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Reviewed, UniProtKB/Swiss-Prot P25445 (TNR6_HUMAN)

Last modified January 19, 2010. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Tumor necrosis factor receptor superfamily member 6
Alternative name(s):
    FASLG receptor
    Apoptosis-mediating surface antigen FAS
    Apo-1 antigen
    CD_antigen=CD95
Gene names
Name: FAS
Synonyms: APT1, FAS1, TNFRSF6
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length335 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

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). Ref.4

Subunit structure

Binds DAXX. Interacts with HIPK3. Part of a complex containing HIPK3 and FADD By similarity. Binds RIPK1 and FAIM2. Interacts with BRE and FEM1B. Ref.14 Ref.15 Ref.16 Ref.18

Subcellular location

Isoform 1: Cell membrane; Single-pass type I membrane protein.

Isoform 2: Secreted.

Isoform 3: Secreted.

Isoform 4: Secreted.

Isoform 5: Secreted.

Isoform 6: Secreted.

Tissue specificity

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. Ref.3

Domain

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

Involvement in disease

Defects in FAS are the cause of autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]; also known as Canale-Smith syndrome (CSS). ALPS is a childhood syndrome involving hemolytic anemia and thrombocytopenia with massive lymphadenopathy and splenomegaly. Ref.6 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.28 Ref.29 Ref.30 Ref.31 Ref.33

Sequence similarities

Contains 1 death domain.

Contains 3 TNFR-Cys repeats.

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Ontologies

Keywords
   Biological processApoptosis
   Cellular componentCell membrane
Membrane
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
Signal
Transmembrane
   Molecular functionReceptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Gene Ontology (GO)
   Biological processactivation of pro-apoptotic gene products

Inferred from Experiment. Source: Reactome

anti-apoptosis

Traceable author statement. Source: ProtInc

immune response

Inferred from electronic annotation. Source: InterPro

induction of apoptosis by extracellular signals

Inferred from Experiment. Source: Reactome

positive regulation of necrotic cell death

Inferred from mutant phenotype. Source: UniProtKB

protein complex assembly

Traceable author statement. Source: ProtInc

signal transduction

Traceable author statement. Source: ProtInc

   Cellular componentcytosol Ref.4

Non-traceable author statement. Source: UniProtKB

death-inducing signaling complex

Inferred from direct assay. Source: UniProtKB

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

soluble fraction

Traceable author statement. Source: ProtInc

   Molecular functionidentical protein binding

Inferred from physical interaction. Source: IntAct

kinase binding Ref.14

Inferred from physical interaction. Source: UniProtKB

transmembrane receptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

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Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P25445-1)

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.
Isoform 2 (identifier: P25445-2)

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.
Isoform 3 (identifier: P25445-3)

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.
Isoform 4 (identifier: P25445-4)

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.
Isoform 5 (identifier: P25445-5)

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.
Isoform 6 (identifier: P25445-6)

Also known as: TMdel; A;

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

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 335310Tumor necrosis factor receptor superfamily member 6
PRO_0000034563

Regions

Topological domain26 – 173148Extracellular Potential
Transmembrane174 – 19017 Potential
Topological domain191 – 335145Cytoplasmic Potential
Repeat47 – 8337TNFR-Cys 1
Repeat84 – 12744TNFR-Cys 2
Repeat128 – 16639TNFR-Cys 3
Domain230 – 31485Death
Region212 – 317106Interaction with HIPK3 By similarity

Amino acid modifications

Modified residue2091Phosphoserine Ref.19
Modified residue2141Phosphothreonine Ref.19
Modified residue2251Phosphoserine By similarity
Modified residue2301Phosphoserine By similarity
Glycosylation1181N-linked (GlcNAc...) Ref.20
Glycosylation1361N-linked (GlcNAc...) Potential
Disulfide bond59 ↔ 73 By similarity
Disulfide bond63 ↔ 82 By similarity
Disulfide bond85 ↔ 101 By similarity
Disulfide bond104 ↔ 119 By similarity
Disulfide bond107 ↔ 127 By similarity
Disulfide bond129 ↔ 143 By similarity
Disulfide bond146 ↔ 157 By similarity
Disulfide bond149 ↔ 165 By similarity

