LOCUS       NM_003661               2795 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens apolipoprotein L1 (APOL1), transcript variant 1, mRNA.
ACCESSION   NM_003661
VERSION     NM_003661.4
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 2795)
  AUTHORS   Hubacek,J.A., Adamkova,V., Lanska,V., Stanek,V., Mrazkova,J.,
            Gebauerova,M., Kettner,J., Kautzner,J. and Pitha,J.
  TITLE     APOL1 polymorphisms are not influencing acute coronary syndrome
            risk in Czech males
  JOURNAL   Mol Genet Genomic Med 12 (8), e2449 (2024)
   PUBMED   39171649
  REMARK    GeneRIF: APOL1 polymorphisms are not influencing acute coronary
            syndrome risk in Czech males.
REFERENCE   2  (bases 1 to 2795)
  AUTHORS   Juliar,B.A., Stanaway,I.B., Sano,F., Fu,H., Smith,K.D., Akilesh,S.,
            Scales,S.J., El Saghir,J., Bhatraju,P.K., Liu,E., Yang,J., Lin,J.,
            Eddy,S., Kretzler,M., Zheng,Y., Himmelfarb,J., Harder,J.L. and
            Freedman,B.S.
  TITLE     Interferon-gamma induces combined pyroptotic angiopathy and APOL1
            expression in human kidney disease
  JOURNAL   Cell Rep 43 (6), 114310 (2024)
   PUBMED   38838223
  REMARK    GeneRIF: Interferon-gamma induces combined pyroptotic angiopathy
            and APOL1 expression in human kidney disease.
REFERENCE   3  (bases 1 to 2795)
  AUTHORS   Breeze,C.E., Lin,B.M., Winkler,C.A. and Franceschini,N.
  TITLE     African ancestry-derived APOL1 risk genotypes show proximal
            epigenetic associations
  JOURNAL   BMC Genomics 25 (1), 452 (2024)
   PUBMED   38714935
  REMARK    GeneRIF: African ancestry-derived APOL1 risk genotypes show
            proximal epigenetic associations.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2795)
  AUTHORS   Randle,R.K., Amara,V.R. and Popik,W.
  TITLE     IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated APOL1
            Expression in Human Podocytes under Hypoxic Conditions
  JOURNAL   Int J Mol Sci 25 (6), 3324 (2024)
   PUBMED   38542298
  REMARK    GeneRIF: IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated
            APOL1 Expression in Human Podocytes under Hypoxic Conditions.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2795)
  AUTHORS   Adamson,W.E., Noyes,H., Johnson,P., Cooper,A., Monckton,D.G.,
            Ogunsola,J., Beckett-Hill,G., Sullivan,M., Mark,P., Parekh,R.S. and
            MacLeod,A.
  TITLE     Phenome-wide analysis reveals epistatic associations between APOL1
            variants and chronic kidney disease and multiple other disorders
  JOURNAL   EBioMedicine 101, 105000 (2024)
   PUBMED   38360481
  REMARK    GeneRIF: Phenome-wide analysis reveals epistatic associations
            between APOL1 variants and chronic kidney disease and multiple
            other disorders.
REFERENCE   6  (bases 1 to 2795)
  AUTHORS   Page,N.M., Butlin,D.J., Lomthaisong,K. and Lowry,P.J.
  TITLE     The human apolipoprotein L gene cluster: identification,
            classification, and sites of distribution
  JOURNAL   Genomics 74 (1), 71-78 (2001)
   PUBMED   11374903
REFERENCE   7  (bases 1 to 2795)
  AUTHORS   Duchateau,P.N., Pullinger,C.R., Cho,M.H., Eng,C. and Kane,J.P.
  TITLE     Apolipoprotein L gene family: tissue-specific expression, splicing,
            promoter regions; discovery of a new gene
  JOURNAL   J Lipid Res 42 (4), 620-630 (2001)
   PUBMED   11290834
REFERENCE   8  (bases 1 to 2795)
  AUTHORS   Duchateau,P.N., Movsesyan,I., Yamashita,S., Sakai,N., Hirano,K.,
            Schoenhaus,S.A., O'Connor-Kearns,P.M., Spencer,S.J., Jaffe,R.B.,
            Redberg,R.F., Ishida,B.Y., Matsuzawa,Y., Kane,J.P. and Malloy,M.J.
