LOCUS       NM_030817               4594 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens apolipoprotein L domain containing 1 (APOLD1),
            transcript variant 2, mRNA.
ACCESSION   NM_030817
VERSION     NM_030817.3
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 4594)
  AUTHORS   Stritt,S., Nurden,P., Nurden,A.T., Schved,J.F., Bordet,J.C.,
            Roux,M., Alessi,M.C., Tregouet,D.A., Makinen,T. and
            Giansily-Blaizot,M.
  TITLE     APOLD1 loss causes endothelial dysfunction involving cell
            junctions, cytoskeletal architecture, and Weibel-Palade bodies,
            while disrupting hemostasis
  JOURNAL   Haematologica 108 (3), 772-784 (2023)
   PUBMED   35638551
  REMARK    GeneRIF: APOLD1 loss causes endothelial dysfunction involving cell
            junctions, cytoskeletal architecture, and Weibel-Palade bodies,
            while disrupting hemostasis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4594)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 4594)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 4594)
  AUTHORS   Regard,J.B., Scheek,S., Borbiev,T., Lanahan,A.A., Schneider,A.,
            Demetriades,A.M., Hiemisch,H., Barnes,C.A., Verin,A.D. and
            Worley,P.F.
  TITLE     Verge: a novel vascular early response gene
  JOURNAL   J Neurosci 24 (16), 4092-4103 (2004)
   PUBMED   15102925
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC126433.1, AC007215.49 and AK024963.1.
            
            On Jun 2, 2019 this sequence version replaced NM_030817.2.
            
            Summary: APOLD1 is an endothelial cell early response protein that
            may play a role in regulation of endothelial cell signaling and
            vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied
            by OMIM, Dec 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, compared to variant 1. The resulting isoform (2)
            contains a distinct N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.231442.1,
                                           SRR1803617.42623.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356591.5/ ENSP00000348998.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1023              BC126433.1         53-1075
            1024-3869           AC007215.49        57105-59950         c
            3870-4594           AK024963.1         2808-3532
FEATURES             Location/Qualifiers
     source          1..4594
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.1"
     gene            1..4594
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /note="apolipoprotein L domain containing 1"
                     /db_xref="GeneID:81575"
                     /db_xref="HGNC:HGNC:25268"
                     /db_xref="MIM:612456"
     exon            1..36
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..780
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /note="isoform 2 is encoded by transcript variant 2;
                     apolipoprotein L domain-containing protein 1; vascular
                     early response gene protein"
                     /codon_start=1
                     /product="apolipoprotein L domain-containing protein 1
                     isoform 2"
                     /protein_id="NP_110444.3"
                     /db_xref="CCDS:CCDS8654.1"
                     /db_xref="GeneID:81575"
