LOCUS       NM_000780               2877 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens cytochrome P450 family 7 subfamily A member 1
            (CYP7A1), mRNA.
ACCESSION   NM_000780
VERSION     NM_000780.4
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 2877)
  AUTHORS   Niu,C., Xie,X., Liu,R., Liang,X., Hu,Y. and Lai,Y.
  TITLE     CYP7A1 Gene Induction via SHP-Dependent or Independent Mechanisms
            can Increase the Risk of Drug-Induced Liver Injury Independently or
            in Synergy with BSEP Inhibition
  JOURNAL   Drug Metab Dispos 52 (5), 432-441 (2024)
   PUBMED   38485279
  REMARK    GeneRIF: CYP7A1 Gene Induction via SHP-Dependent or Independent
            Mechanisms can Increase the Risk of Drug-Induced Liver Injury
            Independently or in Synergy with BSEP Inhibition.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2877)
  AUTHORS   Yu Cai Lim,M. and Kiat Ho,H.
  TITLE     Pharmacological modulation of cholesterol 7alpha-hydroxylase
            (CYP7A1) as a therapeutic strategy for hypercholesterolemia
  JOURNAL   Biochem Pharmacol 220, 115985 (2024)
   PUBMED   38154545
  REMARK    GeneRIF: Pharmacological modulation of cholesterol
            7alpha-hydroxylase (CYP7A1) as a therapeutic strategy for
            hypercholesterolemia.
            Review article
REFERENCE   3  (bases 1 to 2877)
  AUTHORS   Liu,S.X., Bai,H., Guan,L.B., Liu,X.H., Fan,P., Zhou,M., Wu,Y.J.,
            Tang,F.M., Wang,Y.F. and Li,D.H.
  TITLE     [Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism in Normal
            and Gestational Diabetic Pregnancies]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 54 (2), 361-366 (2023)
   PUBMED   36949699
  REMARK    GeneRIF: [Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism
            in Normal and Gestational Diabetic Pregnancies].
REFERENCE   4  (bases 1 to 2877)
  AUTHORS   Balesaria,S., Pattni,S.S., Johnston,I.M., Nolan,J.D., Appleby,R.N.
            and Walters,J.R.F.
  TITLE     Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1
            Are Associated With Severe Primary Bile Acid Diarrhea
  JOURNAL   Gastroenterology 163 (2), 517-519 (2022)
   PUBMED   35526572
  REMARK    GeneRIF: Common Genetic Variants in the Bile Acid Synthesis Enzyme
            CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea.
REFERENCE   5  (bases 1 to 2877)
  AUTHORS   Abed,E., Jarrar,Y., Alhawari,H., Abdullah,S. and Zihlif,M.
  TITLE     The association of cytochrome 7A1 and ATP-binding cassette G8
            genotypes with type 2 diabetes among Jordanian patients
  JOURNAL   Drug Metab Pers Ther 37 (2), 149-154 (2021)
   PUBMED   34845882
  REMARK    GeneRIF: The association of cytochrome 7A1 and ATP-binding cassette
            G8 genotypes with type 2 diabetes among Jordanian patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2877)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2877)
  AUTHORS   Cohen,J.C., Cali,J.J., Jelinek,D.F., Mehrabian,M., Sparkes,R.S.,
            Lusis,A.J., Russell,D.W. and Hobbs,H.H.
  TITLE     Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7)
            and localization to chromosome 8q11-q12
  JOURNAL   Genomics 14 (1), 153-161 (1992)
   PUBMED   1358792
REFERENCE   8  (bases 1 to 2877)
  AUTHORS   Karam,W.G. and Chiang,J.Y.
  TITLE     Polymorphisms of human cholesterol 7 alpha-hydroxylase
  JOURNAL   Biochem Biophys Res Commun 185 (2), 588-595 (1992)
   PUBMED   1610352
REFERENCE   9  (bases 1 to 2877)
  AUTHORS   Molowa,D.T., Chen,W.S., Cimis,G.M. and Tan,C.P.
