921 acgtacttgc ttccccagac gtggaggaag gagtgcctgg cacctggaag cactcgggaa
     1981 acacttgtgg cagccatgaa tgacagcatc taatgaactc gctgaaacac agctgtggag
     2041 cctggcggac acccctccca ggtgtgtgtg catgttaaga gcttaatctg gatttctggc
     2101 caaaaagcca acagccagca attcaagggc tgggcatgtg aggttaacct ccaaccgatt
     2161 attctccagc cctcctccgg ccaggcctgg gcaggggtct acccaaccag cggggaggtg
     2221 agcacacctg gccttaggta gagcttataa cctggcaact gcatgaaagc cctggcccag
     2281 cagcttggca gcaatggatc ctgccctcag cagagggtgc actaagacat gtggctgaga
     2341 aggacgtgag ccagggggtt ccttctgtgg gcagctccag gccaagtgtg gatctctctg
     2401 tgaagggaca cagtgtatct ttgcctgatc tgagctttcc cccatggtgc atgaccctga
     2461 ctgaaggtca ttaaacccac atccacagcg ttctgagcag ctgctcccag ctgagtgtgg
     2521 gcatcacctt tatggacata agataacttc cccaatatga caagcagact gggcagtctg
     2581 tgctggccat gggaatccat gacagttgtg caatgtcagg gagggatgct ttactttcta
     2641 ccaactggac accagccaga taatcagtct gtgatttcaa gaggtggtgt tttcatgagg
     2701 acagaggata gactacaatg atccctgctg ctccttcaga tgcattgaga gatgaatcac
     2761 ctcctatgac tccttttctg cccacactcg ctttggttta ctctggcaga agaagaacac
     2821 cgacattgat cctgatgtct actgagacct tgcagtgtgc caggactgtg acaagcattt
     2881 tttccatgaa ttatttcact gaatcctcat ctcaccccat gagatgggat ttgaggctca
     2941 ctgaggttag taacttatct acagatgccc aggaaggaag ggacagagat agggcttgaa
     3001 ccctaaccag tctggctcca caggccctgc tcccaacccc ttcacaacaa agcccctcca
     3061 gtcctttccc cttggcctgt tgcaaggaca gtgatggtca tcagtatcat ccctggggga
     3121 gagtgacttc tgagggtttg gctgtttgca tgtataagac acgaaaccat cttagcaaac
     3181 ccctctccca ccccaacccc ttgctatcac tgccatgtca gccaagggga gactatgtag
     3241 aataatagta gccatttagc caaattcctc aaagcacagg cttaggttat taaatcctga
     3301 acatatccct gtggggtagg tgtctgctat gatctgaaca ttgtgttccc ccaaaatcct
     3361 cctgttgaaa cataatcctc agtgtgacag tatagaggta gggcctttag gaggtgatta
     3421 attaggtcat gagggtggag acctcatgaa taggattggc tctcttataa aagagacttg
     3481 gggaagcttg ttcacccctt cctccatgtg aggacacata gaaggcatca tctgtgagga
     3541 atgggccctc actcaacacc aaatctgttg gcacctcgac catggatttc ccagcgtcca
     3601 gaactgtgag caataaattt ctgttgttta taaatta
//