                     /db_xref="HGNC:HGNC:25268"
                     /db_xref="MIM:612456"
                     /translation="MGMERPAAREPHGPDALRRFQGLLLDRRGRLHGQVLRLREVARR
                     LERLRRRSLVANVAGSSLSATGALAAIVGLSLSPVTLGTSLLVSAVGLGVATAGGAVT
                     ITSDLSLIFCNSRELRRVQEIAATCQDQMREILSCLEFFCRWQGCGDRQLLQCGRNAS
                     IALYNSVYFIVFFGSRGFLIPRRAEGDTKVSQAVLKAKIQKLAESLESCTGALDELSE
                     QLESRVQLCTKSSRGHDLKISADQRAGLFF"
     exon            37..4594
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4193..4198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /note="hexamer: AATAAA"
     polyA_site      4219
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
     regulatory      4573..4578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /note="hexamer: AATAAA"
     polyA_site      4594
                     /gene="APOLD1"
                     /gene_synonym="BDVAS; VERGE"
                     /note="major polyA site"
ORIGIN      
        1 agattttact ttcctggagg cagacagaag tgaatgggaa tggagaggcc ggcggcccgg
       61 gagccgcatg ggcccgacgc gctgcggcgc ttccagggac tgctgctgga ccgccgaggc
      121 cggctgcacg gccaggtgct gcgcctgcgc gaggtggccc ggcgcctgga gcgcctgcgc
      181 aggcgctccc tcgtagccaa cgtggccggc agctcgctga gcgcaacggg cgccctcgcc
      241 gccatcgtgg ggctctcgct cagcccggtc accctgggga cctcgctgct ggtgtcggcc
      301 gtggggctgg gggtggccac agccggaggg gccgtcacca tcacgtccga tctctcgctg
      361 atcttctgca actcccggga gctgcggagg gtgcaggaga tcgcggccac ctgccaggac
      421 cagatgcgag agatcctgag ctgcctcgag tttttctgcc gctggcaggg ctgcggggac
      481 cgccagctgc tgcagtgcgg gaggaacgcc tccatcgccc tgtacaattc tgtctacttc
      541 atcgtcttct ttggctcacg tggcttcctc atccccaggc gggcggaggg ggacaccaag
      601 gttagccagg ccgtgctgaa ggccaagatt cagaaactgg ccgagagcct ggagtcctgc
      661 accggggctc tggacgaact cagcgagcag ctggagtctc gggttcagct ctgcaccaag
      721 tccagtcgtg gccacgacct caagatctct gctgaccagc gtgcagggct gtttttctga
      781 gaacatcctt tccccctaat gaccgaggcc agcaaatcat cctcatggga tgctccagaa
      841 tttgtagctc ccttaggaaa acaccaagct gggttaggag ccgaaggcaa aggatgagaa
      901 aaactgtttt tgaagtgggc aggtccccaa agcccttctt ttcccatcac tgtgacatct
      961 gcctgggctt gagtgctacg gacttttcag tcttcctagt ggaaaaatgt gacccaaaaa
     1021 ctctttttcc tttatcaaaa actttctgtc taaacacagc tgggcaggca ctcctgtttt
     1081 aaagttattt cggggtccct gaccctgccc tggtggcttg gcctgagact ggagagagtg
     1141 ccatcctctg ggtcctctcc aagtcctact agtctttgaa gtcctcaaaa tgtgcgtgag
     1201 gaaggcgttt gcctctattc cagaatttct gatacaaaga actccagaat ccagagcaaa
     1261 tcagcccttc tctgaacgtt gtaggatggt tcagaaccca gagaggaccc tggtgctgat
     1321 atctcctcct cttccctttc ccctcagctt acttactccc agatgcggcc tgggtatgaa
     1381 gtaggccttt cctgagtggc tcccaatcca gtcctccaag tactcagagg ggaagcccgt
     1441 gaagccgtca tctaagtcct gctccctcac atgaagctga gggccagata gatggagcga
     1501 ctgccaactt catttcccga catcattgtg ttcagaagag agtgatgggt tttgagttag
     1561 acagtcctgg gcttgagaca ggctttgtca ctactgtgtg agtgtagcca cctaatctct
     1621 ctgagactgt gtaaaacaaa gatgataaaa tctcaccctg ttgtgagata ttaaatgagc
     1681 caaagtgcct agcatgatgg tgctggctca tatagtgtag tccctggaat ggcaaattaa
     1741 catcacccag gaacttgtta gaaaggcaaa ttcttggaca caaccctcct gatttatgga
     1801 atcagaaact ctggctgtgg ggcccagcaa cctgagttta aacaatttct ctgggtggtt
     1861 ctgcggcaca ctaaggtttg aaaatcactg caacaaatgc taacttctaa tccccttgat
