LOCUS       NM_003824               1708 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens Fas associated via death domain (FADD), mRNA.
ACCESSION   NM_003824
VERSION     NM_003824.4
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 1708)
  AUTHORS   Giovannini,G., Giannoccaro,M.P., Cioclu,M.C., Orlandi,N.,
            Liguori,R. and Meletti,S.
  TITLE     FADD gene pathogenic variants causing recurrent febrile
            infection-related epilepsy syndrome: Case report and literature
            review
  JOURNAL   Epilepsia 65 (7), e119-e124 (2024)
   PUBMED   38752438
  REMARK    GeneRIF: FADD gene pathogenic variants causing recurrent febrile
            infection-related epilepsy syndrome: Case report and literature
            review.
            Review article
REFERENCE   2  (bases 1 to 1708)
  AUTHORS   Yang,C.Y., Lien,C.I., Tseng,Y.C., Tu,Y.F., Kulczyk,A.W., Lu,Y.C.,
            Wang,Y.T., Su,T.W., Hsu,L.C., Lo,Y.C. and Lin,S.C.
  TITLE     Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP
            complexes regulating apoptosis
  JOURNAL   Nat Commun 15 (1), 3791 (2024)
   PUBMED   38710704
  REMARK    GeneRIF: Deciphering DED assembly mechanisms in
            FADD-procaspase-8-cFLIP complexes regulating apoptosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1708)
  AUTHORS   Rensing-Ehl,A., Lorenz,M.R., Fuhrer,M., Willenbacher,W.,
            Willenbacher,E., Sopper,S., Abinun,M., Maccari,M.E., Konig,C.,
            Haegele,P., Fuchs,S., Castro,C., Kury,P., Pelle,O., Klemann,C.,
            Heeg,M., Thalhammer,J., Wegehaupt,O., Fischer,M., Goldacker,S.,
            Schulte,B., Biskup,S., Chatelain,P., Schuster,V., Warnatz,K.,
            Grimbacher,B., Meinhardt,A., Holzinger,D., Oommen,P.T., Hinze,T.,
            Hebart,H., Seeger,K., Lehmberg,K., Leahy,T.R., Claviez,A.,
            Vieth,S., Schilling,F.H., Fuchs,I., Gross,M., Rieux-Laucat,F.,
            Magerus,A., Speckmann,C., Schwarz,K. and Ehl,S.
  CONSRTM   ALPS Study Group
  TITLE     Abnormal biomarkers predict complex FAS or FADD defects missed by
            exome sequencing
  JOURNAL   J Allergy Clin Immunol 153 (1), 297-308 (2024)
   PUBMED   37979702
  REMARK    GeneRIF: Abnormal biomarkers predict complex FAS or FADD defects
            missed by exome sequencing.
REFERENCE   4  (bases 1 to 1708)
  AUTHORS   Pelle,O., Moreno,S., Lorenz,M.R., Riller,Q., Fuehrer,M.,
            Stolzenberg,M.C., Maccari,M.E., Lenoir,C., Cheminant,M., Hinze,T.,
            Hebart,H.F., Konig,C., Schvartz,A., Schmitt,Y., Vinit,A., Henry,E.,
            Touzart,A., Villarese,P., Isnard,P., Neveux,N., Landman-Parker,J.,
            Picard,C., Fouyssac,F., Neven,B., Grimbacher,B., Speckmann,C.,
            Fischer,A., Latour,S., Schwarz,K., Ehl,S., Rieux-Laucat,F.,
            Rensing-Ehl,A. and Magerus,A.
  TITLE     Combined germline and somatic human FADD mutations cause autoimmune
            lymphoproliferative syndrome
  JOURNAL   J Allergy Clin Immunol 153 (1), 203-215 (2024)
   PUBMED   37793571
  REMARK    GeneRIF: Combined germline and somatic human FADD mutations cause
            autoimmune lymphoproliferative syndrome.
REFERENCE   5  (bases 1 to 1708)
  AUTHORS   Awadia,S., Sitto,M., Ram,S., Ji,W., Liu,Y., Damani,R., Ray,D.,
            Lawrence,T.S., Galban,C.J., Cappell,S.D. and Rehemtulla,A.
