Full text data of APOL3
APOL3
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Apolipoprotein L3 (Apolipoprotein L-III; ApoL-III; TNF-inducible protein CG12-1; CG12_1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Apolipoprotein L3 (Apolipoprotein L-III; ApoL-III; TNF-inducible protein CG12-1; CG12_1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
O95236
ID APOL3_HUMAN Reviewed; 402 AA.
AC O95236; B1AHI4; B1AHI5; Q5U5N4; Q9BQ82; Q9BQA3;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 25-NOV-2008, sequence version 3.
DT 22-JAN-2014, entry version 108.
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;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; 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
RT factor-alpha in vitro are expressed in atherosclerotic lesions,
RT including inhibitor of apoptosis protein-1, stannin, and two novel
RT genes.";
RL Blood 93:3418-3431(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), AND
RP VARIANT 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,
RT classification, 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.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA 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.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA 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.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., 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.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA 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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May affect the movement of lipids in the cytoplasm or
CC allow the binding of lipids to organelles.
CC -!- SUBCELLULAR LOCATION: Cytoplasm (Probable).
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,
CC trachea and mammary gland; levels are low in brain, heart, fetal
CC liver, pancreas and testis.
CC -!- INDUCTION: In vitro, is responsive to TNF.
CC -!- SIMILARITY: Belongs to the apolipoprotein L family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
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; CAQ08518.1; -; Genomic_DNA.
DR EMBL; Z95114; CAQ08519.1; -; Genomic_DNA.
DR EMBL; CH471095; EAW60080.1; -; Genomic_DNA.
DR EMBL; BC042918; AAH42918.1; -; mRNA.
DR EMBL; BC050596; AAH50596.1; -; mRNA.
DR RefSeq; NP_663615.1; NM_145640.2.
DR RefSeq; NP_663616.1; NM_145641.2.
DR RefSeq; NP_663617.1; NM_145642.2.
DR UniGene; Hs.474737; -.
DR ProteinModelPortal; O95236; -.
DR IntAct; O95236; 4.
DR MINT; MINT-6768689; -.
DR STRING; 9606.ENSP00000344577; -.
DR PhosphoSite; O95236; -.
DR PaxDb; O95236; -.
DR PRIDE; O95236; -.
DR DNASU; 80833; -.
DR Ensembl; ENST00000349314; ENSP00000344577; ENSG00000128284.
DR Ensembl; ENST00000361710; ENSP00000355164; ENSG00000128284.
DR Ensembl; ENST00000397287; ENSP00000380456; ENSG00000128284.
DR Ensembl; ENST00000397293; ENSP00000380461; ENSG00000128284.
DR Ensembl; ENST00000424878; ENSP00000415779; ENSG00000128284.
DR GeneID; 80833; -.
DR KEGG; hsa:80833; -.
DR UCSC; uc003aot.3; human.
DR CTD; 80833; -.
DR GeneCards; GC22M036536; -.
DR HGNC; HGNC:14868; APOL3.
DR MIM; 607253; gene.
DR neXtProt; NX_O95236; -.
DR PharmGKB; PA24906; -.
DR eggNOG; NOG125779; -.
DR HOGENOM; HOG000294132; -.
DR HOVERGEN; HBG074468; -.
DR InParanoid; O95236; -.
DR KO; K14480; -.
DR OMA; IGKNIRA; -.
DR OrthoDB; EOG7K9K41; -.
DR PhylomeDB; O95236; -.
DR ChiTaRS; APOL3; human.
DR GeneWiki; APOL3; -.
DR GenomeRNAi; 80833; -.
DR NextBio; 71256; -.
DR PRO; PR:O95236; -.
DR ArrayExpress; O95236; -.
DR Bgee; O95236; -.
DR CleanEx; HS_APOL3; -.
DR Genevestigator; O95236; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0008289; F:lipid binding; IEA:InterPro.
DR GO; GO:0005319; F:lipid transporter activity; TAS:ProtInc.
DR GO; GO:0004871; F:signal transducer activity; IMP:UniProtKB.
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 cascade; IMP:UniProtKB.
DR InterPro; IPR008405; ApoL.
DR PANTHER; PTHR14096; PTHR14096; 1.
DR Pfam; PF05461; ApoL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Cytoplasm; Lipid transport;
KW Polymorphism; Reference proteome; Transport.
FT CHAIN 1 402 Apolipoprotein L3.
FT /FTId=PRO_0000137602.
FT VAR_SEQ 1 200 Missing (in isoform 3).
