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P25445

- TNR6_HUMAN

UniProt

P25445 - TNR6_HUMAN

Protein

Tumor necrosis factor receptor superfamily member 6

Gene

FAS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 188 (01 Oct 2014)
      Sequence version 1 (01 May 1992)
      Previous versions | rss
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    Functioni

    Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).2 Publications

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. kinase binding Source: BHF-UCL
    3. protein binding Source: UniProtKB
    4. receptor activity Source: UniProtKB
    5. signal transducer activity Source: ProtInc
    6. transmembrane signaling receptor activity Source: InterPro

    GO - Biological processi

    1. activation-induced cell death of T cells Source: Ensembl
    2. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: Reactome
    3. apoptotic process Source: MGI
    4. apoptotic signaling pathway Source: Reactome
    5. B cell mediated immunity Source: Ensembl
    6. cellular response to hyperoxia Source: UniProtKB
    7. cellular response to lithium ion Source: Ensembl
    8. cellular response to mechanical stimulus Source: UniProtKB
    9. extrinsic apoptotic signaling pathway Source: UniProtKB
    10. extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
    11. extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
    12. immunoglobulin production Source: Ensembl
    13. inflammatory cell apoptotic process Source: Ensembl
    14. motor neuron apoptotic process Source: Ensembl
    15. necroptotic signaling pathway Source: BHF-UCL
    16. negative regulation of apoptotic process Source: ProtInc
    17. negative regulation of B cell activation Source: Ensembl
    18. negative thymic T cell selection Source: Ensembl
    19. positive regulation of apoptotic process Source: UniProtKB
    20. positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
    21. positive regulation of protein homooligomerization Source: Ensembl
    22. protein complex assembly Source: ProtInc
    23. protein homooligomerization Source: Ensembl
    24. regulation of apoptotic process Source: UniProtKB
    25. regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Reactome
    26. regulation of lymphocyte differentiation Source: Ensembl
    27. regulation of myeloid cell differentiation Source: Ensembl
    28. renal system process Source: Ensembl
    29. response to glucocorticoid Source: Ensembl
    30. response to toxic substance Source: Ensembl
    31. signal transduction Source: ProtInc
    32. spleen development Source: Ensembl
    33. transformed cell apoptotic process Source: Ensembl

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Apoptosis

    Enzyme and pathway databases

    ReactomeiREACT_900. FasL/ CD95L signaling.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tumor necrosis factor receptor superfamily member 6
    Alternative name(s):
    Apo-1 antigen
    Apoptosis-mediating surface antigen FAS
    FASLG receptor
    CD_antigen: CD95
    Gene namesi
    Name:FAS
    Synonyms:APT1, FAS1, TNFRSF6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:11920. FAS.

    Subcellular locationi

    GO - Cellular componenti

    1. CD95 death-inducing signaling complex Source: UniProtKB
    2. cell surface Source: UniProtKB
    3. cytoplasm Source: HPA
    4. cytosol Source: UniProtKB
    5. death-inducing signaling complex Source: UniProtKB
    6. external side of plasma membrane Source: Ensembl
    7. extracellular vesicular exosome Source: UniProt
    8. integral component of membrane Source: UniProtKB-KW
    9. membrane raft Source: UniProtKB
    10. nucleus Source: HPA
    11. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281T → A in ALPS1A; associated with autoimmune hepatitis type 2. 1 Publication
    VAR_013417
    Natural varianti82 – 821C → R in ALPS1A. 1 Publication
    VAR_013418
    Natural varianti121 – 1211R → W in ALPS1A. 1 Publication
    VAR_013419
    Natural varianti232 – 2321Y → C in ALPS1A; no effect on interaction with FADD. 1 Publication
    VAR_013423
    Natural varianti241 – 2411T → K in ALPS1A. 1 Publication
    VAR_013424
    Natural varianti241 – 2411T → P in ALPS1A. 2 Publications
    VAR_013425
    Natural varianti249 – 2491V → L in ALPS1A. 1 Publication
    VAR_065128
    Natural varianti250 – 2501R → P in ALPS1A. 2 Publications
    VAR_013426
    Natural varianti250 – 2501R → Q in ALPS1A; no effect on interaction with FADD. 1 Publication
    VAR_013427
    Natural varianti253 – 2531G → D in ALPS1A. 1 Publication
    VAR_065129
    Natural varianti253 – 2531G → S in ALPS1A. 1 Publication
    VAR_065130
    Natural varianti257 – 2571A → D in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_013428
    Natural varianti259 – 2591I → R in ALPS1A. 1 Publication
    VAR_065131
    Natural varianti260 – 2601D → G in ALPS1A. 1 Publication
    VAR_013429
    Natural varianti260 – 2601D → V in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 3 Publications
    Corresponds to variant rs28929498 [ dbSNP | Ensembl ].
    VAR_013431
    Natural varianti260 – 2601D → Y in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_013430
    Natural varianti262 – 2621I → S in ALPS1A. 1 Publication
    VAR_058910
    Natural varianti270 – 2701T → I in ALPS1A. 2 Publications
    VAR_013433
    Natural varianti270 – 2701T → K in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_065132
    Natural varianti272 – 2721E → G in ALPS1A. 2 Publications
    VAR_013434
    Natural varianti272 – 2721E → K in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 2 Publications
    VAR_013435
    Natural varianti310 – 3101I → S in ALPS1A. 1 Publication
    VAR_013438

