LOCUS       NM_022436               2760 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily G member 5 (ABCG5),
            mRNA.
ACCESSION   NM_022436
VERSION     NM_022436.3
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 2760)
  AUTHORS   Zhang,L., Zhang,S., Zou,W., Hu,Y., Gao,Y., Zhang,J. and Zheng,J.
  TITLE     Maternal high-fat diet regulates offspring hepatic ABCG5 expression
            and cholesterol metabolism via the gut microbiota and its derived
            butyrate
  JOURNAL   Clin Sci (Lond) 138 (17), 1039-1054 (2024)
   PUBMED   39136693
  REMARK    GeneRIF: Maternal high-fat diet regulates offspring hepatic ABCG5
            expression and cholesterol metabolism via the gut microbiota and
            its derived butyrate.
REFERENCE   2  (bases 1 to 2760)
  AUTHORS   Khabou,B., Kallabi,F., Abdelaziz,R.B., Maaloul,I., Aloulou,H.,
            Chehida,A.B., Kammoun,T., Barbu,V., Boudawara,T.S., Fakhfakh,F.,
            Khemakhem,B. and Sahnoun,O.S.
  TITLE     Molecular and computational characterization of ABCB11 and ABCG5
            variants in Tunisian patients with neonatal/infantile low-GGT
            intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype
            correlation assessment
  JOURNAL   Ann Hum Genet 88 (3), 194-211 (2024)
   PUBMED   38108658
  REMARK    GeneRIF: Molecular and computational characterization of ABCB11 and
            ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT
            intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype
            correlation assessment.
REFERENCE   3  (bases 1 to 2760)
  AUTHORS   Mi,J., Jiang,Q., Qi,Z., Liu,Z., Bai,X., Zheng,X., Wu,J., Fang,Y.,
            Yang,A. and Chen,H.
  TITLE     Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of
            cholelithiasis and cholecystitis: evidence from Mendelian
            randomization and colocalization analyses
  JOURNAL   Hum Genomics 18 (1), 19 (2024)
   PUBMED   38347599
  REMARK    GeneRIF: Plasma campesterol and ABCG5/ABCG8 gene loci on the risk
            of cholelithiasis and cholecystitis: evidence from Mendelian
            randomization and colocalization analyses.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2760)
  AUTHORS   Tada,H., Okada,H., Nomura,A., Takamura,M. and Kawashiri,M.A.
  TITLE     Children with Severe Hypercholesterolemia Caused by a Pathogenic
            Mutation in ABCG5
  JOURNAL   Intern Med 62 (2), 251-259 (2023)
   PUBMED   35705271
  REMARK    GeneRIF: Children with Severe Hypercholesterolemia Caused by a
            Pathogenic Mutation in ABCG5.
REFERENCE   5  (bases 1 to 2760)
  AUTHORS   Farhat,D., Rezaei,F., Ristovski,M., Yang,Y., Stancescu,A.,
            Dzimkova,L., Samnani,S., Couture,J.F. and Lee,J.Y.
  TITLE     Structural Analysis of Cholesterol Binding and Sterol Selectivity
            by ABCG5/G8
  JOURNAL   J Mol Biol 434 (20), 167795 (2022)
   PUBMED   35988751
  REMARK    GeneRIF: Structural Analysis of Cholesterol Binding and Sterol
            Selectivity by ABCG5/G8.
REFERENCE   6  (bases 1 to 2760)
  AUTHORS   Lee,M.H., Lu,K., Hazard,S., Yu,H., Shulenin,S., Hidaka,H.,
            Kojima,H., Allikmets,R., Sakuma,N., Pegoraro,R., Srivastava,A.K.,
            Salen,G., Dean,M. and Patel,S.B.
  TITLE     Identification of a gene, ABCG5, important in the regulation of
            dietary cholesterol absorption
  JOURNAL   Nat Genet 27 (1), 79-83 (2001)
   PUBMED   11138003
REFERENCE   7  (bases 1 to 2760)
  AUTHORS   Shulenin,S., Schriml,L.M., Remaley,A.T., Fojo,S., Brewer,B.,
            Allikmets,R. and Dean,M.
  TITLE     An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene
            subfamily maps to human chromosome 2p21 in the region of the
            Sitosterolemia locus
  JOURNAL   Cytogenet Cell Genet 92 (3-4), 204-208 (2001)
   PUBMED   11435688
REFERENCE   8  (bases 1 to 2760)
  AUTHORS   Berge,K.E., Tian,H., Graf,G.A., Yu,L., Grishin,N.V., Schultz,J.,
            Kwiterovich,P., Shan,B., Barnes,R. and Hobbs,H.H.
