APOL3_HUMAN
ID APOL3_HUMAN Reviewed; 402 AA.
AC O95236; B1AHI4; B1AHI5; Q5U5N4; Q9BQ82; Q9BQA3;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Apolipoprotein L3;
DE AltName: Full=Apolipoprotein L-III;
DE Short=ApoL-III;
DE AltName: Full=TNF-inducible protein CG12-1;
DE Short=CG12_1;
GN Name=APOL3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Endothelial cell;
RX PubMed=10233894;
RA Horrevoets A.J.G., Fontijn R.D., van Zonneveld A.J., de Vries C.J.M.,
RA ten Cate J.W., Pannekoek H.;
RT "Vascular endothelial genes that are responsive to tumor necrosis factor-
RT alpha in vitro are expressed in atherosclerotic lesions, including
RT inhibitor of apoptosis protein-1, stannin, and two novel genes.";
RL Blood 93:3418-3431(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP ARG-39.
RC TISSUE=Pancreas;
RX PubMed=11290834;
RA Duchateau P.N., Pullinger C.R., Cho M.H., Eng C., Kane J.P.;
RT "Apolipoprotein L gene family: tissue-specific expression, splicing,
RT promoter regions; discovery of a new gene.";
RL J. Lipid Res. 42:620-630(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RX PubMed=11374903; DOI=10.1006/geno.2001.6534;
RA Page N.M., Butlin D.J., Lomthaisong K., Lowry P.J.;
RT "The human apolipoprotein L gene cluster: identification, classification,
RT and sites of distribution.";
RL Genomics 74:71-78(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Blood, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: May affect the movement of lipids in the cytoplasm or allow
CC the binding of lipids to organelles.
CC -!- INTERACTION:
CC O95236-2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-11976321, EBI-18535450;
CC O95236-2; Q969F0: FATE1; NbExp=3; IntAct=EBI-11976321, EBI-743099;
CC O95236-2; P48165: GJA8; NbExp=3; IntAct=EBI-11976321, EBI-17458373;
CC O95236-2; P08034: GJB1; NbExp=3; IntAct=EBI-11976321, EBI-17565645;
CC O95236-2; O95377: GJB5; NbExp=3; IntAct=EBI-11976321, EBI-3909454;
CC O95236-2; P36383: GJC1; NbExp=3; IntAct=EBI-11976321, EBI-11979659;
CC O95236-2; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-11976321, EBI-13345167;
CC O95236-2; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-11976321, EBI-13067820;
CC O95236-2; O00219-2: HAS3; NbExp=3; IntAct=EBI-11976321, EBI-17186025;
CC O95236-2; P16871: IL7R; NbExp=3; IntAct=EBI-11976321, EBI-80490;
CC O95236-2; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-11976321, EBI-2820517;
CC O95236-2; Q8N386: LRRC25; NbExp=3; IntAct=EBI-11976321, EBI-11304917;
CC O95236-2; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-11976321, EBI-2858252;
CC O95236-2; P61601: NCALD; NbExp=3; IntAct=EBI-11976321, EBI-749635;
CC O95236-2; Q01453: PMP22; NbExp=3; IntAct=EBI-11976321, EBI-2845982;
CC O95236-2; Q6ZMZ0: RNF19B; NbExp=3; IntAct=EBI-11976321, EBI-2466594;
CC O95236-2; Q16585: SGCB; NbExp=3; IntAct=EBI-11976321, EBI-5663627;
CC O95236-2; Q15758: SLC1A5; NbExp=3; IntAct=EBI-11976321, EBI-356576;
CC O95236-2; Q8TBB6: SLC7A14; NbExp=3; IntAct=EBI-11976321, EBI-5235586;
CC O95236-2; Q16623: STX1A; NbExp=3; IntAct=EBI-11976321, EBI-712466;
CC O95236-2; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-11976321, EBI-6268651;
CC O95236-2; Q9NRX6: TMEM167B; NbExp=3; IntAct=EBI-11976321, EBI-17684533;
CC O95236-2; Q96Q45-2: TMEM237; NbExp=3; IntAct=EBI-11976321, EBI-10982110;
CC O95236-2; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-11976321, EBI-18178701;
CC O95236-2; Q9UBN6: TNFRSF10D; NbExp=3; IntAct=EBI-11976321, EBI-1044859;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95236-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95236-2; Sequence=VSP_000293;
CC Name=3;
CC IsoId=O95236-3; Sequence=VSP_000294;
CC -!- TISSUE SPECIFICITY: Widely expressed; the highest levels are in
CC prostate, lung and placenta; also detected in kidney, bone marrow,
CC spleen, thymus, spinal cord, adrenal gland, salivary gland, trachea and
CC mammary gland; levels are low in brain, heart, fetal liver, pancreas
CC and testis.
