LOCUS       NM_016818               2976 bp    mRNA    linear   PRI 03-DEC-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily G member 1 (ABCG1),
            transcript variant 2, mRNA.
ACCESSION   NM_016818
VERSION     NM_016818.3
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 2976)
  AUTHORS   Yazdi,M.K., Alavi,M.S. and Roohbakhsh,A.
  TITLE     The role of ATP-binding cassette transporter G1 (ABCG1) in
            Alzheimer's disease: A review of the mechanisms
  JOURNAL   Basic Clin Pharmacol Toxicol 134 (4), 423-438 (2024)
   PUBMED   38275217
  REMARK    GeneRIF: The role of ATP-binding cassette transporter G1 (ABCG1) in
            Alzheimer's disease: A review of the mechanisms.
            Review article
REFERENCE   2  (bases 1 to 2976)
  AUTHORS   Zeng,G.G., Lei,Q., Jiang,W.L., Zhang,X.X., Nie,L., Gong,X. and
            Zheng,K.
  TITLE     A new perspective on the current and future development potential
            of ABCG1
  JOURNAL   Curr Probl Cardiol 49 (1 Pt C), 102161 (2024)
   PUBMED   37875209
  REMARK    GeneRIF: A new perspective on the current and future development
            potential of ABCG1.
            Review article
REFERENCE   3  (bases 1 to 2976)
  AUTHORS   Li,X., Shao,X., Kou,M., Wang,X., Ma,H., Grundberg,E., Bazzano,L.A.,
            Smith,S.R., Bray,G.A., Sacks,F.M. and Qi,L.
  TITLE     DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat
            Distribution in Response to Dietary Interventions: The POUNDS Lost
            Trial
  JOURNAL   Diabetes Care 46 (12), 2201-2207 (2023)
   PUBMED   37770056
  REMARK    GeneRIF: DNA Methylation at ABCG1 and Long-term Changes in
            Adiposity and Fat Distribution in Response to Dietary
            Interventions: The POUNDS Lost Trial.
REFERENCE   4  (bases 1 to 2976)
  AUTHORS   Jin,J., Zhao,X., Zhu,C., Li,M., Wang,J., Fan,Y., Liu,C., Shen,C.
            and Yang,R.
  TITLE     Hypomethylation of ABCG1 in peripheral blood as a potential marker
            for the detection of coronary heart disease
  JOURNAL   Clin Epigenetics 15 (1), 120 (2023)
   PUBMED   37507725
  REMARK    GeneRIF: Hypomethylation of ABCG1 in peripheral blood as a
            potential marker for the detection of coronary heart disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2976)
  AUTHORS   Zhou,W., Sun,J., Huai,C., Liu,Y., Chen,L., Yi,Z., Lv,Q., Song,C.,
            Zhu,W., Liu,C., Weng,S., Wu,H., Sun,Y., Zhang,R., Wu,L., Li,M.,
            Zhu,J., Zhang,Y., Wei,M., Guo,Y., Huang,S., Zhang,N., Shen,R.,
            Zhang,Y., Du,H., Huang,H., He,L., Sun,X., Shen,L. and Qin,S.
  TITLE     Multi-omics analysis identifies rare variation in leptin/PPAR gene
            sets and hypermethylation of ABCG1 contribute to
            antipsychotics-induced metabolic syndromes
  JOURNAL   Mol Psychiatry 27 (12), 5195-5205 (2022)
   PUBMED   36065016
  REMARK    GeneRIF: Multi-omics analysis identifies rare variation in
            leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to
            antipsychotics-induced metabolic syndromes.
REFERENCE   6  (bases 1 to 2976)
  AUTHORS   Venkateswaran,A., Repa,J.J., Lobaccaro,J.M., Bronson,A.,
            Mangelsdorf,D.J. and Edwards,P.A.
  TITLE     Human white/murine ABC8 mRNA levels are highly induced in
            lipid-loaded macrophages. A transcriptional role for specific
            oxysterols
  JOURNAL   J Biol Chem 275 (19), 14700-14707 (2000)
   PUBMED   10799558
REFERENCE   7  (bases 1 to 2976)
  AUTHORS   Klucken,J., Buchler,C., Orso,E., Kaminski,W.E.,
            Porsch-Ozcurumez,M., Liebisch,G., Kapinsky,M., Diederich,W.,
            Drobnik,W., Dean,M., Allikmets,R. and Schmitz,G.
  TITLE     ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a
            regulator of macrophage cholesterol and phospholipid transport
  JOURNAL   Proc Natl Acad Sci U S A 97 (2), 817-822 (2000)
   PUBMED   10639163
REFERENCE   8  (bases 1 to 2976)
  AUTHORS   Croop,J.M., Tiller,G.E., Fletcher,J.A., Lux,M.L., Raab,E.,
            Goldenson,D., Son,D., Arciniegas,S. and Wu,R.L.