  TITLE     Accumulation of dietary cholesterol in sitosterolemia caused by
            mutations in adjacent ABC transporters
  JOURNAL   Science 290 (5497), 1771-1775 (2000)
   PUBMED   11099417
REFERENCE   9  (bases 1 to 2760)
  AUTHORS   Patel,S.B., Salen,G., Hidaka,H., Kwiterovich,P.O., Stalenhoef,A.F.,
            Miettinen,T.A., Grundy,S.M., Lee,M.H., Rubenstein,J.S.,
            Polymeropoulos,M.H. and Brownstein,M.J.
  TITLE     Mapping a gene involved in regulating dietary cholesterol
            absorption. The sitosterolemia locus is found at chromosome 2p21
  JOURNAL   J Clin Invest 102 (5), 1041-1044 (1998)
   PUBMED   9727073
REFERENCE   10 (bases 1 to 2760)
  AUTHORS   Myrie,S.B., Steiner,R.D. and Mymin,D.
  TITLE     Sitosterolemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23556150
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Karyn Megy. The reference sequence was derived
            from AC108476.5 and AF312715.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_022436.2.
            
            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. The protein encoded by
            this gene functions as a half-transporter to limit intestinal
            absorption and promote biliary excretion of sterols. It is
            expressed in a tissue-specific manner in the liver, colon, and
            intestine. This gene is tandemly arrayed on chromosome 2, in a
            head-to-head orientation with family member ABCG8. Mutations in
            this gene may contribute to sterol accumulation and
            atheroschlerosis, and have been observed in patients with
            sitosterolemia. [provided by RefSeq, Jul 2008].
            
            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 :: AF312715.2, AF320293.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000405322.8/ ENSP00000384513.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC108476.5         19006-19025         c
            21-2760             AF312715.2         1-2740
FEATURES             Location/Qualifiers
     source          1..2760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2760
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /note="ATP binding cassette subfamily G member 5"
                     /db_xref="GeneID:64240"
                     /db_xref="HGNC:HGNC:13886"
                     /db_xref="MIM:605459"
     exon            1..303
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             161..2116
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /note="sterolin 1; ATP-binding cassette, sub-family G
                     (WHITE), member 5"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family G member 5"
                     /protein_id="NP_071881.1"
                     /db_xref="CCDS:CCDS1814.1"
                     /db_xref="GeneID:64240"
                     /db_xref="HGNC:HGNC:13886"
                     /db_xref="MIM:605459"
                     /translation="MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHAS
                     YSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGR
                     LGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
                     PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDE
                     PTTGLDCMTANQIVVLLVELARRNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGT
                     PAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAI
                     CHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQ
                     NLIMGLFLLFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLRAVSD
                     QESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLA
                     PHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFT
                     FQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNF
                     LILYSFIPALVILGIVVFKIRDHLISR"
     exon            304..425
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            426..562
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            563..661
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            662..794
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            795..934
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1064