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi250 – 2501R → E: Strongly decreased interaction with FADD. 1 Publication
    Mutagenesisi261 – 2611E → K: Loss of interaction with FADD. 1 Publication
    Mutagenesisi283 – 2831Q → K: Loss of interaction with FADD. 1 Publication
    Mutagenesisi287 – 2871K → D: Strongly decreased interaction with FADD. 1 Publication
    Mutagenesisi291 – 2911Y → D: Decreased interaction with FADD. 1 Publication
    Mutagenesisi313 – 3131I → D: Constitutive activation. Promotes apoptosis, both in the presence and in the absence of stimulation by a ligand. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi601859. phenotype.
    Orphaneti3261. Autoimmune lymphoproliferative syndrome.
    85408. Juvenile rheumatoid factor-negative polyarthritis.
    85410. Oligoarticular juvenile arthritis.
    PharmGKBiPA36613.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 335310Tumor necrosis factor receptor superfamily member 6PRO_0000034563Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi28 – 281O-linked (GalNAc...)1 Publication
    Disulfide bondi59 ↔ 73PROSITE-ProRule annotation
    Disulfide bondi63 ↔ 82PROSITE-ProRule annotation
    Disulfide bondi85 ↔ 101PROSITE-ProRule annotation
    Disulfide bondi104 ↔ 119PROSITE-ProRule annotation
    Disulfide bondi107 ↔ 127PROSITE-ProRule annotation
    Glycosylationi118 – 1181N-linked (GlcNAc...)1 Publication
    Disulfide bondi129 ↔ 143PROSITE-ProRule annotation
    Glycosylationi136 – 1361N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi146 ↔ 157PROSITE-ProRule annotation
    Disulfide bondi149 ↔ 165PROSITE-ProRule annotation
    Modified residuei209 – 2091Phosphoserine1 Publication

    Post-translational modificationi

    N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP25445.
    PaxDbiP25445.
    PRIDEiP25445.

    PTM databases

    PhosphoSiteiP25445.

    Miscellaneous databases

    PMAP-CutDBP25445.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.1 Publication

    Gene expression databases

    ArrayExpressiP25445.
    BgeeiP25445.
    CleanExiHS_FAS.
    GenevestigatoriP25445.

    Organism-specific databases

    HPAiHPA027444.

    Interactioni

    Subunit structurei

    Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD By similarity. Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Interacts with FADD.By similarity6 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-494743,EBI-494743
    CALM3P621584EBI-494743,EBI-397435
    CASP8Q1479014EBI-494743,EBI-78060
    CAV1Q031353EBI-494743,EBI-603614
    DAXXQ9UER73EBI-494743,EBI-77321
    FADDQ1315833EBI-494743,EBI-494804
    FASLGP480234EBI-494743,EBI-495538
    MAP3K5Q996832EBI-494743,EBI-476263
    Pdcd6P128152EBI-494743,EBI-309164From a different organism.
    PMLP295904EBI-494743,EBI-295890
    PML-RARQ151566EBI-494743,EBI-867256
    PTPN13Q129233EBI-494743,EBI-355227
    SRCP129312EBI-494743,EBI-621482

    Protein-protein interaction databases

    BioGridi106851. 59 interactions.
    DIPiDIP-924N.
    IntActiP25445. 41 interactions.
    MINTiMINT-146256.