  TITLE     The adapter protein FADD provides an alternate pathway for entry
            into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase
            activity
  JOURNAL   J Biol Chem 299 (6), 104786 (2023)
   PUBMED   37146968
  REMARK    GeneRIF: The adapter protein FADD provides an alternate pathway for
            entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin
            ligase activity.
REFERENCE   6  (bases 1 to 1708)
  AUTHORS   Kim,P.K., Dutra,A.S., Chandrasekharappa,S.C. and Puck,J.M.
  TITLE     Genomic structure and mapping of human FADD, an intracellular
            mediator of lymphocyte apoptosis
  JOURNAL   J Immunol 157 (12), 5461-5466 (1996)
   PUBMED   8955195
REFERENCE   7  (bases 1 to 1708)
  AUTHORS   Boldin,M.P., Goncharov,T.M., Goltsev,Y.V. and Wallach,D.
  TITLE     Involvement of MACH, a novel MORT1/FADD-interacting protease, in
            Fas/APO-1- and TNF receptor-induced cell death
  JOURNAL   Cell 85 (6), 803-815 (1996)
   PUBMED   8681376
REFERENCE   8  (bases 1 to 1708)
  AUTHORS   Hsu,H., Shu,H.B., Pan,M.G. and Goeddel,D.V.
  TITLE     TRADD-TRAF2 and TRADD-FADD interactions define two distinct TNF
            receptor 1 signal transduction pathways
  JOURNAL   Cell 84 (2), 299-308 (1996)
   PUBMED   8565075
REFERENCE   9  (bases 1 to 1708)
  AUTHORS   Chinnaiyan,A.M., O'Rourke,K., Tewari,M. and Dixit,V.M.
  TITLE     FADD, a novel death domain-containing protein, interacts with the
            death domain of Fas and initiates apoptosis
  JOURNAL   Cell 81 (4), 505-512 (1995)
   PUBMED   7538907
REFERENCE   10 (bases 1 to 1708)
  AUTHORS   Boldin,M.P., Varfolomeev,E.E., Pancer,Z., Mett,I.L., Camonis,J.H.
            and Wallach,D.
  TITLE     A novel protein that interacts with the death domain of Fas/APO1
            contains a sequence motif related to the death domain
  JOURNAL   J Biol Chem 270 (14), 7795-7798 (1995)
   PUBMED   7536190
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL575732.1, BC000334.2,
            AP000879.4 and AI886015.1.
            
            On Dec 4, 2019 this sequence version replaced NM_003824.3.
            
            Summary: The protein encoded by this gene is an adaptor molecule
            that interacts with various cell surface receptors and mediates
            cell apoptotic signals. Through its C-terminal death domain, this
            protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis
            factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it
            participates in the death signaling initiated by these receptors.
            Interaction of this protein with the receptors unmasks the
            N-terminal effector domain of this protein, which allows it to
            recruit caspase-8, and thereby activate the cysteine protease
            cascade. Knockout studies in mice also suggest the importance of
            this protein in early T cell development. [provided by RefSeq, Jul
            2008].
