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Protein

Tumor necrosis factor receptor superfamily member 6

Gene

FAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • identical protein binding Source: IntAct
  • kinase binding Source: BHF-UCL
  • receptor activity Source: UniProtKB
  • signal transducer activity Source: ProtInc
  • tumor necrosis factor-activated receptor activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

ReactomeiR-HSA-6803211. TP53 Regulates Transcription of Death Receptors and Ligands.
R-HSA-75157. FasL/ CD95L signaling.
SIGNORiP25445.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:11920. FAS.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 173148ExtracellularSequence analysisAdd
BLAST
Transmembranei174 – 19017HelicalSequence analysisAdd
BLAST
Topological domaini191 – 335145CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • apical dendrite Source: Ensembl
  • apical plasma membrane Source: Ensembl
  • CD95 death-inducing signaling complex Source: UniProtKB
  • cell surface Source: UniProtKB
  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • death-inducing signaling complex Source: UniProtKB
  • external side of plasma membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: Ensembl
  • integral component of plasma membrane Source: GO_Central
  • membrane raft Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • neuron projection Source: GO_Central
  • nucleus Source: HPA
  • perinuclear region of cytoplasm Source: Ensembl
  • plasma membrane Source: UniProtKB
  • sarcolemma Source: Ensembl
  • secretory granule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Autoimmune lymphoproliferative syndrome 1A (ALPS1A)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601859
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
Corresponds to variant rs121913078 [ dbSNP | Ensembl ].
VAR_013419
Natural varianti232 – 2321Y → C in ALPS1A; no effect on interaction with FADD. 2 Publications
Corresponds to variant rs121913079 [ dbSNP | Ensembl ].
VAR_013423
Natural varianti241 – 2411T → K in ALPS1A. 1 Publication
Corresponds to variant rs201072885 [ dbSNP | Ensembl ].
VAR_013424
Natural varianti241 – 2411T → P in ALPS1A. 2 Publications
Corresponds to variant rs121913076 [ dbSNP | Ensembl ].
VAR_013425
Natural varianti249 – 2491V → L in ALPS1A. 1 Publication
VAR_065128
Natural varianti250 – 2501R → P in ALPS1A. 2 Publications
Corresponds to variant rs121913080 [ dbSNP | Ensembl ].
VAR_013426
Natural varianti250 – 2501R → Q in ALPS1A; no effect on interaction with FADD. 2 Publications
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. 2 Publications
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. 4 Publications
Corresponds to variant rs28929498 [ dbSNP | Ensembl ].
VAR_013431
Natural varianti260 – 2601D → Y in ALPS1A; loss of interaction with FADD. 2 Publications
Corresponds to variant rs121913086 [ dbSNP | Ensembl ].
VAR_013430
Natural varianti262 – 2621I → S in ALPS1A. 1 Publication
VAR_058910
Natural varianti270 – 2701T → I in ALPS1A. 2 Publications
Corresponds to variant rs121913081 [ dbSNP | Ensembl ].
VAR_013433
Natural varianti270 – 2701T → K in ALPS1A; loss of interaction with FADD. 2 Publications
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. 3 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

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

Polymorphism and mutation databases

BioMutaiFAS.
DMDMi119833.

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 – 2091PhosphoserineCombined sources
Modified residuei214 – 2141PhosphothreonineBy similarity
Modified residuei225 – 2251PhosphoserineCombined sources

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

EPDiP25445.
MaxQBiP25445.
PaxDbiP25445.
PeptideAtlasiP25445.
PRIDEiP25445.
TopDownProteomicsiP25445-7. [P25445-7]

PTM databases

iPTMnetiP25445.
PhosphoSiteiP25445.
SwissPalmiP25445.
UniCarbKBiP25445.

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

BgeeiENSG00000026103.
CleanExiHS_FAS.
ExpressionAtlasiP25445. baseline and differential.
GenevisibleiP25445. HS.

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. Interacts directly (via DED domain) with NOL3 (via CARD domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity).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

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • kinase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi106851. 101 interactions.
DIPiDIP-924N.
IntActiP25445. 48 interactions.
MINTiMINT-146256.
STRINGi9606.ENSP00000347979.

Structurei

Secondary structure

1
335
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi67 – 715Combined sources
Beta strandi75 – 773Combined sources
Beta strandi82 – 843Combined sources
Turni87 – 893Combined sources
Helixi109 – 1113Combined sources
Beta strandi113 – 1175Combined sources
Beta strandi126 – 1294Combined sources
Beta strandi137 – 1393Combined sources
Helixi174 – 1818Combined sources
Helixi184 – 19310Combined sources
Helixi232 – 24211Combined sources
Turni251 – 2533Combined sources
Helixi256 – 26510Combined sources
Helixi270 – 28213Combined sources
Helixi287 – 31933Combined sources
Helixi327 – 3348Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BZImodel-A1-335[»]
1DDFNMR-A218-335[»]
2NA7NMR-A/B/C171-198[»]
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.