    Structurei

    Secondary structure

    1
    335
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi67 – 715
    Beta strandi75 – 773
    Beta strandi82 – 843
    Turni87 – 893
    Helixi109 – 1113
    Beta strandi113 – 1175
    Beta strandi126 – 1294
    Beta strandi137 – 1393
    Helixi232 – 24211
    Turni251 – 2533
    Helixi256 – 26510
    Helixi270 – 28213
    Helixi287 – 31933
    Helixi327 – 3348

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1BZImodel-A1-335[»]
    1DDFNMR-A218-335[»]
    3EWTX-ray2.40E230-254[»]
    3EZQX-ray2.73A/C/E/G/I/K/M/O223-335[»]
    3THMX-ray2.10F17-172[»]
    3TJEX-ray1.93F17-172[»]
    ProteinModelPortaliP25445.
    SMRiP25445. Positions 52-163, 218-335.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP25445.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 173148ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini191 – 335145CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei174 – 19017HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati47 – 8337TNFR-Cys 1Add
    BLAST
    Repeati84 – 12744TNFR-Cys 2Add
    BLAST
    Repeati128 – 16639TNFR-Cys 3Add
    BLAST
    Domaini230 – 31485DeathPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni212 – 317106Interaction with HIPK3By similarityAdd
    BLAST

    Domaini

    Contains a death domain involved in the binding of FADD, and maybe to other cytosolic adapter proteins.

    Sequence similaritiesi

    Contains 1 death domain.PROSITE-ProRule annotation
    Contains 3 TNFR-Cys repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45364.
    HOVERGENiHBG004091.
    KOiK04390.
    OMAiCEHCNPC.
    OrthoDBiEOG7DVDC8.
    PhylomeDBiP25445.
    TreeFamiTF333916.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    InterProiIPR011029. DEATH-like_dom.
    IPR000488. Death_domain.
    IPR008063. Fas_rcpt.
    IPR001368. TNFR/NGFR_Cys_rich_reg.
    [Graphical view]
    PfamiPF00531. Death. 1 hit.
    PF00020. TNFR_c6. 2 hits.
    [Graphical view]
    PRINTSiPR01680. TNFACTORR6.
    SMARTiSM00005. DEATH. 1 hit.
    SM00208. TNFR. 3 hits.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    PROSITEiPS50017. DEATH_DOMAIN. 1 hit.
    PS00652. TNFR_NGFR_1. 2 hits.
    PS50050. TNFR_NGFR_2. 2 hits.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P25445-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT VTTVETQNLE    50
    GLHHDGQFCH KPCPPGERKA RDCTVNGDEP DCVPCQEGKE YTDKAHFSSK 100
    CRRCRLCDEG HGLEVEINCT RTQNTKCRCK PNFFCNSTVC EHCDPCTKCE 150
    HGIIKECTLT SNTKCKEEGS RSNLGWLCLL LLPIPLIVWV KRKEVQKTCR 200
    KHRKENQGSH ESPTLNPETV AINLSDVDLS KYITTIAGVM TLSQVKGFVR 250
    KNGVNEAKID EIKNDNVQDT AEQKVQLLRN WHQLHGKKEA YDTLIKDLKK 300
    ANLCTLAEKI QTIILKDITS DSENSNFRNE IQSLV 335
    Length:335
    Mass (Da):37,732
    Last modified:May 1, 1992 - v1
    Checksum:i0139942535111410
    GO
    Isoform 2 (identifier: P25445-2) [UniParc]FASTAAdd to Basket

    Also known as: del2, D

    The sequence of this isoform differs from the canonical sequence as follows:
         66-103: GERKARDCTV...KAHFSSKCRR → DVNMESSRNA...GFVFFFCQFH
         104-335: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:103
    Mass (Da):11,435
    Checksum:iF0DEA7F598AFBB00
    GO
    Isoform 3 (identifier: P25445-3) [UniParc]FASTAAdd to Basket

    Also known as: del3, E

    The sequence of this isoform differs from the canonical sequence as follows:
         66-86: GERKARDCTVNGDEPDCVPCQ → DVNMESSRNAHSPATPSAKRK
         87-335: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:86
    Mass (Da):9,390
    Checksum:iD55B05CA4C2D1D49
    GO
    Isoform 4 (identifier: P25445-4) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         112-149: GLEVEINCTR...CEHCDPCTKC → DVNMESSRNA...GFVFFFCQFH
         150-335: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:149
    Mass (Da):16,648
    Checksum:i5061E69484678FC0
    GO
    Isoform 5 (identifier: P25445-5) [UniParc]FASTAAdd to Basket

    Also known as: C

    The sequence of this isoform differs from the canonical sequence as follows:
         112-132: GLEVEINCTRTQNTKCRCKPN → DVNMESSRNAHSPATPSAKRK
         133-335: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:132
    Mass (Da):14,602
    Checksum:iB10B6F86DE5E8690
    GO
    Isoform 6 (identifier: P25445-6) [UniParc]FASTAAdd to Basket

    Also known as: TMdel, A

    The sequence of this isoform differs from the canonical sequence as follows:
         169-189: Missing.

