LOCUS NM_001166598 1930 bp mRNA linear PRI 13-JAN-2019 DEFINITION Homo sapiens apolipoprotein A5 (APOA5), transcript variant 2, mRNA. ACCESSION NM_001166598 VERSION NM_001166598.1 KEYWORDS RefSeq. 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 1930) AUTHORS Hsu LC, Hsu LS and Lee TH. TITLE Association of apolipoprotein A1 and A5 polymorphisms with stroke subtypes in Han Chinese people in Taiwan JOURNAL Gene 684, 76-81 (2019) PUBMED 30367981 REMARK GeneRIF: TC+CC genotype of rs662799 is associated with high serum triglyceride and low LDL and BMI levels. In addition, the rs662799 C allele (TC+CC) is an independent protective factor for small vessel occlusion in the Han Chinese population in Taiwan. REFERENCE 2 (bases 1 to 1930) AUTHORS Su X, Kong Y and Peng DQ. TITLE New insights into apolipoprotein A5 in controlling lipoprotein metabolism in obesity and the metabolic syndrome patients JOURNAL Lipids Health Dis 17 (1), 174 (2018) PUBMED 30053818 REMARK GeneRIF: Evidence has established the association between the presence of APOA5 gene SNPs and the risk for obesity. (Review) Review article Publication Status: Online-Only REFERENCE 3 (bases 1 to 1930) AUTHORS Xu Y, Lu LL, Liu SS, Du SX, Zhu HL, Dong QJ and Xin YN. TITLE Apolipoprotein A5 gene polymorphisms are associated with non-alcoholic fatty liver disease JOURNAL HBPD INT 17 (3), 214-219 (2018) PUBMED 29735301 REMARK GeneRIF: Suggest that APOA5 SNPs rs10750097(G/G), rs1263173(A/A), rs17120035(T/T), and rs662799(G/G) may be associated with NAFLD. REFERENCE 4 (bases 1 to 1930) AUTHORS Escobedo J, Paz-Aragon E, Vega-Rodriguez LH, Benitez Sanfeliz MA, Estrada-Rodriguez H, Gonzalez-Figueroa E, Liceaga-Craviotto MG, Gutierrez-Cuevas J, Valladares-Salgado A and Cruz M. TITLE The Methylenetetrahydrofolate Reductase C677T (rs1801133) and Apolipoprotein A5-1131T>C (rs662799) Polymorphisms, and Anemia Are Independent Risk Factors for Ischemic Stroke JOURNAL J Stroke Cerebrovasc Dis 27 (5), 1357-1362 (2018) PUBMED 29398535 REMARK GeneRIF: Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure. REFERENCE 5 (bases 1 to 1930) AUTHORS Chen H, Ding S, Zhou M, Wu X, Liu X, Wu Y and Liu D. TITLE Association of rs662799 in APOA5 with CAD in Chinese Han population JOURNAL BMC Cardiovasc Disord 18 (1), 2 (2018) PUBMED 29310573 REMARK GeneRIF: The minor allele rs662799 in APOA5 was risk factor for coronary artery disease occurrence in the Chinese Han population. Publication Status: Online-Only REFERENCE 6 (bases 1 to 1930) AUTHORS Alborn WE, Johnson MG, Prince MJ and Konrad RJ. TITLE Definitive N-terminal protein sequence and further characterization of the novel apolipoprotein A5 in human serum JOURNAL Clin. Chem. 52 (3), 514-517 (2006) PUBMED 16510431 REFERENCE 7 (bases 1 to 1930) AUTHORS Nabika T, Nasreen S, Kobayashi S and Masuda J. TITLE The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese JOURNAL Atherosclerosis 165 (2), 201-204 (2002) PUBMED 12417270 REMARK GeneRIF: Polymorphism in the apoAV gene influences serum TG in populations of different ethnicities GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (bases 1 to 1930) AUTHORS Pennacchio LA, Olivier M, Hubacek JA, Krauss RM, Rubin EM and Cohen JC. TITLE Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels JOURNAL Hum. Mol. Genet. 