CC -!- INDUCTION: In vitro, is responsive to TNF.
CC -!- SIMILARITY: Belongs to the apolipoprotein L family. {ECO:0000305}.
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DR EMBL; AF070675; AAC83233.1; -; mRNA.
DR EMBL; AF324238; AAK26528.1; -; Genomic_DNA.
DR EMBL; AF324233; AAK26528.1; JOINED; Genomic_DNA.
DR EMBL; AF324237; AAK26528.1; JOINED; Genomic_DNA.
DR EMBL; AY014904; AAG50346.1; -; mRNA.
DR EMBL; AF324238; AAK26529.1; -; Genomic_DNA.
DR EMBL; AF324236; AAK26529.1; JOINED; Genomic_DNA.
DR EMBL; AF324237; AAK26529.1; JOINED; Genomic_DNA.
DR EMBL; AY014902; AAG50344.1; -; mRNA.
DR EMBL; AY014903; AAG50345.1; -; mRNA.
DR EMBL; AY014905; AAG50347.1; -; mRNA.
DR EMBL; AF324238; AAK26527.1; -; Genomic_DNA.
DR EMBL; AY014906; AAG50348.1; -; mRNA.
DR EMBL; AY014907; AAG50349.1; -; mRNA.
DR EMBL; AF305227; AAK20213.1; -; mRNA.
DR EMBL; CR456379; CAG30265.1; -; mRNA.
DR EMBL; Z95114; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471095; EAW60080.1; -; Genomic_DNA.
DR EMBL; BC042918; AAH42918.1; -; mRNA.
DR EMBL; BC050596; AAH50596.1; -; mRNA.
DR CCDS; CCDS13922.1; -. [O95236-1]
DR CCDS; CCDS13923.1; -. [O95236-2]
DR CCDS; CCDS13924.1; -. [O95236-3]
DR RefSeq; NP_055164.1; NM_014349.2. [O95236-2]
DR RefSeq; NP_085147.1; NM_030644.1. [O95236-2]
DR RefSeq; NP_663614.1; NM_145639.1. [O95236-2]
DR RefSeq; NP_663615.1; NM_145640.2. [O95236-1]
DR RefSeq; NP_663616.1; NM_145641.2. [O95236-3]
DR RefSeq; NP_663617.1; NM_145642.2. [O95236-3]
DR RefSeq; XP_006724387.1; XM_006724324.1.
DR RefSeq; XP_006724388.1; XM_006724325.2. [O95236-2]
DR RefSeq; XP_016884441.1; XM_017028952.1. [O95236-3]
DR AlphaFoldDB; O95236; -.
DR SMR; O95236; -.
DR BioGRID; 123326; 32.
DR IntAct; O95236; 30.
DR STRING; 9606.ENSP00000344577; -.
DR GlyGen; O95236; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O95236; -.
DR PhosphoSitePlus; O95236; -.
DR BioMuta; APOL3; -.
DR EPD; O95236; -.
DR jPOST; O95236; -.
DR MassIVE; O95236; -.
DR MaxQB; O95236; -.
DR PaxDb; O95236; -.
DR PeptideAtlas; O95236; -.
DR PRIDE; O95236; -.
DR ProteomicsDB; 50733; -. [O95236-1]
DR ProteomicsDB; 50734; -. [O95236-2]
DR ProteomicsDB; 50735; -. [O95236-3]
DR Antibodypedia; 25500; 191 antibodies from 32 providers.
DR DNASU; 80833; -.
DR Ensembl; ENST00000349314.6; ENSP00000344577.2; ENSG00000128284.19. [O95236-1]
DR Ensembl; ENST00000361710.6; ENSP00000355164.2; ENSG00000128284.19. [O95236-3]
DR Ensembl; ENST00000397287.6; ENSP00000380456.2; ENSG00000128284.19. [O95236-3]
DR Ensembl; ENST00000397293.6; ENSP00000380461.3; ENSG00000128284.19. [O95236-3]
DR Ensembl; ENST00000424878.3; ENSP00000415779.3; ENSG00000128284.19. [O95236-2]
DR GeneID; 80833; -.