    Show »
    Length:314
    Mass (Da):35,386
    Checksum:i83F8FAC62DB8B457
    GO
    Isoform 7 (identifier: P25445-7) [UniParc]FASTAAdd to Basket

    Also known as: FasExo8Del

    The sequence of this isoform differs from the canonical sequence as follows:
         218-220: ETV → MLT
         221-335: Missing.

    Note: Dominant negative isoform, resistant to Fas-mediated apoptosis.

    Show »
    Length:220
    Mass (Da):24,781
    Checksum:iF4CD01DBF0649B39
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti224 – 2241L → F in AAR08906. 1 PublicationCurated
    Sequence conflicti242 – 2421L → P in CAR92543. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161A → T.1 Publication
    Corresponds to variant rs3218619 [ dbSNP | Ensembl ].
    VAR_020008
    Natural varianti25 – 251A → T in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013416
    Natural varianti28 – 281T → A in ALPS1A; associated with autoimmune hepatitis type 2. 1 Publication
    VAR_013417
    Natural varianti82 – 821C → R in ALPS1A. 1 Publication
    VAR_013418
    Natural varianti118 – 1181N → S in squamous cell carcinoma; burn-scar related; somatic mutation. 1 Publication
    VAR_018321
    Natural varianti121 – 1211R → W in ALPS1A. 1 Publication
    VAR_013419
    Natural varianti122 – 1221T → I.1 Publication
    Corresponds to variant rs3218614 [ dbSNP | Ensembl ].
    VAR_020009
    Natural varianti178 – 1781C → R in squamous cell carcinoma; burn-scar related; somatic mutation. 1 Publication
    VAR_018322
    Natural varianti180 – 1801L → F in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013420
    Natural varianti183 – 1831P → L in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013421
    Natural varianti184 – 1841I → V.
    Corresponds to variant rs28362322 [ dbSNP | Ensembl ].
    VAR_052347
    Natural varianti198 – 1981T → I in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013422
    Natural varianti232 – 2321Y → C in ALPS1A; no effect on interaction with FADD. 1 Publication
    VAR_013423
    Natural varianti241 – 2411T → K in ALPS1A. 1 Publication
    VAR_013424
    Natural varianti241 – 2411T → P in ALPS1A. 2 Publications
    VAR_013425
    Natural varianti249 – 2491V → L in ALPS1A. 1 Publication
    VAR_065128
    Natural varianti250 – 2501R → P in ALPS1A. 2 Publications
    VAR_013426
    Natural varianti250 – 2501R → Q in ALPS1A; no effect on interaction with FADD. 1 Publication
    VAR_013427
    Natural varianti253 – 2531G → D in ALPS1A. 1 Publication
    VAR_065129
    Natural varianti253 – 2531G → S in ALPS1A. 1 Publication
    VAR_065130
    Natural varianti255 – 2551N → D in squamous cell carcinoma; burn-scar related; somatic mutation. 1 Publication
    VAR_018323
    Natural varianti257 – 2571A → D in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_013428
    Natural varianti259 – 2591I → R in ALPS1A. 1 Publication
    VAR_065131
    Natural varianti260 – 2601D → G in ALPS1A. 1 Publication
    VAR_013429
    Natural varianti260 – 2601D → V in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 3 Publications
    Corresponds to variant rs28929498 [ dbSNP | Ensembl ].
    VAR_013431
    Natural varianti260 – 2601D → Y in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_013430
    Natural varianti262 – 2621I → S in ALPS1A. 1 Publication
    VAR_058910
    Natural varianti264 – 2641N → K in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013432
    Natural varianti270 – 2701T → I in ALPS1A. 2 Publications
    VAR_013433
    Natural varianti270 – 2701T → K in ALPS1A; loss of interaction with FADD. 1 Publication
    VAR_065132
    Natural varianti272 – 2721E → G in ALPS1A. 2 Publications
    VAR_013434
    Natural varianti272 – 2721E → K in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 2 Publications
    VAR_013435
    Natural varianti278 – 2781L → F in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013436
    Natural varianti299 – 2991K → N in non-Hodgkin lymphoma; somatic mutation. 1 Publication
    VAR_013437
    Natural varianti305 – 3051T → I.1 Publication
    Corresponds to variant rs3218611 [ dbSNP | Ensembl ].
    VAR_020942
    Natural varianti310 – 3101I → S in ALPS1A. 1 Publication
    VAR_013438