11 (24), 3031-3038 (2002) PUBMED 12417524 REMARK GeneRIF: Two haplotypes are found in 25-50% of subjects, supporting the contribution of common variation to quantitative phenotypes. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 9 (bases 1 to 1930) AUTHORS van der Vliet HN, Sammels MG, Leegwater AC, Levels JH, Reitsma PH, Boers W and Chamuleau RA. TITLE Apolipoprotein A-V: a novel apolipoprotein associated with an early phase of liver regeneration JOURNAL J. Biol. Chem. 276 (48), 44512-44520 (2001) PUBMED 11577099 REFERENCE 10 (bases 1 to 1930) AUTHORS Pennacchio LA, Olivier M, Hubacek JA, Cohen JC, Cox DR, Fruchart JC, Krauss RM and Rubin EM. TITLE An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing JOURNAL Science 294 (5540), 169-173 (2001) PUBMED 11588264 REMARK GeneRIF: an important determinant of plasma triglyceride levels COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA641693.1, AF202889.1 and AP006216.1. Summary: The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. 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 :: DA641318.1, AK292739.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162895, SAMN04284274 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-41 DA641693.1 1-41 42-1307 AF202889.1 1-1266 1308-1308 AP006216.1 79018-79018 c 1309-1930 AF202889.1 1268-1889 FEATURES Location/Qualifiers source 1..1930 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11q23.3" gene 1..1930 /gene="APOA5" /gene_synonym="APOAV; RAP3" /note="apolipoprotein A5" /db_xref="GeneID:116519" /db_xref="HGNC:HGNC:17288" /db_xref="MIM:606368" exon 1..41 /gene="APOA5" /gene_synonym="APOAV; RAP3" /inference="alignment:Splign:2.1.0" misc_feature 35..37 /gene="APOA5" /gene_synonym="APOAV; RAP3" /note="upstream in-frame stop codon" STS 42..1200 /gene="APOA5" /gene_synonym="APOAV; RAP3" /db_xref="UniSTS:480554" exon 42..98 /gene="APOA5" /gene_synonym="APOAV; RAP3" /inference="alignment:Splign:2.1.0" CDS 50..1150 /gene="APOA5" /gene_synonym="APOAV; RAP3" /note="regeneration-associated protein 3; apo-AV; apolipoprotein A-V precursor variant 3" /codon_start=1 /product="apolipoprotein A-V precursor" /protein_id="NP_001160070.1" /db_xref="CCDS:CCDS8376.2" /db_xref="GeneID:116519" /db_xref="HGNC:HGNC:17288" /db_xref="MIM:606368" /translation="MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQI HQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEE VKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAP ASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQM LSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPGHSAFAPEFQQTDSG KVLSKLQARLDDLWEDITHSLHDQGHSHLGDP" sig_peptide 50..118 /gene="APOA5" /gene_synonym="APOAV; RAP3" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 119..1147 /gene="APOA5" /gene_synonym="APOAV; RAP3" /product="apolipoprotein A-V" misc_feature 212..214 /gene="APOA5" /gene_synonym="APOAV; RAP3" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine, by FAM20C. {ECO:0000269|PubMed:26091039}; propagated from UniProtKB/Swiss-Prot (Q6Q788.1); other site" misc_feature 224..226 /gene="APOA5" /gene_synonym="APOAV; RAP3" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine. {ECO:0000244|PubMed:24275569}; propagated from UniProtKB/Swiss-Prot (Q6Q788.1); other site" exon 99..210 /gene="APOA5" /gene_synonym="APOAV; RAP3" /inference="alignment:Splign:2.1.0" exon 