  TITLE     Transcriptional regulation of the human cholesterol 7
            alpha-hydroxylase gene
  JOURNAL   Biochemistry 31 (9), 2539-2544 (1992)
   PUBMED   1312351
REFERENCE   10 (bases 1 to 2877)
  AUTHORS   Noshiro,M. and Okuda,K.
  TITLE     Molecular cloning and sequence analysis of cDNA encoding human
            cholesterol 7 alpha-hydroxylase
  JOURNAL   FEBS Lett 268 (1), 137-140 (1990)
   PUBMED   2384150
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009927.10 and BC101777.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000780.3.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum membrane protein catalyzes the first
            reaction in the cholesterol catabolic pathway in the liver, which
            converts cholesterol to bile acids. This reaction is the rate
            limiting step and the major site of regulation of bile acid
            synthesis, which is the primary mechanism for the removal of
            cholesterol from the body. Polymorphisms in the promoter of this
            gene are associated with defects in bile acid synthesis. [provided
            by RefSeq, Feb 2010].
            
            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 :: M93133.1, X56088.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301645.4/ ENSP00000301645.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC009927.10        122542-122543       c
            3-1656              BC101777.1         1-1654
            1657-2877           AC009927.10        112558-113778       c
FEATURES             Location/Qualifiers
     source          1..2877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..2877
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="cytochrome P450 family 7 subfamily A member 1"
                     /db_xref="GeneID:1581"
                     /db_xref="HGNC:HGNC:2651"
                     /db_xref="MIM:118455"
     exon            1..145
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1580
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /EC_number="1.14.14.23"
                     /EC_number="1.14.14.26"
                     /note="cholesterol 7-alpha-hydroxylase; cholesterol
                     7-alpha-monooxygenase; cytochrome P450, subfamily VIIA
                     polypeptide 1; cholesterol 7alpha-hydroxylase; cytochrome
                     P450, family 7, subfamily A, polypeptide 1;
                     24-hydroxycholesterol 7-alpha-hydroxylase"
                     /codon_start=1
                     /product="cytochrome P450 7A1"
                     /protein_id="NP_000771.2"
                     /db_xref="CCDS:CCDS6171.1"
                     /db_xref="GeneID:1581"
                     /db_xref="HGNC:HGNC:2651"
                     /db_xref="MIM:118455"
                     /translation="MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGC
                     ALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHF
                     ATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSN
                     SKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPA
                     LVAGLPIHMFRTAHNAREKLAESLRHENLQKRESISELISLRMFLNDTLSTFDDLEKA
                     KTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLENAGQKVSLEGNPIC
                     LSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQ
                     LMHLDPEIYPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFA
                     IHEIKQFLILMLSYFELELIEGQAKCPPLDQSRAGLGILPPLNDIEFKYKFKHL"
     exon            146..386
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     exon            387..973
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1104
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1280
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..2877