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei66 – 10338GERKA…SKCRR → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 2. 2 PublicationsVSP_006481Add
    BLAST
    Alternative sequencei66 – 8621GERKA…CVPCQ → DVNMESSRNAHSPATPSAKR K in isoform 3. 2 PublicationsVSP_006483Add
    BLAST
    Alternative sequencei87 – 335249Missing in isoform 3. 2 PublicationsVSP_006484Add
    BLAST
    Alternative sequencei104 – 335232Missing in isoform 2. 2 PublicationsVSP_006482Add
    BLAST
    Alternative sequencei112 – 14938GLEVE…PCTKC → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 4. 2 PublicationsVSP_006485Add
    BLAST
    Alternative sequencei112 – 13221GLEVE…RCKPN → DVNMESSRNAHSPATPSAKR K in isoform 5. 2 PublicationsVSP_006487Add
    BLAST
    Alternative sequencei133 – 335203Missing in isoform 5. 2 PublicationsVSP_006488Add
    BLAST
    Alternative sequencei150 – 335186Missing in isoform 4. 2 PublicationsVSP_006486Add
    BLAST
    Alternative sequencei169 – 18921Missing in isoform 6. 2 PublicationsVSP_006489Add
    BLAST
    Alternative sequencei218 – 2203ETV → MLT in isoform 7. 1 PublicationVSP_045235
    Alternative sequencei221 – 335115Missing in isoform 7. 1 PublicationVSP_045236Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M67454 mRNA. Translation: AAA63174.1.
    X63717 mRNA. Translation: CAA45250.1.
    X83490 mRNA. No translation available.
    X83491 mRNA. No translation available.
    X83492 mRNA. No translation available.
    X83493 mRNA. No translation available.
    Z47993 mRNA. Translation: CAA88031.1.
    Z47994 mRNA. Translation: CAA88032.1.
    Z47995 mRNA. Translation: CAA88033.1.
    Z66556 mRNA. No translation available.
    Z70519 mRNA. Translation: CAA94430.1.
    Z70520 mRNA. Translation: CAA94431.1.
    AY495076 mRNA. Translation: AAS76663.1.
    X89101 mRNA. Translation: CAA61473.1.
    FM246458 mRNA. Translation: CAR92543.1.
    AK290978 mRNA. Translation: BAF83667.1.
    AY450925 Genomic DNA. Translation: AAR08906.1.
    AL157394 Genomic DNA. Translation: CAI13870.1.
    AL157394 Genomic DNA. Translation: CAI13871.1.
    AL157394 Genomic DNA. Translation: CAI13872.1.
    CH471066 Genomic DNA. Translation: EAW50151.1.
    BC012479 mRNA. Translation: AAH12479.1.
    CCDSiCCDS7393.1. [P25445-1]
    CCDS7394.1. [P25445-6]
    CCDS7395.1. [P25445-7]
    PIRiA40036.
    I37383.
    I37384.
    S58662.
    RefSeqiNP_000034.1. NM_000043.4. [P25445-1]
    NP_690610.1. NM_152871.2. [P25445-6]
    NP_690611.1. NM_152872.2. [P25445-7]
    UniGeneiHs.244139.
    Hs.667309.