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1278
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1484
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1623
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1809
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1810..1922
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2760
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2372..2377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /note="hexamer: AATAAT"
     polyA_site      2390
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /note="major polyA site"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
                     /note="hexamer: AATAAA"
     polyA_site      2516
                     /gene="ABCG5"
                     /gene_synonym="STSL; STSL2"
ORIGIN      
        1 agataatggt ctccgtggcc aagtcccagt cctgctgtcc caagggactc cggggtcagg
       61 tggagcaggc agggcagtct gccacgggct ccccaactga agccactctg gggagggtcc
      121 ggccaccaga aaatttgccc agctttgctg cctgttggcc atgggtgacc tctcatcttt
      181 gacccccgga gggtccatgg gtctccaagt aaacagaggc tcccagagct ccctggaggg
      241 ggctcctgcc accgccccgg agcctcacag cctgggcatc ctccatgcct cctacagcgt
      301 cagccaccgc gtgaggccct ggtgggacat cacatcttgc cggcagcagt ggaccaggca
      361 gatcctcaaa gatgtctcct tgtacgtgga gagcgggcag atcatgtgca tcctaggaag
      421 ctcaggctcc gggaaaacca cgctgctgga cgccatgtcc gggaggctgg ggcgcgcggg
      481 gaccttcctg ggggaggtgt atgtgaacgg ccgggcgctg cgccgggagc agttccagga
      541 ctgcttctcc tacgtcctgc agagcgacac cctgctgagc agcctcaccg tgcgcgagac
      601 gctgcactac accgcgctgc tggccatccg ccgcggcaat cccggctcct tccagaagaa
      661 ggtggaggcc gtcatggcag agctgagtct gagccatgtg gcagaccgac tgattggcaa
      721 ctacagcttg gggggcattt ccacgggtga gcggcgccgg gtctccatcg cagcccagct
      781 gctccaggat cctaaggtca tgctgtttga tgagccaacc acaggcctgg actgcatgac
      841 tgctaatcag attgtcgtcc tcctggtgga actggctcgc aggaaccgaa ttgtggttct
      901 caccattcac cagccccgtt ctgagctttt tcagctcttt gacaaaattg ccatcctgag
      961 cttcggagag ctgattttct gtggcacgcc agcggaaatg cttgatttct tcaatgactg
     1021 cggttaccct tgtcctgaac attcaaaccc ttttgacttc tatatggacc tgacgtcagt
     1081 ggatacccaa agcaaggaac gggaaataga aacctccaag agagtccaga tgatagaatc
     1141 tgcctacaag aaatcagcaa tttgtcataa aactttgaag aatattgaaa gaatgaaaca
     1201 cctgaaaacg ttaccaatgg ttcctttcaa aaccaaagat tctcctggag ttttctctaa
     1261 actgggtgtt ctcctgagga gagtgacaag aaacttggtg agaaataagc tggcagtgat
     1321 tacgcgtctc cttcagaatc tgatcatggg tttgttcctc cttttcttcg ttctgcgggt
     1381 ccgaagcaat gtgctaaagg gtgctatcca ggaccgcgta ggtctccttt accagtttgt
     1441 gggcgccacc ccgtacacag gcatgctgaa cgctgtgaat ctgtttcccg tgctgcgagc
     1501 tgtcagcgac caggagagtc aggacggcct ctaccagaag tggcagatga tgctggccta
     1561 tgcactgcac gtcctcccct tcagcgttgt tgccaccatg attttcagca gtgtgtgcta
     1621 ctggacgctg ggcttacatc ctgaggttgc ccgatttgga tatttttctg ctgctctctt
     1681 ggccccccac ttaattggtg aatttctaac tcttgtgcta cttggtatcg tccaaaatcc
     1741 aaatatagtc aacagtgtag tggctctgct gtccattgcg ggggtgcttg ttggatctgg
     1801 attcctcaga aacatacaag aaatgcccat tccttttaaa atcatcagtt attttacatt
     1861 ccaaaaatat tgcagtgaga ttcttgtagt caatgagttc tacggactga atttcacttg
     1921 tggcagctca aatgtttctg tgacaactaa tccaatgtgt gccttcactc aaggaattca
     1981 attcattgag aaaacctgcc caggtgcaac atctagattc acaatgaact ttctgatttt
     2041 gtattcattt attccagctc ttgtcatcct aggaatagtt gttttcaaaa taagggatca
     2101 tctcattagc aggtagtgaa agccatggct gggaaaatgg aagtgaagct gccgactgtg
     2161 catgactgct ctgaacgtct gaaatgagag tgccatgtat ttctttcttg acaggacatc
     2221 tcaagtcttt taaccattaa gactccattt gtgcctcttg gatccaagca ggccttgaat
     2281 gcaatggaag tggtttatag tcccttgctc ttacaacttg cagggacatg tggttatttg
     2341 gaaattgtga ctgagcggac ccaagaatgt aaataatatt cataaaccta tgggagactc
     2401 gtgtgactat tttttttcct tgttctaggc acagaaaaaa ataggtcagc ttaaaaatat
     2461 gtttacattg gataaaggat taggcaaaaa taaaatgttt caaggattcc tgaccataag
     2521 tgacagagaa agagagttgt gggtttagat gaagcaaggt tatcatgcag aattgggtaa
     2581 gaatgcttct gttcctggaa gacccagagt taaatgcaga tgtccacacg aggggtcgga
     2641 gttacctgat cacatcgaga gagtgctggg cagatggatg gtgagcacca ctgctacaga
     2701 gcacccagtg attttactga ggattaaaat aaaaaaccgt aggaatgggc tcaacagtga
//