            
            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 :: X84709.1, BC025733.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301838.5/ ENSP00000301838.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-494               AL575732.1         134-627
            495-1338            BC000334.2         476-1319
            1339-1698           BC000334.2         1323-1682
            1699-1699           AP000879.4         132927-132927
            1700-1708           AI886015.1         15-23               c
FEATURES             Location/Qualifiers
     source          1..1708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.3"
     gene            1..1708
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /note="Fas associated via death domain"
                     /db_xref="GeneID:8772"
                     /db_xref="HGNC:HGNC:3573"
                     /db_xref="MIM:602457"
     exon            1..450
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..791
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /note="Fas-associating protein with death domain;
                     Fas-associating death domain-containing protein; mediator
                     of receptor-induced toxicity; growth-inhibiting gene 3
                     protein; Fas (TNFRSF6)-associated via death domain"
                     /codon_start=1
                     /product="FAS-associated death domain protein"
                     /protein_id="NP_003815.1"
                     /db_xref="CCDS:CCDS8196.1"
                     /db_xref="GeneID:8772"
                     /db_xref="HGNC:HGNC:3573"
                     /db_xref="MIM:602457"
                     /translation="MDPFLVLLHSVSSSLSSSELTELKFLCLGRVGKRKLERVQSGLD
                     LFSMLLEQNDLEPGHTELLRELLASLRRHDLLRRVDDFEAGAAAGAAPGEEDLCAAFN
                     VICDNVGKDWRRLARQLKVSDTKIDSIEDRYPRNLTERVRESLRIWKNTEKENATVAH
                     LVGALRSCQMNLVADLVQEVQQARDLQNRSGAMSPMSWNSDASTSEAS"
     exon            451..1708
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1671..1676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /note="hexamer: ATTAAA"
     polyA_site      1708
                     /gene="FADD"
                     /gene_synonym="GIG3; IMD90; MORT1"
                     /note="major polyA site"
ORIGIN      
        1 gctcttgtcg atttcctgta gtgaatcagg caccggagtg caggttcggg ggtggaatcc
       61 ttgggccgct gggcaagcgg cgagacctgg ccagggccag cgagccgagg acagagggcg
      121 cacggagggc cgggccgcag ccccggccgc ttgcagaccc cgccatggac ccgttcctgg
      181 tgctgctgca ctcggtgtcg tccagcctgt cgagcagcga gctgaccgag ctcaagttcc
      241 tatgcctcgg gcgcgtgggc aagcgcaagc tggagcgcgt gcagagcggc ctagacctct
      301 tctccatgct gctggagcag aacgacctgg agcccgggca caccgagctc ctgcgcgagc
      361 tgctcgcctc cctgcggcgc cacgacctgc tgcggcgcgt cgacgacttc gaggcggggg
      421 cggcggccgg ggccgcgcct ggggaagaag acctgtgtgc agcatttaac gtcatatgtg
      481 ataatgtggg gaaagattgg agaaggctgg ctcgtcagct caaagtctca gacaccaaga
      541 tcgacagcat cgaggacaga tacccccgca acctgacaga gcgtgtgcgg gagtcactga
      601 gaatctggaa gaacacagag aaggagaacg caacagtggc ccacctggtg ggggctctca
      661 ggtcctgcca gatgaacctg gtggctgacc tggtacaaga ggttcagcag gcccgtgacc
      721 tccagaacag gagtggggcc atgtccccga tgtcatggaa ctcagacgca tctacctccg
      781 aagcgtcctg atgggccgct gctttgcgct ggtggaccac aggcatctac acagcctgga
      841 ctttggttct ctccaggaag gtagcccagc actgtgaaga cccagcagga agccaggctg
      901 agtgagccac agaccacctg cttctgaact caagctgcgt ttattaatgc ctctcccgca
      961 ccaggccggg cttgggccct gcacagatat ttccatttct tcctcactat gacactgagc
     1021 aagatcttgt ctccactaaa tgagctcctg cgggagtagt tggaaagttg gaaccgtgtc
     1081 cagcacagaa ggaatctgtg cagatgagca gtcacactgt tactccacag cggaggagac
     1141 cagctcagag gcccaggaat cggagcgaag cagagaggtg gagaactggg atttgaaccc
     1201 ccgccatcct tcaccagagc ccatgctcaa ccactgtggc gttctgctgc ccctgcagtt
     1261 ggcagaaagg atgttttgtc ccatttcctt ggaggccacc gggacagacc tggacactag
     1321 ggtcaggcgg ggtgctgtgg tggggagagg catggctggg gtgggggtgg ggagacctgg
     1381 ttggccgtgg tccagctctt ggcccctgtg tgagttgagt ctcctctctg agactgctaa
     1441 gtaggggcag tgatggttgc caggacgaat tgagataata tctgtgaggt gctgatgagt
     1501 gattgacaca cagcactctc taaatcttcc ttgtgaggat tatgggtcct gcaattctac
     1561 agtttcttac tgttttgtat caaaatcact atctttctga taacagaatt gccaaggcag
     1621 cgggatctcg tatctttaaa aagcagtcct cttattccta aggtaatcct attaaaacac
     1681 agctttacaa cttccatact acaaaaaa
//