  TITLE     Isolation and characterization of a mammalian homolog of the
            Drosophila white gene
  JOURNAL   Gene 185 (1), 77-85 (1997)
   PUBMED   9034316
REFERENCE   9  (bases 1 to 2976)
  AUTHORS   Savary,S., Denizot,F., Luciani,M., Mattei,M. and Chimini,G.
  TITLE     Molecular cloning of a mammalian ABC transporter homologous to
            Drosophila white gene
  JOURNAL   Mamm Genome 7 (9), 673-676 (1996)
   PUBMED   8703120
REFERENCE   10 (bases 1 to 2976)
  AUTHORS   Chen,H., Rossier,C., Lalioti,M.D., Lynn,A., Chakravarti,A.,
            Perrin,G. and Antonarakis,S.E.
  TITLE     Cloning of the cDNA for a human homologue of the Drosophila white
            gene and mapping to chromosome 21q22.3
  JOURNAL   Am J Hum Genet 59 (1), 66-75 (1996)
   PUBMED   8659545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001622.1, BC029158.1 and
            X91249.1.
            
            On Feb 27, 2020 this sequence version replaced NM_016818.2.
            
            Summary: The 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 White subfamily. It is involved in
            macrophage cholesterol and phospholipids transport, and may
            regulate cellular lipid homeostasis in other cell types. Six
            alternative splice variants have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' end-region
            compared to variant 1, which includes a part of the coding region.
            The resulting isoform (2) has a distinct and shorter N-terminus, as
            compared to 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 :: BC029158.1, AF323663.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398449.8/ ENSP00000381467.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AP001622.1         78267-78283
            18-2366             BC029158.1         1-2349
            2367-2755           X91249.1           2301-2689
            2756-2976           BC029158.1         2740-2960
FEATURES             Location/Qualifiers
     source          1..2976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2976
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /note="ATP binding cassette subfamily G member 1"
                     /db_xref="GeneID:9619"
                     /db_xref="HGNC:HGNC:73"
                     /db_xref="MIM:603076"
     exon            1..165
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..2124
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /note="isoform 2 is encoded by transcript variant 2; ABC
                     transporter 8; ATP-binding cassette transporter 8; homolog
                     of Drosophila white; ATP-binding cassette sub-family G
                     member 1; ATP-binding cassette transporter member 1 of
                     subfamily G; white protein homolog (ATP-binding cassette
                     transporter 8); ATP-binding cassette, sub-family G
                     (WHITE), member 1"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family G member 1
                     isoform 2"
                     /protein_id="NP_058198.2"
                     /db_xref="CCDS:CCDS42938.1"
                     /db_xref="GeneID:9619"
                     /db_xref="HGNC:HGNC:73"
                     /db_xref="MIM:603076"
                     /translation="MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEAT
                     ETDLLNGHLKKVDNNLTEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLK
                     GISGKFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKVSC
                     YIMQDDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLS
                     GGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQP
                     SAKLFELFDQLYVLSQGQCVYRGKVCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYG
                     DQNSRLVRAVREGMCDSDHKRDLGGDAEVNPFLWHRPSEEDSSSMEGCHSFSASCLTQ
                     FCILFKRTFLSIMRDSVLTHLRITSHIGIGLLIGLLYLGIGNEAKKVLSNSGFLFFSM
                     LFLMFAALMPTVLTFPLEMGVFLREHLNYWYSLKAYYLAKTMADVPFQIMFPVAYCSI
                     VYWMTSQPSDAVRFVLFAALGTMTSLVAQSLGLLIGAASTSLQVATFVGPVTAIPVLL
                     FSGFFVSFDTIPTYLQWMSYISYVRYGFEGVILSIYGLDREDLHCDIDETCHFQKSEA
                     ILRELDVENAKLYLDFIVLGIFFISLRLIAYFVLRYKIRAER"
     exon            166..409
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            410..527
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            528..660
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..711
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            712..857