211..1908 /gene="APOA5" /gene_synonym="APOAV; RAP3" /inference="alignment:Splign:2.1.0" STS 342..579 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73104" /db_xref="UniSTS:397904" STS 345..1789 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="stSG601776" /db_xref="UniSTS:444540" STS 560..809 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73105" /db_xref="UniSTS:397905" STS 784..1568 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="ECD03778" /db_xref="UniSTS:284858" STS 835..1059 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73106" /db_xref="UniSTS:397906" STS 1083..1315 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73107" /db_xref="UniSTS:397907" STS 1303..1537 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73108" /db_xref="UniSTS:397908" polyA_site 1365 /gene="APOA5" /gene_synonym="APOAV; RAP3" /note="The 3' most polyA site has not been determined. This is the 5' most polyA site." STS 1553..1782 /gene="APOA5" /gene_synonym="APOAV; RAP3" /standard_name="REN73109" /db_xref="UniSTS:397909" ORIGIN 1 ataaagcaga atgtctgctc tctgtgccca gacgtgagca gagcagataa tggcaagcat 61 ggctgccgtg ctcacctggg ctctggctct tctttcagcg ttttcggcca cccaggcacg 121 gaaaggcttc tgggactact tcagccagac cagcggggac aaaggcaggg tggagcagat 181 ccatcagcag aagatggctc gcgagcccgc gaccctgaaa gacagccttg agcaagacct 241 caacaatatg aacaagttcc tggaaaagct gaggcctctg agtgggagcg aggctcctcg 301 gctcccacag gacccggtgg gcatgcggcg gcagctgcag gaggagttgg aggaggtgaa 361 ggctcgcctc cagccctaca tggcagaggc gcacgagctg gtgggctgga atttggaggg 421 cttgcggcag caactgaagc cctacacgat ggatctgatg gagcaggtgg ccctgcgcgt 481 gcaggagctg caggagcagt tgcgcgtggt gggggaagac accaaggccc agttgctggg 541 gggcgtggac gaggcttggg ctttgctgca gggactgcag agccgcgtgg tgcaccacac 601 cggccgcttc aaagagctct tccacccata cgccgagagc ctggtgagcg gcatcgggcg 661 ccacgtgcag gagctgcacc gcagtgtggc tccgcacgcc cccgccagcc ccgcgcgcct 721 cagtcgctgc gtgcaggtgc tctcccggaa gctcacgctc aaggccaagg ccctgcacgc 781 acgcatccag cagaacctgg accagctgcg cgaagagctc agcagagcct ttgcaggcac 841 tgggactgag gaaggggccg gcccggaccc ccagatgctc tccgaggagg tgcgccagcg 901 acttcaggct ttccgccagg acacctacct gcagatagct gccttcactc gcgccatcga 961 ccaggagact gaggaggtcc agcagcagct ggcgccacct ccaccaggcc acagtgcctt 1021 cgccccagag tttcaacaaa cagacagtgg caaggttctg agcaagctgc aggcccgtct 1081 ggatgacctg tgggaagaca tcactcacag ccttcatgac cagggccaca gccatctggg 1141 ggacccctga ggatctacct gcccaggccc attcccagct ccttgtctgg ggagccttgg 1201 ctctgagcct ctagcatggt tcagtccttg aaagtggcct gttgggtgga gggtggaagg 1261 tcctgtgcag gacagggagg ccaccaaagg ggctgctgtc tcctgcacat ccagcctcct 1321 gcgactcccc aatctggatg cattacattc accaggcttt gcaaacccag cctcccagtg 1381 ctcatttggg aatgctcatg agttactcca ttcaagggtg agggagtagg gagggagagg 1441 caccatgcat gtgggtgatt atctgcaagc ctgtttgccg tgatgctgga agcctgtgcc 1501 actacatcct ggagtttggc tctagtcact tctggctgcc tggtggccac tgctacagct 1561 ggtccacaga gaggagcact tgtctcccca gggctgccat ggcagctatc aggggaatag 1621 aagggagaaa gagaatatca tggggagaac atgtgatggt gtgtgaatat ccctgctggc 1681 tctgatgctg gtgggtacga aaggtgtggg ctgtgatagg agagggcaga gcccatgttt 1741 cctgacatag ctctacacct aaataaggga ctgaaccctc ccaactgtgg gagctcctta 1801 aaccctctgg ggagcatact gtgtgctctc cccatctcca gcccctccct ctgggttccc 1861 aagttgaagc ctagacttct ggctcaaatg aaatagatgt ttatgataaa aaaaaaaaaa 1921 aaaaaaaaaa //