FT /FTId=VSP_000294.
FT VAR_SEQ 1 74 MGLGQGWGWEASCFACLIRSCCQVVTFTFPFGFQGISQSLE
FT NVSGYYADARLEVGSTQLRTAGSCSHSFKRSFL -> MDS
FT (in isoform 2).
FT /FTId=VSP_000293.
FT VARIANT 39 39 S -> R (in dbSNP:rs132653).
FT /FTId=VAR_053007.
FT VARIANT 135 135 A -> V (in dbSNP:rs6000152).
FT /FTId=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
//
ID APOL3_HUMAN Reviewed; 402 AA.
AC O95236; B1AHI4; B1AHI5; Q5U5N4; Q9BQ82; Q9BQA3;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 25-NOV-2008, sequence version 3.
DT 22-JAN-2014, entry version 108.
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;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; 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
RT factor-alpha in vitro are expressed in atherosclerotic lesions,
RT including inhibitor of apoptosis protein-1, stannin, and two novel
RT genes.";
RL Blood 93:3418-3431(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), AND
RP VARIANT 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,
RT classification, 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.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA 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.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA 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.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., 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.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA 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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May affect the movement of lipids in the cytoplasm or
CC allow the binding of lipids to organelles.
CC -!- SUBCELLULAR LOCATION: Cytoplasm (Probable).
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,
CC trachea and mammary gland; levels are low in brain, heart, fetal
CC liver, pancreas and testis.
CC -!- INDUCTION: In vitro, is responsive to TNF.
CC -!- SIMILARITY: Belongs to the apolipoprotein L family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
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; CAQ08518.1; -; Genomic_DNA.
DR EMBL; Z95114; CAQ08519.1; -; Genomic_DNA.
DR EMBL; CH471095; EAW60080.1; -; Genomic_DNA.
DR EMBL; BC042918; AAH42918.1; -; mRNA.
DR EMBL; BC050596; AAH50596.1; -; mRNA.
DR RefSeq; NP_663615.1; NM_145640.2.
DR RefSeq; NP_663616.1; NM_145641.2.
DR RefSeq; NP_663617.1; NM_145642.2.
DR UniGene; Hs.474737; -.
DR ProteinModelPortal; O95236; -.
DR IntAct; O95236; 4.
DR MINT; MINT-6768689; -.
DR STRING; 9606.ENSP00000344577; -.
DR PhosphoSite; O95236; -.
DR PaxDb; O95236; -.
DR PRIDE; O95236; -.
DR DNASU; 80833; -.
DR Ensembl; ENST00000349314; ENSP00000344577; ENSG00000128284.
DR Ensembl; ENST00000361710; ENSP00000355164; ENSG00000128284.
DR Ensembl; ENST00000397287; ENSP00000380456; ENSG00000128284.
DR Ensembl; ENST00000397293; ENSP00000380461; ENSG00000128284.
DR Ensembl; ENST00000424878; ENSP00000415779; ENSG00000128284.
DR GeneID; 80833; -.
DR KEGG; hsa:80833; -.
DR UCSC; uc003aot.3; human.
DR CTD; 80833; -.
DR GeneCards; GC22M036536; -.
DR HGNC; HGNC:14868; APOL3.
DR MIM; 607253; gene.
DR neXtProt; NX_O95236; -.
DR PharmGKB; PA24906; -.
DR eggNOG; NOG125779; -.
DR HOGENOM; HOG000294132; -.
DR HOVERGEN; HBG074468; -.
DR InParanoid; O95236; -.
DR KO; K14480; -.
DR OMA; IGKNIRA; -.
DR OrthoDB; EOG7K9K41; -.
DR PhylomeDB; O95236; -.
DR ChiTaRS; APOL3; human.
DR GeneWiki; APOL3; -.
DR GenomeRNAi; 80833; -.
DR NextBio; 71256; -.
DR PRO; PR:O95236; -.
DR ArrayExpress; O95236; -.
DR Bgee; O95236; -.
DR CleanEx; HS_APOL3; -.
DR Genevestigator; O95236; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0008289; F:lipid binding; IEA:InterPro.
DR GO; GO:0005319; F:lipid transporter activity; TAS:ProtInc.
DR GO; GO:0004871; F:signal transducer activity; IMP:UniProtKB.
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 cascade; IMP:UniProtKB.
DR InterPro; IPR008405; ApoL.
DR PANTHER; PTHR14096; PTHR14096; 1.