Natural variations

Alternative sequence66 – 10338GERKA…SKCRR → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 2.
VSP_006481
Alternative sequence66 – 8621GERKA…CVPCQ → DVNMESSRNAHSPATPSAKR K in isoform 3.
VSP_006483
Alternative sequence87 – 335249Missing in isoform 3.
VSP_006484
Alternative sequence104 – 335232Missing in isoform 2.
VSP_006482
Alternative sequence112 – 14938GLEVE…PCTKC → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 4.
VSP_006485
Alternative sequence112 – 13221GLEVE…RCKPN → DVNMESSRNAHSPATPSAKR K in isoform 5.
VSP_006487
Alternative sequence133 – 335203Missing in isoform 5.
VSP_006488
Alternative sequence150 – 335186Missing in isoform 4.
VSP_006486
Alternative sequence169 – 18921Missing in isoform 6.
VSP_006489
Natural variant161A → T: dbSNP rs3218619. Ref.10
VAR_020008
Natural variant251A → T in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013416
Natural variant281T → A in ALPS1A; associated with autoimmune hepatitis type 2. Ref.26
VAR_013417
Natural variant821C → R in ALPS1A. Ref.31
VAR_013418
Natural variant1181N → S in squamous cell carcinoma; burn-scar related; somatic mutation. Ref.32
VAR_018321
Natural variant1211R → W in ALPS1A. Ref.24
VAR_013419
Natural variant1221T → I: dbSNP rs3218614. Ref.10
VAR_020009
Natural variant1781C → R in squamous cell carcinoma; burn-scar related; somatic mutation. Ref.32
VAR_018322
Natural variant1801L → F in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013420
Natural variant1831P → L in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013421
Natural variant1841I → V: dbSNP rs28362322.
VAR_052347
Natural variant1981T → I in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013422
Natural variant2321Y → C in ALPS1A. Ref.24
VAR_013423
Natural variant2411T → K in ALPS1A. Ref.29
VAR_013424
Natural variant2411T → P in ALPS1A. Ref.22 Ref.33
VAR_013425
Natural variant2501R → P in ALPS1A. Ref.31
VAR_013426
Natural variant2501R → Q in ALPS1A. Ref.29
VAR_013427
Natural variant2551N → D in squamous cell carcinoma; burn-scar related; somatic mutation. Ref.32
VAR_018323
Natural variant2571A → D in ALPS1A. Ref.25
VAR_013428
Natural variant2601D → G in ALPS1A. Ref.31
VAR_013429
Natural variant2601D → V in ALPS1A and non-Hodgkin lymphoma; somatic mutation. dbSNP rs28929498. Ref.28 Ref.33 Ref.27
VAR_013431
Natural variant2601D → Y in ALPS1A. Ref.23
VAR_013430
Natural variant2621I → S in ALPS1A. Ref.6
VAR_058910
Natural variant2641N → K in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013432
Natural variant2701T → I in ALPS1A. Ref.31 Ref.33
VAR_013433
Natural variant2721E → G in ALPS1A. Ref.30 Ref.33
VAR_013434
Natural variant2721E → K in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013435
Natural variant2781L → F in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013436
Natural variant2991K → N in non-Hodgkin lymphoma; somatic mutation. Ref.27
VAR_013437
Natural variant3051T → I: dbSNP rs3218611. Ref.10
VAR_020942
Natural variant3101I → S in ALPS1A. Ref.25
VAR_013438

Experimental info

Sequence conflict2241L → F in AAR08906. Ref.10
Sequence conflict2421L → P in CAR92543. Ref.8

Secondary structure

1 ................. 335
Helix Strand Turn

Details...