  TITLE     Plasma apolipoprotein L concentrations correlate with plasma
            triglycerides and cholesterol levels in normolipidemic,
            hyperlipidemic, and diabetic subjects
  JOURNAL   J Lipid Res 41 (8), 1231-1236 (2000)
   PUBMED   10946010
REFERENCE   9  (bases 1 to 2795)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (bases 1 to 2795)
  AUTHORS   Duchateau,P.N., Pullinger,C.R., Orellana,R.E., Kunitake,S.T.,
            Naya-Vigne,J., O'Connor,P.M., Malloy,M.J. and Kane,J.P.
  TITLE     Apolipoprotein L, a new human high density lipoprotein
            apolipoprotein expressed by the pancreas. Identification, cloning,
            characterization, and plasma distribution of apolipoprotein L
  JOURNAL   J Biol Chem 272 (41), 25576-25582 (1997)
   PUBMED   9325276
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC112943.1, Z82215.1 and
            BC017331.1.
            
            On Jun 3, 2019 this sequence version replaced NM_003661.3.
            
            Summary: This gene encodes a secreted high density lipoprotein
            which binds to apolipoprotein A-I. Apolipoprotein A-I is a
            relatively abundant plasma protein and is the major apoprotein of
            HDL. It is involved in the formation of most cholesteryl esters in
            plasma and also promotes efflux of cholesterol from cells. This
            apolipoprotein L family member may play a role in lipid exchange
            and transport throughout the body, as well as in reverse
            cholesterol transport from peripheral cells to the liver. Several
            different transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) encodes the predominant
            protein (isoform a). Variants 1 and 3 encode the same protein
            (isoform a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            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 :: SRR1803617.40826.1, AF019225.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397278.8/ ENSP00000380448.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-420               BC112943.1         18-437
            421-2484            Z82215.1           33447-35510
            2485-2795           BC017331.1         1688-1998
FEATURES             Location/Qualifiers
     source          1..2795
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..2795
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /note="apolipoprotein L1"
                     /db_xref="GeneID:8542"
                     /db_xref="HGNC:HGNC:618"
                     /db_xref="MIM:603743"
     exon            1..87
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     exon            88..150
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1303
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; apolipoprotein L 1; apolipoprotein L1-B3"
                     /codon_start=1
                     /product="apolipoprotein L1 isoform a precursor"
                     /protein_id="NP_003652.2"
                     /db_xref="CCDS:CCDS13926.1"
                     /db_xref="GeneID:8542"
                     /db_xref="HGNC:HGNC:618"
                     /db_xref="MIM:603743"
                     /translation="MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDT
                     GDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAE
                     LPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRA
                     LADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITA
                     ALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLT
                     RGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVK
                     LTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKIL
                     QADQEL"
     exon            151..204
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     exon            205..293
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     exon            294..420