    Genome annotation databases

    EnsembliENST00000355279; ENSP00000347426; ENSG00000026103. [P25445-7]
    ENST00000355740; ENSP00000347979; ENSG00000026103. [P25445-1]
    ENST00000357339; ENSP00000349896; ENSG00000026103. [P25445-6]
    ENST00000479522; ENSP00000424113; ENSG00000026103. [P25445-3]
    ENST00000484444; ENSP00000420975; ENSG00000026103. [P25445-2]
    ENST00000488877; ENSP00000425159; ENSG00000026103. [P25445-4]
    ENST00000492756; ENSP00000422453; ENSG00000026103. [P25445-5]
    ENST00000494410; ENSP00000423755; ENSG00000026103. [P25445-4]
    GeneIDi355.
    KEGGihsa:355.
    UCSCiuc001kfr.3. human. [P25445-1]
    uc001kfs.3. human.
    uc001kft.3. human. [P25445-6]
    uc001kfw.3. human. [P25445-4]

    Polymorphism databases

    DMDMi119833.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)

    Mutations in TNFRSF6 causing ALPS type Ia

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M67454 mRNA. Translation: AAA63174.1 .
    X63717 mRNA. Translation: CAA45250.1 .
    X83490 mRNA. No translation available.
    X83491 mRNA. No translation available.
    X83492 mRNA. No translation available.
    X83493 mRNA. No translation available.
    Z47993 mRNA. Translation: CAA88031.1 .
    Z47994 mRNA. Translation: CAA88032.1 .
    Z47995 mRNA. Translation: CAA88033.1 .
    Z66556 mRNA. No translation available.
    Z70519 mRNA. Translation: CAA94430.1 .
    Z70520 mRNA. Translation: CAA94431.1 .
    AY495076 mRNA. Translation: AAS76663.1 .
    X89101 mRNA. Translation: CAA61473.1 .
    FM246458 mRNA. Translation: CAR92543.1 .
    AK290978 mRNA. Translation: BAF83667.1 .
    AY450925 Genomic DNA. Translation: AAR08906.1 .
    AL157394 Genomic DNA. Translation: CAI13870.1 .
    AL157394 Genomic DNA. Translation: CAI13871.1 .
    AL157394 Genomic DNA. Translation: CAI13872.1 .
    CH471066 Genomic DNA. Translation: EAW50151.1 .
    BC012479 mRNA. Translation: AAH12479.1 .
    CCDSi CCDS7393.1. [P25445-1 ]
    CCDS7394.1. [P25445-6 ]
    CCDS7395.1. [P25445-7 ]
    PIRi A40036.
    I37383.
    I37384.
    S58662.
    RefSeqi NP_000034.1. NM_000043.4. [P25445-1 ]
    NP_690610.1. NM_152871.2. [P25445-6 ]
    NP_690611.1. NM_152872.2. [P25445-7 ]
    UniGenei Hs.244139.
    Hs.667309.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1BZI model - A 1-335 [» ]
    1DDF NMR - A 218-335 [» ]
    3EWT X-ray 2.40 E 230-254 [» ]
    3EZQ X-ray 2.73 A/C/E/G/I/K/M/O 223-335 [» ]
    3THM X-ray 2.10 F 17-172 [» ]
    3TJE X-ray 1.93 F 17-172 [» ]
    ProteinModelPortali P25445.
    SMRi P25445. Positions 52-163, 218-335.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106851. 59 interactions.
    DIPi DIP-924N.
    IntActi P25445. 41 interactions.
    MINTi MINT-146256.

    Chemistry

    GuidetoPHARMACOLOGYi 1875.

    PTM databases

    PhosphoSitei P25445.

    Polymorphism databases

    DMDMi 119833.

    Proteomic databases

    MaxQBi P25445.
    PaxDbi P25445.
    PRIDEi P25445.

    Protocols and materials databases

    DNASUi 355.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355279 ; ENSP00000347426 ; ENSG00000026103 . [P25445-7 ]
    ENST00000355740 ; ENSP00000347979 ; ENSG00000026103 . [P25445-1 ]
    ENST00000357339 ; ENSP00000349896 ; ENSG00000026103 . [P25445-6 ]
    ENST00000479522 ; ENSP00000424113 ; ENSG00000026103 . [P25445-3 ]
    ENST00000484444 ; ENSP00000420975 ; ENSG00000026103 . [P25445-2 ]
    ENST00000488877 ; ENSP00000425159 ; ENSG00000026103 . [P25445-4 ]
    ENST00000492756 ; ENSP00000422453 ; ENSG00000026103 . [P25445-5 ]
    ENST00000494410 ; ENSP00000423755 ; ENSG00000026103 . [P25445-4 ]
    GeneIDi 355.
    KEGGi hsa:355.
    UCSCi uc001kfr.3. human. [P25445-1 ]
    uc001kfs.3. human.
    uc001kft.3. human. [P25445-6 ]
    uc001kfw.3. human. [P25445-4 ]