DR Pfam; PF05461; ApoL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Cytoplasm; Lipid transport;
KW Polymorphism; Reference proteome; Transport.
FT CHAIN 1 402 Apolipoprotein L3.
FT /FTId=PRO_0000137602.
FT VAR_SEQ 1 200 Missing (in isoform 3).
FT /FTId=VSP_000294.
FT VAR_SEQ 1 74 MGLGQGWGWEASCFACLIRSCCQVVTFTFPFGFQGISQSLE
FT NVSGYYADARLEVGSTQLRTAGSCSHSFKRSFL -> MDS
FT (in isoform 2).
FT /FTId=VSP_000293.
FT VARIANT 39 39 S -> R (in dbSNP:rs132653).
FT /FTId=VAR_053007.
FT VARIANT 135 135 A -> V (in dbSNP:rs6000152).
FT /FTId=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
//
MIM
607253
*RECORD*
*FIELD* NO
607253
*FIELD* TI
*607253 APOLIPOPROTEIN L-III; APOL3
;;APOL-III
*FIELD* TX
DESCRIPTION
Apolipoprotein L (APOL) proteins belong to the high density lipoprotein
read morefamily, which plays a central role in cholesterol transport. The
cholesterol content of membranes is important in cellular processes such
as modulating gene transcription and signal transduction both in the
adult brain and during neurodevelopment. The 6 APOL genes are clustered
on chromosome 22q12.3.
CLONING
Horrevoets et al. (1999) identified APOL3, which they designated CG12-1,
using differential display analysis to identify genes induced in human
umbilical vein endothelial cells (HUVECs) incubated with
monocyte-conditioned medium and/or stimulated by tumor necrosis
factor-alpha (TNFA; 191160). The deduced 331-amino acid protein shares
significant similarity with APOL1 (603743). In situ hybridization showed
expression in endothelial cells lining the iliac artery and aorta of
both normal and atherosclerotic vascular tissue.
By EST and genomic sequence analysis, Duchateau et al. (2001) identified
several APOL genes on chromosome 22, including APOL3. They also
identified several APOL3 splice variants. Due to the close homology
between the APOL genes, Duchateau et al. (2001) coamplified transcripts
from APOL1, APOL2 (607252), and APOL3 and used gene-specific restriction
enzymes to identify APOL3-specific PCR products. Four APOL3 transcripts
were expressed ubiquitously, although at different levels in specific
tissues. Highest expression was in lung.
By semiquantitative RT-PCR, Page et al. (2001) detected ubiquitous
expression of APOL3, which they designated APOL4, with highest levels in
spinal cord, placenta, and adrenal gland, and lowest levels in brain,
heart, and pancreas.
Monajemi et al. (2002) noted that the deduced APOL3 protein contains no
consensus signal peptide. Northern blot analysis revealed a single
2.3-kb transcript. Highest expression was in placenta, lung, and liver,
with low expression in kidney and heart and no expression in pancreas.
In situ analysis of human vascular tissue revealed expression of APOL3
specific to endothelial cells.
GENE FUNCTION
Horrevoets et al. (1999) found that APOL3 was induced more than 10-fold
following activation of HUVECs with TNFA.
GENE STRUCTURE
Duchateau et al. (2001) determined that the APOL3 gene contains 7 exons.
The promoter regions of the APOL1, APOL2, APOL3, and APOL4 (607254)
genes have at least 1 SP1 (189906) site, a number of AP1 (165160) and
AP4 (600743) sites, at least 1 GC box, multiple zinc finger-binding
sites, and at least 1 sterol regulatory element-binding protein (see
184756) site. Each contains at least 2 conserved initiator sequences.
The most commonly used promoter regions are TATA-less with multiple
transcription initiation sites. APOL3 contains an alternative
transcriptional start site due to an additional 5-prime exon.
Monajemi et al. (2002) determined that the APOL3 gene spans
approximately 21 kb. Noting homology within intronic sequences, they
concluded that the APOL1, APOL2, APOL3, and APOL4 gene cluster is the
result of tandem gene duplication, whereas APOL5 (607255) and APOL6
(607256) are more distantly related.
MAPPING
By genomic sequence analysis, Duchateau et al. (2001) mapped the APOL3
gene to chromosome 22q12.1-q13.1. It is located in a cluster with APOL1,
APOL2, and APOL4 that spans 127 kb. APOL1 is in the opposite orientation
to the other 3. Page et al. (2001) found that the APOL cluster contains
6 genes and spans 619 kb.