DR KEGG; hsa:80833; -.
DR MANE-Select; ENST00000424878.4; ENSP00000415779.3; NM_145639.2; NP_663614.1. [O95236-2]
DR UCSC; uc003aot.4; human. [O95236-1]
DR CTD; 80833; -.
DR DisGeNET; 80833; -.
DR GeneCards; APOL3; -.
DR HGNC; HGNC:14868; APOL3.
DR HPA; ENSG00000128284; Low tissue specificity.
DR MIM; 607253; gene.
DR neXtProt; NX_O95236; -.
DR OpenTargets; ENSG00000128284; -.
DR PharmGKB; PA24906; -.
DR VEuPathDB; HostDB:ENSG00000128284; -.
DR eggNOG; ENOG502RZGU; Eukaryota.
DR GeneTree; ENSGT01030000234599; -.
DR HOGENOM; CLU_046288_2_0_1; -.
DR InParanoid; O95236; -.
DR OMA; RHIHAIR; -.
DR OrthoDB; 1060131at2759; -.
DR PhylomeDB; O95236; -.
DR TreeFam; TF334681; -.
DR PathwayCommons; O95236; -.
DR SignaLink; O95236; -.
DR BioGRID-ORCS; 80833; 11 hits in 1076 CRISPR screens.
DR ChiTaRS; APOL3; human.
DR GeneWiki; APOL3; -.
DR GenomeRNAi; 80833; -.
DR Pharos; O95236; Tbio.
DR PRO; PR:O95236; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; O95236; protein.
DR Bgee; ENSG00000128284; Expressed in granulocyte and 186 other tissues.
DR ExpressionAtlas; O95236; baseline and differential.
DR Genevisible; O95236; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0008289; F:lipid binding; IBA:GO_Central.
DR GO; GO:0005319; F:lipid transporter activity; TAS:ProtInc.
DR GO; GO:0006954; P:inflammatory response; TAS:ProtInc.
DR GO; GO:0042157; P:lipoprotein metabolic process; IEA:InterPro.
DR GO; GO:0043123; P:positive regulation of I-kappaB kinase/NF-kappaB signaling; HMP:UniProtKB.
DR InterPro; IPR008405; ApoL.
DR PANTHER; PTHR14096; PTHR14096; 1.
DR Pfam; PF05461; ApoL; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Lipid transport; Reference proteome;
KW Transport.
FT CHAIN 1..402
FT /note="Apolipoprotein L3"
FT /id="PRO_0000137602"
FT VAR_SEQ 1..200
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11290834"
FT /id="VSP_000294"
FT VAR_SEQ 1..74
FT /note="MGLGQGWGWEASCFACLIRSCCQVVTFTFPFGFQGISQSLENVSGYYADARL
FT EVGSTQLRTAGSCSHSFKRSFL -> MDS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10233894,
FT ECO:0000303|PubMed:11290834, ECO:0000303|PubMed:11374903,
FT ECO:0000303|PubMed:15461802, ECO:0000303|PubMed:15489334"
FT /id="VSP_000293"
FT VARIANT 39
FT /note="S -> R (in dbSNP:rs132653)"
FT /evidence="ECO:0000269|PubMed:11290834"
FT /id="VAR_053007"
FT VARIANT 135
FT /note="A -> V (in dbSNP:rs6000152)"
FT /id="VAR_047488"
SQ SEQUENCE 402 AA; 44278 MW; 8356C8247817F66A CRC64;
MGLGQGWGWE ASCFACLIRS CCQVVTFTFP FGFQGISQSL ENVSGYYADA RLEVGSTQLR
TAGSCSHSFK RSFLEKKRFT EEATKYFRER VSPVHLQILL TNNEAWKRFV TAAELPRDEA
DALYEALKKL RTYAAIEDEY VQQKDEQFRE WFLKEFPQVK RKIQESIEKL RALANGIEEV
HRGCTISNVV SSSTGAASGI MSLAGLVLAP FTAGTSLALT AAGVGLGAAS AVTGITTSIV
EHSYTSSAEA EASRLTATSI DRLKVFKEVM RDITPNLLSL LNNYYEATQT IGSEIRAIRQ
ARARARLPVT TWRISAGSGG QAERTIAGTT RAVSRGARIL SATTSGIFLA LDVVNLVYES
KHLHEGAKSA SAEELRRQAQ ELEENLMELT QIYQRLNPCH TH