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1992. Version 1.
Checksum: 0139942535111410

FASTA33537,732
        10         20         30         40         50         60 
MLGIWTLLPL VLTSVARLSS KSVNAQVTDI NSKGLELRKT VTTVETQNLE GLHHDGQFCH 

        70         80         90        100        110        120 
KPCPPGERKA RDCTVNGDEP DCVPCQEGKE YTDKAHFSSK CRRCRLCDEG HGLEVEINCT 

       130        140        150        160        170        180 
RTQNTKCRCK PNFFCNSTVC EHCDPCTKCE HGIIKECTLT SNTKCKEEGS RSNLGWLCLL 

       190        200        210        220        230        240 
LLPIPLIVWV KRKEVQKTCR KHRKENQGSH ESPTLNPETV AINLSDVDLS KYITTIAGVM 

       250        260        270        280        290        300 
TLSQVKGFVR KNGVNEAKID EIKNDNVQDT AEQKVQLLRN WHQLHGKKEA YDTLIKDLKK 

       310        320        330 
ANLCTLAEKI QTIILKDITS DSENSNFRNE IQSLV

« Hide

Isoform 2 (del2) (D).

Checksum: F0DEA7F598AFBB00
Show »

FASTA10311,435
Isoform 3 (del3) (E).

Checksum: D55B05CA4C2D1D49
Show »

FASTA869,390
Isoform 4 (B).

Checksum: 5061E69484678FC0
Show »

FASTA14916,648
Isoform 5 (C).

Checksum: B10B6F86DE5E8690
Show »

FASTA13214,602
Isoform 6 (TMdel) (A).

Checksum: 83F8FAC62DB8B457
Show »

FASTA31435,386

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References

« Hide 'large scale' references
[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: 1713127] [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: 1375228] [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: 7575433] [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: 7533181] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 6), FUNCTION.
[5]"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: 8648105] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
[6]"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: 17336828] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALPS1A SER-262.
[7]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.
[8]De La Calle-Martin O.
Submitted (OCT-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[9]"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. expand/collapse author list , 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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[10]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.
[11]"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. expand/collapse author list , 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: 15164054] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Urinary bladder.
[14]"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: 7538908] [Abstract]
Cited for: INTERACTION WITH RIPK1.
[15]"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: 10542291] [Abstract]
Cited for: INTERACTION WITH FEM1B.
[16]"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: 10535980] [Abstract]
Cited for: INTERACTION WITH FAIM2.
[17]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[18]"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: 15465831] [Abstract]
Cited for: INTERACTION WITH BRE.
[19]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209 AND THR-214, MASS SPECTROMETRY.
[20]"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: 19159218] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118, MASS SPECTROMETRY.
Tissue: Liver.
[21]"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: 8967952] [Abstract]
Cited for: STRUCTURE BY NMR OF 218-335.
[22]"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: 7540117] [Abstract]
Cited for: VARIANT ALPS1A PRO-241.
[23]"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: 8929361] [Abstract]
Cited for: VARIANT ALPS1A TYR-260.
[24]"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: 9028321] [Abstract]
Cited for: VARIANTS ALPS1A TRP-121 AND CYS-232.
[25]"Clincial, 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: 9028957] [Abstract]
Cited for: VARIANTS ALPS1A ASP-257 AND SER-310.
[26]"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: 9322534] [Abstract]
Cited for: VARIANT ALPS1A ALA-28.
[27]"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: 9787134] [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.
[28]"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: 9821419] [Abstract]
Cited for: VARIANT ALPS1A VAL-260.
[29]"Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance."
Jackson C.E., Fischer R.E., Hsu A.P., Anderson S.M., Choi Y., Wang J., Dale J.K., Fleisher T.A., Middelton L.A., Sneller M.C., Lenardo M.J., Straus S.E., Puck J.M.
Am. J. Hum. Genet. 64:1002-1014(1999) [PubMed: 10090885] [Abstract]
Cited for: VARIANTS ALPS1A LYS-241 AND GLN-250.
[30]"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: 10340403] [Abstract]
Cited for: VARIANT ALPS1A GLY-272.
[31]"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: 9927496] [Abstract]
Cited for: VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270.
[32]"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: 10620127] [Abstract]
Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255.
[33]"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: 11418480] [Abstract]
Cited for: VARIANTS ALPS1A PRO-241; VAL-260; ILE-270 AND GLY-272.
+Additional computationally mapped references.