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2860..2865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="hexamer: AATAAA"
     polyA_site      2877
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="major polyA site"
ORIGIN      
        1 agtggcatcc ttccctttct aatcagagat tttcttcctc agagattttg gcctagattt
       61 gcaaaatgat gaccacatct ttgatttggg ggattgctat agcagcatgc tgttgtctat
      121 ggcttattct tggaattagg agaaggcaaa cgggtgaacc acctctagag aatggattaa
      181 ttccatacct gggctgtgct ctgcaatttg gtgccaatcc tcttgagttc ctcagagcaa
      241 atcaaaggaa acatggtcat gtttttacct gcaaactaat gggaaaatat gtccatttca
      301 tcacaaatcc cttgtcatac cataaggtgt tgtgccacgg aaaatatttt gattggaaaa
      361 aatttcactt tgctacttct gcgaaggcat ttgggcacag aagcattgac ccgatggatg
      421 gaaataccac tgaaaacata aacgacactt tcatcaaaac cctgcagggc catgccttga
      481 attccctcac ggaaagcatg atggaaaacc tccaacgtat catgagacct ccagtctcct
      541 ctaactcaaa gaccgctgcc tgggtgacag aagggatgta ttctttctgc taccgagtga
      601 tgtttgaagc tgggtattta actatctttg gcagagatct tacaaggcgg gacacacaga
      661 aagcacatat tctaaacaat cttgacaact tcaagcaatt cgacaaagtc tttccagccc
      721 tggtagcagg cctccccatt cacatgttca ggactgcgca caatgcccgg gagaaactgg
      781 cagagagctt gaggcacgag aacctccaaa agagggaaag catctcagaa ctgatcagcc
      841 tgcgcatgtt tctcaatgac actttgtcca cctttgatga tctggagaag gccaagacac
      901 acctcgtggt cctctgggca tcgcaagcaa acaccattcc agcgactttc tggagtttat
      961 ttcaaatgat taggaaccca gaagcaatga aagcagctac tgaagaagtg aaaagaacat
     1021 tagagaatgc tggtcaaaaa gtcagcttgg aaggcaatcc tatttgtttg agtcaagcag
     1081 aactgaatga cctgccagta ttagatagta taatcaagga atcgctgagg ctttccagtg
     1141 cctccctcaa catccggaca gctaaggagg atttcacttt gcaccttgag gacggttcct
     1201 acaacatccg aaaagatgac atcatagctc tttacccaca gttaatgcac ttagatccag
     1261 aaatctaccc agaccctttg acttttaaat atgataggta tcttgatgaa aacgggaaga
     1321 caaagactac cttctattgt aatggactca agttaaagta ttactacatg ccctttggat
     1381 cgggagctac aatatgtcct ggaagattgt tcgctatcca cgaaatcaag caatttttga
     1441 ttctgatgct ttcttatttt gaattggagc ttatagaggg ccaagctaaa tgtccacctt
     1501 tggaccagtc ccgggcaggc ttgggcattt tgccgccatt gaatgatatt gaatttaaat
     1561 ataaattcaa gcatttgtga atacatggct ggaataagag gacactagat gatattacag
     1621 gactgcagaa caccctcacc acacagtccc tttggacaaa tgcatttagt ggtggtagaa
     1681 atgattcacc aggtccaatg ttgttcacca gtgcttgctt gtgaatctta acattttggt
     1741 gacagtttcc agatgctatc acagactctg ctagtgaaaa gaactagttt ctaggagcac
     1801 aataatttgt tttcatttgt ataagtccat gaatgttcat atagccaggg attgaagttt
     1861 attattttca aaggaaaaca cctttatttt attttttttc aaaatgaaga tacacattac
     1921 agccaggtgt ggtagcaggc acctgtagtc ttagctactc gagaggccaa agaaggagga
     1981 tggcttgagc ccaggagttc aagaccagcc tggacagctt agtgagatcc cgtctccgaa
     2041 gaaaagatat gtattctaat tggcagattg ttttttccta aggaaactgc tttattttta
     2101 taaaactgcc tgacaattat gaaaaaatgt tcaaattcac gttctagtga aactgcatta
     2161 tttgttgact agatggtggg gttcttcggg tgtgatcata tatcataaag gatatttcaa
     2221 atgattatga ttagttatgt cttttaataa aaaggaaata tttttcaact tcttctatat
     2281 ccaaaattca gggctttaaa catgattatc ttgatttccc aaaaacacta aaggtggttt
     2341 tattttccct tcatgtttta acttattgtt gctgaaaact ctatgtccgg ctttaactat
     2401 cttctctata tttttatttc attcacatta atgagaagag ttttctcaga gattaaaaaa
     2461 ggtagttttt ctgtcattgt taaatacaca ttatcactga aaaaatgtag cttttatgtg
     2521 atatgtttta aagttaaaac tggatggaaa tagccatttg gaagctttgg ttatgaaaca
     2581 tgtggagtgt attaagtgca gcttgacatt atgttttatt taaatgcttt ttatcgctaa
     2641 atgacttgca gatgaaaaaa actaaggtga ctcgagtgtt taaatgctgt gtacaacaat
     2701 gctttgataa aatattttaa gtatgagtta tcagctctat gtcaattgat atttctgtgt
     2761 agtatttata tttaaattat atttaccttt ttgcttattt tacaaatatt aagaaaatat
     2821 tctaacattt gataattttg aaatgattca tctttcagaa ataaaagtat gaatcta
//