     1921 gagctttcac gaagtctcac ggcttctcta gggactccat ggtcttcaga gtcgttcaca
     1981 gatgaccaag gacagactgt gtcccagaag ccaaaatgag agagagagag agagagcacg
     2041 cgtacgtgca ccctggggca gtgtctcacc gtatgaacaa gggatgtaac actaaaagcc
     2101 cattaggggg cagtgtttcc cgcctgttgt agaaactggt acagaaagga atatgaagtt
     2161 cctgaaactg acctttgtct attattacct tctctgaaaa gtgccagtcc atgtattttt
     2221 tatttatttt aagtttgtaa tttaattttt aattattgtt tagtgtttgc atttaatttt
     2281 atttaatcac cacatttaga aaataataag agcaagtttc taaatgggag actgctgagg
     2341 ctctttgcaa gagatgagat taagtttgag tttctaaggc agggcatgag ctggaaatag
     2401 cattgctttc cttgattgtc tctctccttc agggagattc tttttctcta gtgttttaag
     2461 tgatcctttg aagtaagtgt ggagagtctt gaatggcaag accaggagct gagtttaagc
     2521 ttgtaatgga agcttgcatt gtgggatata taactgagga agcatattta tcctgaaggt
     2581 attttgccag aaggtatcac ttgacctgga aaaggaatct atttagttca ggaaagataa
     2641 aaagtttaga ggtatgtgaa ggaagcactt agaacttgca agcctgatgt cctatcaagt
     2701 tatgtcttct gggtgacaga caaaatcgct tgtcttatgg tggtgatgtg ttgcattttc
     2761 actttggggt ctgtaagaaa ctgtcagtga aaatatgtac aattccttca atttccattc
     2821 ttaacaactg taatgttgaa aaataagttg aaaagtcttt gggaccatac atgcaaaaac
     2881 ggtgcctctg ttacttaatt atttaatatt ctataaatgt acccaatctg tccgcaccct
     2941 tcccagtgat ggggcagtat gtctgaggaa gtataatttc agtactgggg tcggggagag
     3001 gaggtgatgt ttctacattt ttattttttc tataaattgc aattggtctg tatgctggtt
     3061 tattttgaaa tttatattgg tttcttttca agctggtgtc atctcctaga ctgtttcacc
     3121 cagatgctag catttttttt ttttttttga gacagagtct cactctgtca cctaggctgg
     3181 agttgcagtg gtttgatctc ggctcactgc aacctccgac tcctgggttc aagcaattct
     3241 tctgcctcag cctcctgagt agctgggatt acagatgtgc accagcacac ccggctaatt
     3301 ttttgtattt ttagtagaga cagggtttcg ccatgttggc caggctggtc ttgaactcct
     3361 ggccttatgt gatccgccca ccttggcttc ccaaagtgct gggattacag gcatgagcca
     3421 cctcgcctgg ccagatgcta gcattttaga tcaaacaatt cattttagat gaattgtttt
     3481 gtttcacaat cattttaaat cattttagaa tgtacttcac attattagtt gtgttatggc
     3541 ataaaggtac aaccattccc taactccatc ttttattaat gcttaagttt aaattatatt
     3601 cttccaatgc ctaagctatt ccctagaatt aaactgggca cttttggaag cagcaacagt
     3661 aacagcagca gcaaactttt cctctcatat tttgggtgta tcaaaagttc tagacttttg
     3721 aagttatgat ttcagtggcc cactttattt ctaaggaaga gtgtctactt tggaacgata
     3781 ctttgcacat agtaggaact caagaaatac atttgaataa ttataattaa ctgtttagct
     3841 atcttaatga gaatttgttg acaacaaaag atcatccatc gccttatgtg tgagtaagat
     3901 tggagcctct atcaagattt agtcaagttc agttagattg attctagaaa caaatattta
     3961 tttctttctt ttacggggat gtgaataagg cttttcctta aggccttcat tctttaaaca
     4021 aacaggttga aatggtatgt tgtaaaagag aagacgggag agaggtattt agatgataag
     4081 tgtacttcac aaaaatgcca aagtttgaaa aataggtatg tttgttctaa atgtttaagt
     4141 gcttctctgt taggttctgg ggcttgcaat catttgaatt gttctgtttc acaataaagg
     4201 agattcactg ggttctgcat tttcaggatt caatagaact gctccattaa aaaaataatc
     4261 cttagcaagc attcgaatcc taactgcttt gatgcacttg ccctcgggca cctgtcattt
     4321 ccaatatggt aggtgtcaaa gtcaaaagta tttactggga gaaaaaagag aggagtggtt
     4381 gtagaagtct ccctaaatca gacatgtcaa gcaatcagcc aacgtggtgt atttctcatt
     4441 caatatttta gtgtgaattg agacactgag ataaagacat cgtgcagaga taaatgggga
     4501 tacagttaaa tgtagcaact cttgagttca ttttttccca ctgtagcaaa attaatgctt
     4561 tctctttatt gaaataaatt gctcattcct caaa
//