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            858..981
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1096
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1245
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1347
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1516
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1617
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1776
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1895
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..2976
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /note="hexamer: AATATA"
     polyA_site      2976
                     /gene="ABCG1"
                     /gene_synonym="ABC8; WHITE1"
                     /note="major polyA site"
ORIGIN      
        1 ggagcccaag cgcagcccgc accccgcgca gcggctgagc cgggagccag cgcagcctcg
       61 gccccgcagc tcaagcctcg tccccgccgc cgccgccgcc gccgccgccg ccgcccccgg
      121 ggcatggcct gtctgatggc cgctttctcg gtcggcaccg ccatgaatgc cagcagttac
      181 tctgcagaga tgacggagcc caagtcggtg tgtgtctcgg tggatgaggt ggtgtccagc
      241 aacatggagg ccactgagac ggacctgctg aatggacatc tgaaaaaagt agataataac
      301 ctcacggaag cccagcgctt ctcctccttg cctcggaggg cagctgtgaa cattgaattc
      361 agggaccttt cctattcggt tcctgaagga ccctggtgga ggaagaaagg atacaagacc
      421 ctcctgaaag gaatttccgg gaagttcaat agtggtgagt tggtggccat tatgggtcct
      481 tccggggccg ggaagtccac gctgatgaac atcctggctg gatacaggga gacgggcatg
      541 aagggggccg tcctcatcaa cggcctgccc cgggacctgc gctgcttccg gaaggtgtcc
      601 tgctacatca tgcaggatga catgctgctg ccgcatctca ctgtgcagga ggccatgatg
      661 gtgtcggcac atctgaagct tcaggagaag gatgaaggca gaagggaaat ggtcaaggag
      721 atactgacag cgctgggctt gctgtcttgc gccaacacgc ggaccgggag cctgtcaggt
      781 ggtcagcgca agcgcctggc catcgcgctg gagctggtga acaaccctcc agtcatgttc
      841 ttcgatgagc ccaccagcgg cctggacagc gcctcctgct tccaggtggt ctcgctgatg
      901 aaagggctcg ctcaaggggg tcgctccatc atttgcacca tccaccagcc cagcgccaaa
      961 ctcttcgagc tgttcgacca gctttacgtc ctgagtcaag gacaatgtgt gtaccgggga
     1021 aaagtctgca atcttgtgcc atatttgagg gatttgggtc tgaactgccc aacctaccac
     1081 aacccagcag attttgtcat ggaggttgca tccggcgagt acggtgatca gaacagtcgg
     1141 ctggtgagag cggttcggga gggcatgtgt gactcagacc acaagagaga cctcgggggt
     1201 gatgccgagg tgaacccttt tctttggcac cggccctctg aagaggactc ctcgtccatg
     1261 gaaggctgcc acagcttctc tgccagctgc ctcacgcagt tctgcatcct cttcaagagg
     1321 accttcctca gcatcatgag ggactcggtc ctgacacacc tgcgcatcac ctcgcacatt
     1381 gggatcggcc tcctcattgg cctgctgtac ttggggatcg ggaacgaagc caagaaggtc
     1441 ttgagcaact ccggcttcct cttcttctcc atgctgttcc tcatgttcgc ggccctcatg
     1501 cctactgttc tgacatttcc cctggagatg ggagtctttc ttcgggaaca cctgaactac
     1561 tggtacagcc tgaaggccta ctacctggcc aagaccatgg cagacgtgcc ctttcagatc
     1621 atgttcccag tggcctactg cagcatcgtg tactggatga cgtcgcagcc gtccgacgcc
     1681 gtgcgctttg tgctgtttgc cgcgctgggc accatgacct ccctggtggc acagtccctg
     1741 ggcctgctga tcggagccgc ctccacgtcc ctgcaggtgg ccactttcgt gggcccagtg
     1801 acagccatcc cggtgctcct gttctcgggg ttcttcgtca gcttcgacac catccccacg
     1861 tacctacagt ggatgtccta catctcctat gtcaggtatg ggttcgaagg ggtcatcctc
     1921 tccatctatg gcttagaccg ggaagatctg cactgtgaca tcgacgagac gtgccacttc
     1981 cagaagtcgg aggccatcct gcgggagctg gacgtggaaa atgccaagct gtacctggac
     2041 ttcatcgtac tcgggatttt cttcatctcc ctccgcctca ttgcctattt tgtcctcagg
     2101 tacaaaatcc gggcagagag gtaaaacacc tgaatgccag gaaacaggaa gattagacac
     2161 tgtggccgag ggcacgtcta gaatcgagga ggcaagcctg tgcccgaccg acgacacaga
     2221 gactcttctg atccaacccc tagaaccgcg ttgggtttgt gggtgtctcg tgctcagcca
     2281 ctctgcccag ctgggttgga tcttctctcc attccccttt ctagctttaa ctaggaagat
     2341 gtaggcagat tggtggtttt ttttttttta acatacagaa ttttaaatac cacaactggg
     2401 gcagaattta aagctgcaac acagctggtg atgagaggct tcctcagtcc agtcgctcct
     2461 tagcaccagg caccgtgggt cctggatggg gaactgcaag cagcctctca gctgatggct
     2521 gcacagtcag atgtctggtg gcagagagtc cgagcatgga gcgattccat tttatgactg
     2581 ttgtttttca cattttcatc tttctaaggt gtgtctcttt tccaatgaga agtcattttt
     2641 gcaagccaaa agtcgatcaa tcgcattcat tttaagaaat tatacctttt tagtacttgc
     2701 tgaagaatga ttcagggtaa atcacatact ttgtttagag aggcgagggg tttaaccgag
     2761 tcacccagct ggtctcatac atagacagca cttgtgaagg attgaatgca ggttccaggt
     2821 ggagggaaga cgtggacacc atctccactg agccatgcag acatttttaa aagctataca
     2881 aaaaattgtg agaagacatt ggccaactct ttcaaagtct ttctttttcc acgtgcttct
     2941 tattttaagc gaaatatatt gtttgtttct tcctaa
//
