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P25445

- TNR6_HUMAN

UniProt

P25445 - TNR6_HUMAN

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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

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. receptor activity Source: UniProtKB
  4. signal transducer activity Source: ProtInc
  5. 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. circadian rhythm Source: Ensembl
  10. extrinsic apoptotic signaling pathway Source: UniProtKB
  11. extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
  12. extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  13. immunoglobulin production Source: Ensembl
  14. inflammatory cell apoptotic process Source: Ensembl
  15. motor neuron apoptotic process Source: Ensembl
  16. necroptotic signaling pathway Source: BHF-UCL
  17. negative regulation of apoptotic process Source: ProtInc
  18. negative regulation of B cell activation Source: Ensembl
  19. negative thymic T cell selection Source: Ensembl
  20. positive regulation of apoptotic process Source: UniProtKB
  21. positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
  22. positive regulation of protein homooligomerization Source: Ensembl
  23. protein complex assembly Source: ProtInc
  24. protein homooligomerization Source: Ensembl
  25. regulation of apoptotic process Source: UniProtKB
  26. regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Reactome
  27. regulation of lymphocyte differentiation Source: Ensembl
  28. regulation of myeloid cell differentiation Source: Ensembl
  29. renal system process Source: Ensembl
  30. response to glucocorticoid Source: Ensembl
  31. response to toxic substance Source: Ensembl
  32. signal transduction Source: ProtInc
  33. spleen development Source: Ensembl
  34. transformed cell apoptotic process Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP25445.
CleanExiHS_FAS.
ExpressionAtlasiP25445. baseline and differential.
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. 100 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.
GeneTreeiENSGT00730000111280.
HOVERGENiHBG004091.
InParanoidiP25445.
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

        10         20         30         40         50
MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT VTTVETQNLE
60 70 80 90 100
GLHHDGQFCH KPCPPGERKA RDCTVNGDEP DCVPCQEGKE YTDKAHFSSK
110 120 130 140 150
CRRCRLCDEG HGLEVEINCT RTQNTKCRCK PNFFCNSTVC EHCDPCTKCE
160 170 180 190 200
HGIIKECTLT SNTKCKEEGS RSNLGWLCLL LLPIPLIVWV KRKEVQKTCR
210 220 230 240 250
KHRKENQGSH ESPTLNPETV AINLSDVDLS KYITTIAGVM TLSQVKGFVR
260 270 280 290 300
KNGVNEAKID EIKNDNVQDT AEQKVQLLRN WHQLHGKKEA YDTLIKDLKK
310 320 330
ANLCTLAEKI QTIILKDITS DSENSNFRNE IQSLV
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. 100 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.
GeneTreei ENSGT00730000111280.
HOVERGENi HBG004091.
InParanoidi P25445.
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

Bgeei P25445.
CleanExi HS_FAS.
ExpressionAtlasi P25445. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 189 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