[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1016/0092-8674(91)90614-5; PubMed=1713127 [NCBI, ExPASy, EBI, Israel, Japan]
Itoh N.,
Yonehara S.,
Ishii A.,
Yonehara M.,
Mizushima S.,
Sameshima M.,
Hase A.,
Seto Y.,
Nagata S.;
"The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis.";
Cell 66:233-243(1991).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PROTEIN SEQUENCE OF 226-240; 269-291 AND 321-335.
PubMed=1375228 [NCBI, ExPASy, EBI, Israel, Japan]
Oehm A.,
Behrmann I.,
Falk W.,
Pawlita M.,
Maier G.,
Klas C.,
Li-Weber M.,
Richards S.,
Dhein J.,
Trauth B.C.,
Ponstingl H.,
Krammer P.H.;
"Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily. Sequence identity with the Fas antigen.";
J. Biol. Chem. 267:10709-10715(1992).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6), AND FUNCTION.
PubMed=7533181 [NCBI, ExPASy, EBI, Israel, Japan]
Cascino I.,
Fiucci G.,
Papoff G.,
Ruberti G.;
"Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing.";
J. Immunol. 154:2706-2713(1995).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 6), AND TISSUE SPECIFICITY.
PubMed=7575433 [NCBI, ExPASy, EBI, Israel, Japan]
Liu C.,
Cheng J.,
Mountz J.D.;
"Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation.";
Biochem. J. 310:957-963(1995).
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[5]
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NUCLEOTIDE SEQUENCE (ISOFORM 5).
TISSUE=Peripheral blood lymphocyte;
Schaetzlein C.E.,
Poehlmann R.,
Philippsen P.,
Eibel H.;
Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE (ISOFORMS 4 AND 5).
PubMed=8648105 [NCBI, ExPASy, EBI, Israel, Japan]
Papoff G.,
Cascino I.,
Eramo A.,
Starace G.,
Lynch D.H.,
Ruberti G.;
"An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro.";
J. Immunol. 156:4622-4630(1996).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-16; ILE-122 AND ILE-305.
Livingston R.J.,
Rieder M.J.,
Chung M.-W.,
Ritchie T.K.,
Olson A.N.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Leithauser B.J.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Urinary bladder;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[9]
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INTERACTION WITH RIPK1.
DOI=10.1016/0092-8674(95)90072-1; PubMed=7538908 [NCBI, ExPASy, EBI, Israel, Japan]
Stanger B.Z.,
Leder P.,
Lee T.-H.,
Kim E.,
Seed B.;
"RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death.";
Cell 81:513-523(1995).
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[10]
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INTERACTION WITH FEM1B.
DOI=10.1074/jbc.274.45.32461; PubMed=10542291 [NCBI, ExPASy, EBI, Israel, Japan]
Chan S.-L.,
Tan K.-O.,
Zhang L.,
Yee K.S.Y.,
Ronca F.,
Chan M.-Y.,
Yu V.C.;
"F1Aalpha, a death receptor-binding protein homologous to the Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase substrate that mediates apoptosis.";
J. Biol. Chem. 274:32461-32468(1999).
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[11]
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INTERACTION WITH FAIM2.
DOI=10.1073/pnas.96.22.12667; PubMed=10535980 [NCBI, ExPASy, EBI, Israel, Japan]
Somia N.V.,
Schmitt M.J.,
Vetter D.E.,
Van Antwerp D.,
Heinemann S.F.,
Verma I.M.;
"LFG: an anti-apoptotic gene that provides protection from fas-mediated cell death.";
Proc. Natl. Acad. Sci. U.S.A. 96:12667-12672(1999).
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[12]
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INTERACTION WITH BRE.
DOI=10.1074/jbc.M408678200; PubMed=15465831 [NCBI, ExPASy, EBI, Israel, Japan]
Li Q.,
Ching A.K.-K.,
Chan B.C.-L.,
Chow S.K.-Y.,
Lim P.-L.,
Ho T.C.-Y.,
Ip W.-K.,
Wong C.-K.,
Lam C.W.-K.,
Lee K.K.-H.,
Chan J.Y.-H.,
Chui Y.-L.;
"A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway.";
J. Biol. Chem. 279:52106-52116(2004).
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[13]
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SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
DOI=10.1186/gb-2004-5-2-r8; PubMed=14759258 [NCBI, ExPASy, EBI, Israel, Japan]
Hillman R.T.,
Green R.E.,
Brenner S.E.;
"An unappreciated role for RNA surveillance.";
Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004).
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[14]
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STRUCTURE BY NMR OF 218-335.
DOI=10.1038/384638a0; PubMed=8967952 [NCBI, ExPASy, EBI, Israel, Japan]
Huang B.,
Eberstadt M.,
Olejniczak E.T.,
Meadows R.P.,
Fesik S.W.;
"NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain.";
Nature 384:638-641(1996).
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[15]
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VARIANT ALPS1A PRO-241.
DOI=10.1016/0092-8674(95)90013-6; PubMed=7540117 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher G.H.,
Rosenberg F.J.,
Straus S.E.,
Dale J.K.,
Middleton L.A.,
Lin A.Y.,
Strober W.,
Lenardo M.J.,
Puck J.M.;
"Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.";
Cell 81:935-946(1995).