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     exon            421..2795
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2774..2779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /note="hexamer: AATAAA"
     polyA_site      2795
                     /gene="APOL1"
                     /gene_synonym="APO-L; APOL; APOL-I; FSGS4"
                     /note="major polyA site"
ORIGIN      
        1 attatacaga cgcataactg gaggtgggat ccacacagct cagaacagct ggatcttgct
       61 cagtctctgc caggggaaga ttccttggag gaggccctgc agcgacatgg agggagctgc
      121 tttgctgaga gtctctgtcc tctgcatctg gatgagtgca cttttccttg gtgtgggagt
      181 gagggcagag gaagctggag cgagggtgca acaaaacgtt ccaagtggga cagatactgg
      241 agatcctcaa agtaagcccc tcggtgactg ggctgctggc accatggacc cagagagcag
      301 tatctttatt gaggatgcca ttaagtattt caaggaaaaa gtgagcacac agaatctgct
      361 actcctgctg actgataatg aggcctggaa cggattcgtg gctgctgctg aactgcccag
      421 gaatgaggca gatgagctcc gtaaagctct ggacaacctt gcaagacaaa tgatcatgaa
      481 agacaaaaac tggcacgata aaggccagca gtacagaaac tggtttctga aagagtttcc
      541 tcggttgaaa agtgagcttg aggataacat aagaaggctc cgtgcccttg cagatggggt
      601 tcagaaggtc cacaaaggca ccaccatcgc caatgtggtg tctggctctc tcagcatttc
      661 ctctggcatc ctgaccctcg tcggcatggg tctggcaccc ttcacagagg gaggcagcct
      721 tgtactcttg gaacctggga tggagttggg aatcacagcc gctttgaccg ggattaccag
      781 cagtaccatg gactacggaa agaagtggtg gacacaagcc caagcccacg acctggtcat
      841 caaaagcctt gacaaattga aggaggtgag ggagtttttg ggtgagaaca tatccaactt
      901 tctttcctta gctggcaata cttaccaact cacacgaggc attgggaagg acatccgtgc
      961 cctcagacga gccagagcca atcttcagtc agtaccgcat gcctcagcct cacgcccccg
     1021 ggtcactgag ccaatctcag ctgaaagcgg tgaacaggtg gagagggtta atgaacccag
     1081 catcctggaa atgagcagag gagtcaagct cacggatgtg gcccctgtaa gcttctttct
     1141 tgtgctggat gtagtctacc tcgtgtacga atcaaagcac ttacatgagg gggcaaagtc
     1201 agagacagct gaggagctga agaaggtggc tcaggagctg gaggagaagc taaacattct
     1261 caacaataat tataagattc tgcaggcgga ccaagaactg tgaccacagg gcagggcagc
     1321 caccaggaga gatatgcctg gcaggggcca ggacaaaatg caaacttttt tttttttctg
     1381 agacagagtc ttgctctgtc gccaagttgg agtgcaatgg tgcgatctca gctcactgca
     1441 agctctgcct cccgtgttca agcgattctc ctgccttggc ctcccaagta gctgggacta
     1501 caggcgccta ccaccatgcc cagctaattt ttgtattttt aatagagatg gggtttcacc
     1561 atgttggcca ggatggtctc gatctcctga cctcttgatc tgcccacctt ggcctcccaa
     1621 agtgctggga ttacaggcgt gagccatcgc ttttgaccca aatgcaaaca ttttattagg
     1681 gggataaaga gggtgaggta aagtttatgg aactgagtgt tagggacttt ggcatttcca
     1741 tagctgagca cagcagggga ggggttaatg cagatggcag tgcagcaagg agaaggcagg
     1801 aacattggag cctgcaataa gggaaaaatg ggaactggag agtgtgggga atgggaagaa
     1861 gcagtttact ttagactaaa gaatatattg gggggccggg tgtagtggct catgcctgta
     1921 atccgagcac tttgggaggc caaggcgggc ggatcacgag gtcaggagat cgagaccatc
     1981 ctggctaaca cagtgaaacc ccgtctctac taaaaataca aaaaattagc cgggcatggt
     2041 ggcgggcgcc tgtagttcca gctaactggg cggctgaggc aggagaatgg cgtgaacctg
     2101 ggaggtggag cttgcagtga gccgagatat cgccactgca ctccagcctg ggtgacagag
     2161 cgagactcca tctcaaaaaa aaaaaaaaaa agaatatatt gacggaagaa tagagaggag
     2221 gcttgaagga accagcaatg agaaggccag gaaaagaaag agctgaaaat ggagaaagcc
     2281 caagagttag aacagttgga tacaggagaa gaaacagcgg ctccactaca gacccagccc
     2341 caggttcaat gtcctccgaa gaatgaagtc tttccctggt gatggtcccc tgccctgtct
     2401 ttccagcatc cactctccct tgtcctcctg ggggcatatc tcagtcaggc agcggcttcc
     2461 tgatgatggt cattggggtg gttgtcatgt gatgggtccc ctccaggtta ctaaagggtg
     2521 catgtcccct gcttgaacac tgaagggcag gtggtgggcc atggccatgg tccccagctg
     2581 aggagcaggt gtccctgaga acccaaactt cccagagagt atgtgagaac caaccaatga
     2641 aaacagtccc atcgctctta cccggtaagt aaacagtcag aaaattagca tgaaagcagt
     2701 ttagcattgg gaggaagctc agatctctag agctgtcttg tcgccgccca ggattgacct
     2761 gtgtgtaagt cccaataaac tcacctactc atcaa
//