    Organism-specific databases

    CTDi 355.
    GeneCardsi GC10P090741.
    GeneReviewsi FAS.
    HGNCi HGNC:11920. FAS.
    HPAi HPA027444.
    MIMi 134637. gene.
    601859. phenotype.
    neXtProti NX_P25445.
    Orphaneti 3261. Autoimmune lymphoproliferative syndrome.
    85408. Juvenile rheumatoid factor-negative polyarthritis.
    85410. Oligoarticular juvenile arthritis.
    PharmGKBi PA36613.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45364.
    HOVERGENi HBG004091.
    KOi K04390.
    OMAi CEHCNPC.
    OrthoDBi EOG7DVDC8.
    PhylomeDBi P25445.
    TreeFami TF333916.

    Enzyme and pathway databases

    Reactomei REACT_900. FasL/ CD95L signaling.

    Miscellaneous databases

    EvolutionaryTracei P25445.
    GeneWikii Fas_receptor.
    GenomeRNAii 355.
    NextBioi 1471.
    PMAP-CutDB P25445.
    PROi P25445.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P25445.
    Bgeei P25445.
    CleanExi HS_FAS.
    Genevestigatori P25445.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    InterProi IPR011029. DEATH-like_dom.
    IPR000488. Death_domain.
    IPR008063. Fas_rcpt.
    IPR001368. TNFR/NGFR_Cys_rich_reg.
    [Graphical view ]
    Pfami PF00531. Death. 1 hit.
    PF00020. TNFR_c6. 2 hits.
    [Graphical view ]
    PRINTSi PR01680. TNFACTORR6.
    SMARTi SM00005. DEATH. 1 hit.
    SM00208. TNFR. 3 hits.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    PROSITEi PS50017. DEATH_DOMAIN. 1 hit.
    PS00652. TNFR_NGFR_1. 2 hits.
    PS50050. TNFR_NGFR_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis."
      Itoh N., Yonehara S., Ishii A., Yonehara M., Mizushima S., Sameshima M., Hase A., Seto Y., Nagata S.
      Cell 66:233-243(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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."
      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.
      J. Biol. Chem. 267:10709-10715(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 226-240; 269-291 AND 321-335.
    3. "Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation."
      Liu C., Cheng J., Mountz J.D.
      Biochem. J. 310:957-963(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 6), TISSUE SPECIFICITY.
    4. "Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing."
      Cascino I., Fiucci G., Papoff G., Ruberti G.
      J. Immunol. 154:2706-2713(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6), FUNCTION.
    5. "Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis."
      Cascino I., Papoff G., De Maria R., Testi R., Ruberti G.
      J. Immunol. 156:13-17(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
    6. "An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro."
      Papoff G., Cascino I., Eramo A., Starace G., Lynch D.H., Ruberti G.
      J. Immunol. 156:4622-4630(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
    7. "Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation."
      Del-Rey M.J., Manzanares J., Bosque A., Aguilo J.I., Gomez-Rial J., Roldan E., Serrano A., Anel A., Paz-Artal E., Allende L.M.
      Immunobiology 212:73-83(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALPS1A SER-262.
    8. Schaetzlein C.E., Poehlmann R., Philippsen P., Eibel H.
      Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
      Tissue: Peripheral blood lymphocyte.
    9. De La Calle-Martin O.
      Submitted (OCT-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    10. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    11. NIEHS SNPs program
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-16; ILE-122 AND ILE-305.
    12. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    13. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    14. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Urinary bladder.
    15. "RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death."
      Stanger B.Z., Leder P., Lee T.-H., Kim E., Seed B.
      Cell 81:513-523(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RIPK1.
    16. "F1Aalpha, a death receptor-binding protein homologous to the Caenorhabditis elegans sex-determining protein, FEM-1, is a caspase substrate that mediates apoptosis."
      Chan S.-L., Tan K.-O., Zhang L., Yee K.S.Y., Ronca F., Chan M.-Y., Yu V.C.
      J. Biol. Chem. 274:32461-32468(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FEM1B.
    17. "LFG: an anti-apoptotic gene that provides protection from fas-mediated cell death."
      Somia N.V., Schmitt M.J., Vetter D.E., Van Antwerp D., Heinemann S.F., Verma I.M.
      Proc. Natl. Acad. Sci. U.S.A. 96:12667-12672(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FAIM2.
    18. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    19. "A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway."
      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.
      J. Biol. Chem. 279:52106-52116(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BRE.
    20. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    21. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    22. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118.
      Tissue: Liver.
    23. Cited for: INTERACTION WITH FADD.