In their figure 3, Mimmack et al. (2002) diagrammed the genomic
organization of the APOL gene family on chromosome 22q12.3. The COMT
gene (116790) on chromosome 22q11 is 15.2 Mb from the APOL6 gene, which
is located at the telomeric end of the APOL gene cluster. The APOL1 gene
is at the telomeric end of the cluster.
MOLECULAR GENETICS
For discussion of a possible association between variation in the APOL3
gene and prostate cancer, see HPC6 (609558).
*FIELD* RF
1. Duchateau, P. N.; Pullinger, C. R.; Cho, M. H.; Eng, C.; Kane,
J. P.: Apolipoprotein L gene family: tissue-specific expression,
splicing, promoter regions; discovery of a new gene. J. Lipid Res. 42:
620-630, 2001.
2. Horrevoets, A. J.; Fontijn, R. D.; van Zonneveld, A. J.; de Vries,
C. J. M.; ten Cate, J. W.; Pannekoek, H.: Vascular endothelial genes
that are responsive to tumor necrosis factor-alpha in vitro are expressed
in atherosclerotic lesions, including inhibitor of apoptosis protein-1,
stannin, and two novel genes. Blood 93: 3418-3431, 1999.
3. Mimmack, M. L.; Ryan, M.; Baba, H.; Navarro-Ruiz, J.; Iritani,
S.; Faull, R. L. M.; McKenna, P. J.; Jones, P. B.; Arai, H.; Starkey,
M.; Emson, P. C.; Bahn, S.: Gene expression analysis in schizophrenia:
reproducible up-regulation of several members of the apolipoprotein
L family located in a high-susceptibility locus for schizophrenia
on chromosome 22. Proc. Nat. Acad. Sci. 99: 4680-4685, 2002.
4. Monajemi, H.; Fontijn, R. D.; Pannekoek, H.; Horrevoets, A. J.
G.: The apolipoprotein L gene cluster has emerged recently in evolution
and is expressed in human vascular tissue. Genomics 79: 539-546,
2002.
5. Page, N. M.; Butlin, D. J.; Lomthaisong, K.; Lowry, P. J.: The
human apolipoprotein L gene cluster: identification, classification,
and sites of distribution. Genomics 74: 71-78, 2001.
*FIELD* CN
Cassandra L. Kniffin - updated: 3/14/2013
Patricia A. Hartz - updated: 9/25/2002
*FIELD* CD
Victor A. McKusick: 9/24/2002
*FIELD* ED
carol: 03/14/2013
ckniffin: 3/14/2013
terry: 9/9/2010
terry: 1/2/2003
mgross: 9/25/2002
mgross: 9/24/2002
*RECORD*
*FIELD* NO
607253
*FIELD* TI
*607253 APOLIPOPROTEIN L-III; APOL3
;;APOL-III
*FIELD* TX
DESCRIPTION
Apolipoprotein L (APOL) proteins belong to the high density lipoprotein
read morefamily, which plays a central role in cholesterol transport. The
cholesterol content of membranes is important in cellular processes such
as modulating gene transcription and signal transduction both in the
adult brain and during neurodevelopment. The 6 APOL genes are clustered
on chromosome 22q12.3.
CLONING
Horrevoets et al. (1999) identified APOL3, which they designated CG12-1,
using differential display analysis to identify genes induced in human
umbilical vein endothelial cells (HUVECs) incubated with
monocyte-conditioned medium and/or stimulated by tumor necrosis
factor-alpha (TNFA; 191160). The deduced 331-amino acid protein shares
significant similarity with APOL1 (603743). In situ hybridization showed
expression in endothelial cells lining the iliac artery and aorta of
both normal and atherosclerotic vascular tissue.
By EST and genomic sequence analysis, Duchateau et al. (2001) identified
several APOL genes on chromosome 22, including APOL3. They also
identified several APOL3 splice variants. Due to the close homology
between the APOL genes, Duchateau et al. (2001) coamplified transcripts
from APOL1, APOL2 (607252), and APOL3 and used gene-specific restriction
enzymes to identify APOL3-specific PCR products. Four APOL3 transcripts
were expressed ubiquitously, although at different levels in specific
tissues. Highest expression was in lung.
By semiquantitative RT-PCR, Page et al. (2001) detected ubiquitous
expression of APOL3, which they designated APOL4, with highest levels in
spinal cord, placenta, and adrenal gland, and lowest levels in brain,
heart, and pancreas.