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

eggNOGiENOG410J23A. Eukaryota.
ENOG4112ADB. LUCA.
GeneTreeiENSGT00730000111280.
HOGENOMiHOG000139681.
HOVERGENiHBG004091.
InParanoidiP25445.
KOiK04390.
OMAiCTTCEHG.
OrthoDBiEOG091G0DU6.
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]
PANTHERiPTHR23097:SF114. PTHR23097:SF114. 1 hit.
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. AlignAdd to basket

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 (Ref. 11) Curated
Sequence conflicti242 – 2421L → P in CAR92543 (Ref. 9) Curated

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
Corresponds to variant rs606231364 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121913083 [ dbSNP | Ensembl ].
VAR_018321
Natural varianti121 – 1211R → W in ALPS1A. 1 Publication
Corresponds to variant rs121913078 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121913084 [ dbSNP | Ensembl ].
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
Corresponds to variant rs758835365 [ dbSNP | Ensembl ].
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. 2 Publications
Corresponds to variant rs121913079 [ dbSNP | Ensembl ].
VAR_013423
Natural varianti241 – 2411T → K in ALPS1A. 1 Publication
Corresponds to variant rs201072885 [ dbSNP | Ensembl ].
VAR_013424
Natural varianti241 – 2411T → P in ALPS1A. 2 Publications
Corresponds to variant rs121913076 [ dbSNP | Ensembl ].
VAR_013425
Natural varianti249 – 2491V → L in ALPS1A. 1 Publication
VAR_065128
Natural varianti250 – 2501R → P in ALPS1A. 2 Publications
Corresponds to variant rs121913080 [ dbSNP | Ensembl ].
VAR_013426
Natural varianti250 – 2501R → Q in ALPS1A; no effect on interaction with FADD. 2 Publications
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
Corresponds to variant rs121913082 [ dbSNP | Ensembl ].
VAR_018323
Natural varianti257 – 2571A → D in ALPS1A; loss of interaction with FADD. 2 Publications
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. 4 Publications
Corresponds to variant rs28929498 [ dbSNP | Ensembl ].
VAR_013431
Natural varianti260 – 2601D → Y in ALPS1A; loss of interaction with FADD. 2 Publications
Corresponds to variant rs121913086 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121913081 [ dbSNP | Ensembl ].
VAR_013433
Natural varianti270 – 2701T → K in ALPS1A; loss of interaction with FADD. 2 Publications
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. 3 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:
EMBLi
GenBanki
DDBJi
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_000043.5. [P25445-1]
NP_001307548.1. NM_001320619.1.
NP_690610.1. NM_152871.3. [P25445-6]
NP_690611.1. NM_152872.3. [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.4. human. [P25445-1]

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:
EMBLi
GenBanki
DDBJi
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_000043.5. [P25445-1]
NP_001307548.1. NM_001320619.1.
NP_690610.1. NM_152871.3. [P25445-6]
NP_690611.1. NM_152872.3. [P25445-7]
UniGeneiHs.244139.
Hs.667309.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BZImodel-A1-335[»]
1DDFNMR-A218-335[»]
2NA7NMR-A/B/C171-198[»]
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...

Protein-protein interaction databases

BioGridi106851. 101 interactions.
DIPiDIP-924N.
IntActiP25445. 48 interactions.
MINTiMINT-146256.
STRINGi9606.ENSP00000347979.

PTM databases

iPTMnetiP25445.
PhosphoSiteiP25445.
SwissPalmiP25445.
UniCarbKBiP25445.

Polymorphism and mutation databases

BioMutaiFAS.
DMDMi119833.

Proteomic databases

EPDiP25445.
MaxQBiP25445.
PaxDbiP25445.
PeptideAtlasiP25445.
PRIDEiP25445.
TopDownProteomicsiP25445-7. [P25445-7]

Protocols and materials databases

DNASUi355.
Structural Biology KnowledgebaseSearch...

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.4. human. [P25445-1]

Organism-specific databases

CTDi355.
GeneCardsiFAS.
GeneReviewsiFAS.
HGNCiHGNC:11920. FAS.
HPAiHPA027444.
MalaCardsiFAS.
MIMi134637. gene.
601859. phenotype.
neXtProtiNX_P25445.
Orphaneti3261. Autoimmune lymphoproliferative syndrome.
85408. Juvenile rheumatoid factor-negative polyarthritis.
85410. Oligoarticular juvenile arthritis.
PharmGKBiPA36613.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J23A. Eukaryota.
ENOG4112ADB. LUCA.
GeneTreeiENSGT00730000111280.
HOGENOMiHOG000139681.
HOVERGENiHBG004091.
InParanoidiP25445.
KOiK04390.
OMAiCTTCEHG.
OrthoDBiEOG091G0DU6.
PhylomeDBiP25445.
TreeFamiTF333916.

Enzyme and pathway databases

ReactomeiR-HSA-6803211. TP53 Regulates Transcription of Death Receptors and Ligands.
R-HSA-75157. FasL/ CD95L signaling.
SIGNORiP25445.

Miscellaneous databases

EvolutionaryTraceiP25445.
GeneWikiiFas_receptor.
GenomeRNAii355.
PMAP-CutDBP25445.
PROiP25445.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000026103.
CleanExiHS_FAS.
ExpressionAtlasiP25445. baseline and differential.
GenevisibleiP25445. HS.

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]
PANTHERiPTHR23097:SF114. PTHR23097:SF114. 1 hit.
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]
ProtoNetiSearch...

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: September 7, 2016
This is version 210 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.