    24. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    25. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    26. "Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
      Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.
      Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT THR-28, STRUCTURE OF CARBOHYDRATES, IDENTIFICATION BY MASS SPECTROMETRY.
    27. "NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain."
      Huang B., Eberstadt M., Olejniczak E.T., Meadows R.P., Fesik S.W.
      Nature 384:638-641(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 218-335.
    28. "The Fas-FADD death domain complex structure unravels signalling by receptor clustering."
      Scott F.L., Stec B., Pop C., Dobaczewska M.K., Lee J.J., Monosov E., Robinson H., Salvesen G.S., Schwarzenbacher R., Riedl S.J.
      Nature 457:1019-1022(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.73 ANGSTROMS) OF 223-335 IN COMPLEX WITH FADD, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF TYR-291 AND ILE-313.
    29. "Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome."
      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.
      Cell 81:935-946(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALPS1A PRO-241.
    30. "Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity."
      Drappa J., Vaishnaw A.K., Sullivan K.E., Chu J.-L., Elkon K.B.
      N. Engl. J. Med. 335:1643-1649(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALPS1A TYR-260.
    31. "Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis."
      Bettinardi A., Brugnoni D., Quiros-Roldan E., Malagoli A., La Grutta S., Correra A., Notarangelo L.D.
      Blood 89:902-909(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALPS1A TRP-121 AND CYS-232.
    32. "Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis."
      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.
      Blood 89:1341-1348(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALPS1A ASP-257 AND SER-310.
    33. "Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis."
      Pensati L., Costanzo A., Ianni A., Accapezzato D., Iorio R., Natoli G., Nisini R., Almerighi C., Balsano C., Vajro P., Vegnente A., Levrero M.
      Gastroenterology 113:1384-1389(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALPS1A ALA-28.
    34. "Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity."
      Groenbaek K., Straten P.T., Ralfkiaer E., Ahrenkiel V., Andersen M.K., Hansen N.E., Zeuthen J., Hou-Jensen K., Guldberg P.
      Blood 92:3018-3024(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198; VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299.
    35. "The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis."
      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.
      J. Pediatr. 133:629-633(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALPS1A VAL-260.
    36. Cited for: VARIANTS ALPS1A LYS-241 AND GLN-250.
    37. "Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations."
      Rieux-Laucat F., Blachere S., Danielan S., De Villartay J.P., Oleastro M., Solary E., Bader-Meunier B., Arkwright P., Pondare C., Bernaudin F., Chapel H., Nielsen S., Berrah M., Fischer A., Le Deist F.
      Blood 94:2575-2582(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALPS1A LEU-249; PRO-250; ASP-253; SER-253; ARG-259; LYS-270 AND LYS-272.
    38. "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."
      Peters A.M., Kohfink B., Martin H., Griesinger F., Wormann B., Gahr M., Roesler J.
      Exp. Hematol. 27:868-874(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALPS1A GLY-272.
    39. "The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations."
      Vaishnaw A.K., Orlinick J.R., Chu J.-L., Krammer P.H., Chao M.V., Elkon K.B.
      J. Clin. Invest. 103:355-363(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270.
    40. "Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar."
      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.
      J. Invest. Dermatol. 114:122-126(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255.
    41. "The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis."
      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.
      Blood 98:194-200(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272.
    42. "The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations."
      Wang L., Yang J.K., Kabaleeswaran V., Rice A.J., Cruz A.C., Park A.Y., Yin Q., Damko E., Jang S.B., Raunser S., Robinson C.V., Siegel R.M., Walz T., Wu H.
      Nat. Struct. Mol. Biol. 17:1324-1329(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS ALPS1A CYS-232; GLN-250; ASP-257; TYR-260; VAL-260; LYS-270 AND LYS-272, MUTAGENESIS OF ARG-250; GLU-261; GLN-283 AND LYS-287.

    Entry informationi

    Entry nameiTNR6_HUMAN
    AccessioniPrimary (citable) accession number: P25445
    Secondary accession number(s): A9UJX4
    , B6VNV4, Q14292, Q14293, Q14294, Q14295, Q16652, Q5T9P1, Q5T9P2, Q5T9P3, Q6SSE9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 1992
    Last sequence update: May 1, 1992
    Last modified: October 1, 2014
    This is version 188 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3