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[16]
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VARIANT ALPS1A TYR-260.
DOI=10.1056/NEJM199611283352204; PubMed=8929361 [NCBI, ExPASy, EBI, Israel, Japan]
Drappa J.,
Vaishnaw A.K.,
Sullivan K.E.,
Chu J.-L.,
Elkon K.B.;
"Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.";
N. Engl. J. Med. 335:1643-1649(1996).
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[17]
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VARIANTS ALPS1A TRP-121 AND CYS-232.
PubMed=9028321 [NCBI, ExPASy, EBI, Israel, Japan]
Bettinardi A.,
Brugnoni D.,
Quiros-Roldan E.,
Malagoli A.,
La Grutta S.,
Correra A.,
Notarangelo L.D.;
"Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.";
Blood 89:902-909(1997).
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[18]
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VARIANTS ALPS1A ASP-257 AND SER-310.
PubMed=9028957 [NCBI, ExPASy, EBI, Israel, Japan]
Sneller M.C.,
Wang J.,
Dale J.K.,
Strober W.,
Middelton L.A.,
Choi Y.,
Fleisher T.A.,
Lim M.S.,
Jaffe E.S.,
Puck J.M.,
Lenardo M.J.,
Straus S.E.;
"Clincial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.";
Blood 89:1341-1348(1997).
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[19]
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VARIANT ALPS1A ALA-28.
PubMed=9322534 [NCBI, ExPASy, EBI, Israel, Japan]
Pensati L.,
Costanzo A.,
Ianni A.,
Accapezzato D.,
Iorio R.,
Natoli G.,
Nisini R.,
Almerighi C.,
Balsano C.,
Vajro P.,
Vegnente A.,
Levrero M.;
"Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.";
Gastroenterology 113:1384-1389(1997).
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[20]
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VARIANT ALPS1A VAL-260.
DOI=10.1016/S0022-3476(98)70102-7; PubMed=9821419 [NCBI, ExPASy, EBI, Israel, Japan]
Infante A.J.,
Britton H.A.,
DeNapoli T.,
Middelton L.A.,
Lenardo M.J.,
Jackson C.E.,
Wang J.,
Fleisher T.,
Straus S.E.,
Puck J.M.;
"The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.";
J. Pediatr. 133:629-633(1998).
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[21]
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VARIANTS ALPS1A LYS-241 AND GLN-250.
DOI=10.1086/302333; PubMed=10090885 [NCBI, ExPASy, EBI, Israel, Japan]
Jackson C.E.,
Fischer R.E.,
Hsu A.P.,
Anderson S.M.,
Choi Y.,
Wang J.,
Dale J.K.,
Fleisher T.A.,
Middelton L.A.,
Sneller M.C.,
Lenardo M.J.,
Straus S.E.,
Puck J.M.;
"Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.";
Am. J. Hum. Genet. 64:1002-1014(1999).
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[22]
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VARIANT ALPS1A GLY-272.
DOI=10.1016/S0301-472X(99)00033-8; PubMed=10340403 [NCBI, ExPASy, EBI, Israel, Japan]
Peters A.M.,
Kohfink B.,
Martin H.,
Griesinger F.,
Wormann B.,
Gahr M.,
Roesler J.;
"Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.";
Exp. Hematol. 27:868-874(1999).
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[23]
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VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270.
PubMed=9927496 [NCBI, ExPASy, EBI, Israel, Japan]
Vaishnaw A.K.,
Orlinick J.R.,
Chu J.-L.,
Krammer P.H.,
Chao M.V.,
Elkon K.B.;
"The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.";
J. Clin. Invest. 103:355-363(1999).
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[24]
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VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198; VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299.
PubMed=9787134 [NCBI, ExPASy, EBI, Israel, Japan]
Groenbaek K.,
Straten P.T.,
Ralfkiaer E.,
Ahrenkiel V.,
Andersen M.K.,
Hansen N.E.,
Zeuthen J.,
Hou-Jensen K.,
Guldberg P.;
"Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity.";
Blood 92:3018-3024(1998).
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[25]
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VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255.
DOI=10.1046/j.1523-1747.2000.00819.x; PubMed=10620127 [NCBI, ExPASy, EBI, Israel, Japan]
Lee S.H.,
Shin M.S.,
Kim H.S.,
Park W.S.,
Kim S.Y.,
Jang J.J.,
Rhim K.J.,
Jang J.,
Lee H.K.,
Park J.Y.,
Oh R.R.,
Han S.Y.,
Lee J.H.,
Lee J.Y.,
Yoo N.J.;
"Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.";
J. Invest. Dermatol. 114:122-126(2000).
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[26]
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VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272.
DOI=10.1182/blood.V98.1.194; PubMed=11418480 [NCBI, ExPASy, EBI, Israel, Japan]
Straus S.E.,
Jaffe E.S.,
Puck J.M.,
Dale J.K.,
Elkon K.B.,
Roesen-Wolff A.,
Peters A.M.J.,
Sneller M.C.,
Hallahan C.W.,
Wang J.,
Fischer R.E.,
Jackson C.M.,
Lin A.Y.,
Baeumler C.,
Siegert E.,
Marx A.,
Vaishnaw A.K.,
Grodzicky T.,
Fleisher T.A.,
Lenardo M.J.;
"The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.";
Blood 98:194-200(2001).
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