Monajemi et al. (2002) noted that the deduced APOL3 protein contains no
consensus signal peptide. Northern blot analysis revealed a single
2.3-kb transcript. Highest expression was in placenta, lung, and liver,
with low expression in kidney and heart and no expression in pancreas.
In situ analysis of human vascular tissue revealed expression of APOL3
specific to endothelial cells.
GENE FUNCTION
Horrevoets et al. (1999) found that APOL3 was induced more than 10-fold
following activation of HUVECs with TNFA.
GENE STRUCTURE
Duchateau et al. (2001) determined that the APOL3 gene contains 7 exons.
The promoter regions of the APOL1, APOL2, APOL3, and APOL4 (607254)
genes have at least 1 SP1 (189906) site, a number of AP1 (165160) and
AP4 (600743) sites, at least 1 GC box, multiple zinc finger-binding
sites, and at least 1 sterol regulatory element-binding protein (see
184756) site. Each contains at least 2 conserved initiator sequences.
The most commonly used promoter regions are TATA-less with multiple
transcription initiation sites. APOL3 contains an alternative
transcriptional start site due to an additional 5-prime exon.
Monajemi et al. (2002) determined that the APOL3 gene spans
approximately 21 kb. Noting homology within intronic sequences, they
concluded that the APOL1, APOL2, APOL3, and APOL4 gene cluster is the
result of tandem gene duplication, whereas APOL5 (607255) and APOL6
(607256) are more distantly related.
MAPPING
By genomic sequence analysis, Duchateau et al. (2001) mapped the APOL3
gene to chromosome 22q12.1-q13.1. It is located in a cluster with APOL1,
APOL2, and APOL4 that spans 127 kb. APOL1 is in the opposite orientation
to the other 3. Page et al. (2001) found that the APOL cluster contains
6 genes and spans 619 kb.
In their figure 3, Mimmack et al. (2002) diagrammed the genomic
organization of the APOL gene family on chromosome 22q12.3. The COMT
gene (116790) on chromosome 22q11 is 15.2 Mb from the APOL6 gene, which
is located at the telomeric end of the APOL gene cluster. The APOL1 gene
is at the telomeric end of the cluster.
MOLECULAR GENETICS
For discussion of a possible association between variation in the APOL3
gene and prostate cancer, see HPC6 (609558).
*FIELD* RF
1. Duchateau, P. N.; Pullinger, C. R.; Cho, M. H.; Eng, C.; Kane,
J. P.: Apolipoprotein L gene family: tissue-specific expression,
splicing, promoter regions; discovery of a new gene. J. Lipid Res. 42:
620-630, 2001.
2. Horrevoets, A. J.; Fontijn, R. D.; van Zonneveld, A. J.; de Vries,
C. J. M.; ten Cate, J. W.; Pannekoek, H.: Vascular endothelial genes
that are responsive to tumor necrosis factor-alpha in vitro are expressed
in atherosclerotic lesions, including inhibitor of apoptosis protein-1,
stannin, and two novel genes. Blood 93: 3418-3431, 1999.
3. Mimmack, M. L.; Ryan, M.; Baba, H.; Navarro-Ruiz, J.; Iritani,
S.; Faull, R. L. M.; McKenna, P. J.; Jones, P. B.; Arai, H.; Starkey,
M.; Emson, P. C.; Bahn, S.: Gene expression analysis in schizophrenia:
reproducible up-regulation of several members of the apolipoprotein
L family located in a high-susceptibility locus for schizophrenia
on chromosome 22. Proc. Nat. Acad. Sci. 99: 4680-4685, 2002.
4. Monajemi, H.; Fontijn, R. D.; Pannekoek, H.; Horrevoets, A. J.
G.: The apolipoprotein L gene cluster has emerged recently in evolution
and is expressed in human vascular tissue. Genomics 79: 539-546,
2002.
5. Page, N. M.; Butlin, D. J.; Lomthaisong, K.; Lowry, P. J.: The
human apolipoprotein L gene cluster: identification, classification,
and sites of distribution. Genomics 74: 71-78, 2001.
*FIELD* CN
Cassandra L. Kniffin - updated: 3/14/2013
Patricia A. Hartz - updated: 9/25/2002
*FIELD* CD
Victor A. McKusick: 9/24/2002
*FIELD* ED
carol: 03/14/2013
ckniffin: 3/14/2013
terry: 9/9/2010
terry: 1/2/2003
mgross: 9/25/2002
mgross: 9/24/2002