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
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: CAI13871.1.
AL157394 Genomic DNA. Translation: CAI13872.1.
CH471066 Genomic DNA. Translation: EAW50151.1.
BC012479 mRNA. Translation: AAH12479.1.
IPIIPI00170811.
IPI00216357.
IPI00216358.
IPI00216359.
IPI00291314.
IPI00744894.
PIRA40036.
I37383.
I37384.
S58662.
RefSeqNP_000034.1.
NP_690610.1.
NP_690611.1.
UniGeneHs.244139

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1BZImodel-A1-335[»]
1DDFNMR-A218-335[»]
3EWTX-ray2.40E230-254[»]
3EZQX-ray2.73A/C/E/G/I/K/M/O223-335[»]
SMRP25445. Positions 60-168.
ModBaseSearch...

Protein-protein interaction databases

DIPDIP-2998N.
DIP-924N.
IntActP25445. 20 interactions.
STRINGP25445.

PTM databases

PhosphoSiteP25445.

Proteomic databases

PRIDEP25445.

Genome annotation databases

EnsemblENST00000355740; ENSP00000347979; ENSG00000026103; Homo sapiens. [Genome view]
GeneID355.
KEGGhsa:355.
UCSCuc001kfr.1. human.
uc001kfu.1. human.
uc001kfv.1. human.
uc001kfx.1. human.
uc001kfy.1. human.

Organism-specific databases

CTD355.
GeneCardsGC10P090741.
H-InvDBHIX0009017.
HGNCHGNC:11920. FAS.
HPACAB000124.
MIM134637. gene.
601859. phenotype.
Orphanet3261. Autoimmune lymphoproliferative syndrome.
PharmGKBPA36613.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG13680.
HOVERGENP25445.
PhylomeDBP25445.

Enzyme and pathway databases

Pathway_Interaction_DBfaspathway. FAS signaling pathway (CD95).
hivnefpathway. HIV-1 Nef: Negative effector of Fas and TNF-alpha.
ReactomeREACT_578. Apoptosis.

Gene expression databases

ArrayExpressP25445.
BgeeP25445.
CleanExHS_FAS.
GenevestigatorP25445.
GermOnlineENSG00000026103. Homo sapiens.

Family and domain databases

InterProIPR000488. Death.
IPR011029. DEATH-like.
IPR008063. Fas_rcpt.
IPR001368. TNFR_Cys_rich_reg.
[Graphical view]
Gene3DG3DSA:1.10.533.10. DEATH_like. 1 hit.
PfamPF00531. Death. 1 hit.
PF00020. TNFR_c6. 2 hits.
[Graphical view]
PRINTSPR01680. TNFACTORR6.
SMARTSM00005. DEATH. 1 hit.
SM00208. TNFR. 3 hits.
[Graphical view]
PROSITEPS50017. DEATH_DOMAIN. 1 hit.
PS00652. TNFR_NGFR_1. 2 hits.
PS50050. TNFR_NGFR_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio1471.
PMAP-CutDBP25445.
SOURCESearch...

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Entry information

Entry nameTNR6_HUMAN
AccessionPrimary (citable) accession number: P25445
Secondary accession number(s): A9UJX4 expand/collapse secondary AC list , B6VNV4, Q14292, Q14293, Q14294, Q14295, Q16652, Q5T9P1, Q5T9P2, Q6SSE9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: May 1, 1992
Last modified: January 19, 2010
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Relevant documents

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Human chromosome 10: entries, gene names and cross-references to MIM

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents