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Protein

Tumor necrosis factor receptor superfamily member 6

Gene

FAS

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

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

GO - Biological processi

  • activation of cysteine-type endopeptidase activity involved in apoptotic process Source: Reactome
  • apoptotic process Source: MGI
  • apoptotic signaling pathway Source: Reactome
  • cellular response to amino acid starvation Source: CAFA
  • cellular response to hyperoxia Source: UniProtKB
  • cellular response to mechanical stimulus Source: UniProtKB
  • extrinsic apoptotic signaling pathway Source: UniProtKB
  • Fas signaling pathway Source: CAFA
  • immune response Source: GO_Central
  • inflammatory response Source: GO_Central
  • multicellular organism development Source: GO_Central
  • necroptotic signaling pathway Source: BHF-UCL
  • negative regulation of apoptotic process Source: ProtInc
  • negative regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Reactome
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of apoptotic signaling pathway Source: CAFA
  • positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway Source: CAFA
  • positive regulation of protein phosphorylation Source: CAFA
  • protein-containing complex assembly Source: ProtInc
  • regulation of apoptotic process Source: Reactome
  • regulation of cell proliferation Source: GO_Central
  • regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Reactome
  • regulation of stress-activated MAPK cascade Source: CAFA
  • response to lipopolysaccharide Source: GO_Central
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionCalmodulin-binding, Receptor
Biological processApoptosis

Enzyme and pathway databases

ReactomeiR-HSA-140534 Ligand-dependent caspase activation
R-HSA-3371378 Regulation by c-FLIP
R-HSA-5213460 RIPK1-mediated regulated necrosis
R-HSA-5218900 CASP8 activity is inhibited
R-HSA-6803211 TP53 Regulates Transcription of Death Receptors and Ligands
R-HSA-69416 Dimerization of procaspase-8
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

EuPathDBiHostDB:ENSG00000026103.19
HGNCiHGNC:11920 FAS
MIMi134637 gene
neXtProtiNX_P25445

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 173ExtracellularSequence analysisAdd BLAST148
Transmembranei174 – 190HelicalSequence analysisAdd BLAST17
Topological domaini191 – 335CytoplasmicSequence analysisAdd BLAST145

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Autoimmune lymphoproliferative syndrome 1A (ALPS1A)13 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01341728T → A in ALPS1A; associated with autoimmune hepatitis type 2. 1 Publication1
Natural variantiVAR_01341882C → R in ALPS1A. 1 Publication1
Natural variantiVAR_013419121R → W in ALPS1A. 1 PublicationCorresponds to variant dbSNP:rs121913078EnsemblClinVar.1
Natural variantiVAR_013423232Y → C in ALPS1A; no effect on interaction with FADD. 2 PublicationsCorresponds to variant dbSNP:rs121913079EnsemblClinVar.1
Natural variantiVAR_013424241T → K in ALPS1A. 1 PublicationCorresponds to variant dbSNP:rs201072885Ensembl.1
Natural variantiVAR_013425241T → P in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913076EnsemblClinVar.1
Natural variantiVAR_065128249V → L in ALPS1A. 1 Publication1
Natural variantiVAR_013426250R → P in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913080EnsemblClinVar.1
Natural variantiVAR_013427250R → Q in ALPS1A; no effect on interaction with FADD. 2 Publications1
Natural variantiVAR_065129253G → D in ALPS1A. 1 Publication1
Natural variantiVAR_065130253G → S in ALPS1A. 1 Publication1
Natural variantiVAR_013428257A → D in ALPS1A; loss of interaction with FADD. 2 Publications1
Natural variantiVAR_065131259I → R in ALPS1A. 1 Publication1
Natural variantiVAR_013429260D → G in ALPS1A. 1 Publication1
Natural variantiVAR_013431260D → V in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 4 PublicationsCorresponds to variant dbSNP:rs28929498EnsemblClinVar.1
Natural variantiVAR_013430260D → Y in ALPS1A; loss of interaction with FADD. 2 PublicationsCorresponds to variant dbSNP:rs121913086EnsemblClinVar.1
Natural variantiVAR_058910262I → S in ALPS1A. 1 Publication1
Natural variantiVAR_013433270T → I in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913081EnsemblClinVar.1
Natural variantiVAR_065132270T → K in ALPS1A; loss of interaction with FADD. 2 Publications1
Natural variantiVAR_013434272E → G in ALPS1A. 2 Publications1
Natural variantiVAR_013435272E → K in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 3 Publications1
Natural variantiVAR_013438310I → S in ALPS1A. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi250R → E: Strongly decreased interaction with FADD. 1 Publication1
Mutagenesisi261E → K: Loss of interaction with FADD. 1 Publication1
Mutagenesisi283Q → K: Loss of interaction with FADD. 1 Publication1
Mutagenesisi287K → D: Strongly decreased interaction with FADD. 1 Publication1
Mutagenesisi291Y → D: Decreased interaction with FADD. 1 Publication1
Mutagenesisi313I → D: Constitutive activation. Promotes apoptosis, both in the presence and in the absence of stimulation by a ligand. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi355
GeneReviewsiFAS
MalaCardsiFAS
MIMi601859 phenotype
OpenTargetsiENSG00000026103
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)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000003456326 – 335Tumor necrosis factor receptor superfamily member 6Add BLAST310

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi28O-linked (GalNAc...) threonine1 Publication1
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
Glycosylationi118N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi129 ↔ 143PROSITE-ProRule annotation
Glycosylationi136N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 157PROSITE-ProRule annotation
Disulfide bondi149 ↔ 165PROSITE-ProRule annotation
Modified residuei209PhosphoserineCombined sources1
Modified residuei214PhosphothreonineBy similarity1
Modified residuei225PhosphoserineCombined sources1

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
ProteomicsDBi54273
54274 [P25445-2]
54275 [P25445-3]
54276 [P25445-4]
54277 [P25445-5]
54278 [P25445-6]
TopDownProteomicsiP25445-7 [P25445-7]

PTM databases

GlyConnecti773
iPTMnetiP25445
PhosphoSitePlusiP25445
SwissPalmiP25445
UniCarbKBiP25445

Miscellaneous databases

PMAP-CutDBiP25445

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 (PubMed:7538908, PubMed:10535980). Interacts with BABAM2 and FEM1B (PubMed:10542291, PubMed:15465831). Interacts with FADD (PubMed:21109225, PubMed:19118384). 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). Interacts with CALM (PubMed:24914971).By similarity7 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • calmodulin binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • kinase binding Source: BHF-UCL
  • tumor necrosis factor binding Source: GO_Central

Protein-protein interaction databases

BioGridi106851, 107 interactors
CORUMiP25445
DIPiDIP-924N
IntActiP25445, 52 interactors
MINTiP25445
STRINGi9606.ENSP00000347979

Structurei

Secondary structure

1335
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi67 – 71Combined sources5
Beta strandi75 – 77Combined sources3
Beta strandi82 – 84Combined sources3
Turni87 – 89Combined sources3
Helixi109 – 111Combined sources3
Beta strandi113 – 117Combined sources5
Beta strandi126 – 129Combined sources4
Beta strandi137 – 139Combined sources3
Helixi174 – 181Combined sources8
Helixi184 – 193Combined sources10
Helixi232 – 242Combined sources11
Turni251 – 253Combined sources3
Helixi256 – 265Combined sources10
Helixi270 – 282Combined sources13
Helixi287 – 319Combined sources33
Helixi327 – 334Combined sources8

3D structure databases

ProteinModelPortaliP25445
SMRiP25445
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP25445

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati47 – 83TNFR-Cys 1Add BLAST37
Repeati84 – 127TNFR-Cys 2Add BLAST44
Repeati128 – 166TNFR-Cys 3Add BLAST39
Domaini230 – 314DeathPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni212 – 317Interaction with HIPK3By similarityAdd BLAST106
Regioni230 – 254Interaction with CALM1 PublicationAdd BLAST25

Domaini

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

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

CDDicd08316 Death_FAS_TNFRSF6, 1 hit
cd10579 TNFRSF6, 1 hit
InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR008063 Fas_rcpt
IPR001368 TNFR/NGFR_Cys_rich_reg
IPR033998 TNFRSF6_death
IPR033999 TNFRSF6_N
PANTHERiPTHR23097:SF114 PTHR23097:SF114, 2 hits
PfamiView protein in Pfam
PF00531 Death, 1 hit
PF00020 TNFR_c6, 2 hits
PRINTSiPR01680 TNFACTORR6
SMARTiView protein in SMART
SM00005 DEATH, 1 hit
SM00208 TNFR, 3 hits
SUPFAMiSSF47986 SSF47986, 1 hit
PROSITEiView protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS00652 TNFR_NGFR_1, 2 hits
PS50050 TNFR_NGFR_2, 2 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti224L → F in AAR08906 (Ref. 11) Curated1
Sequence conflicti242L → P in CAR92543 (Ref. 9) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02000816A → T1 PublicationCorresponds to variant dbSNP:rs3218619EnsemblClinVar.1
Natural variantiVAR_01341625A → T in non-Hodgkin lymphoma; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs606231364EnsemblClinVar.1
Natural variantiVAR_01341728T → A in ALPS1A; associated with autoimmune hepatitis type 2. 1 Publication1
Natural variantiVAR_01341882C → R in ALPS1A. 1 Publication1
Natural variantiVAR_018321118N → S in squamous cell carcinoma; burn-scar related; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913083EnsemblClinVar.1
Natural variantiVAR_013419121R → W in ALPS1A. 1 PublicationCorresponds to variant dbSNP:rs121913078EnsemblClinVar.1
Natural variantiVAR_020009122T → I1 PublicationCorresponds to variant dbSNP:rs3218614EnsemblClinVar.1
Natural variantiVAR_018322178C → R in squamous cell carcinoma; burn-scar related; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913084EnsemblClinVar.1
Natural variantiVAR_013420180L → F in non-Hodgkin lymphoma; somatic mutation. 1 Publication1
Natural variantiVAR_013421183P → L in non-Hodgkin lymphoma; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs758835365Ensembl.1
Natural variantiVAR_052347184I → V. Corresponds to variant dbSNP:rs28362322EnsemblClinVar.1
Natural variantiVAR_013422198T → I in non-Hodgkin lymphoma; somatic mutation. 1 Publication1
Natural variantiVAR_013423232Y → C in ALPS1A; no effect on interaction with FADD. 2 PublicationsCorresponds to variant dbSNP:rs121913079EnsemblClinVar.1
Natural variantiVAR_013424241T → K in ALPS1A. 1 PublicationCorresponds to variant dbSNP:rs201072885Ensembl.1
Natural variantiVAR_013425241T → P in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913076EnsemblClinVar.1
Natural variantiVAR_065128249V → L in ALPS1A. 1 Publication1
Natural variantiVAR_013426250R → P in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913080EnsemblClinVar.1
Natural variantiVAR_013427250R → Q in ALPS1A; no effect on interaction with FADD. 2 Publications1
Natural variantiVAR_065129253G → D in ALPS1A. 1 Publication1
Natural variantiVAR_065130253G → S in ALPS1A. 1 Publication1
Natural variantiVAR_018323255N → D in squamous cell carcinoma; burn-scar related; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913082EnsemblClinVar.1
Natural variantiVAR_013428257A → D in ALPS1A; loss of interaction with FADD. 2 Publications1
Natural variantiVAR_065131259I → R in ALPS1A. 1 Publication1
Natural variantiVAR_013429260D → G in ALPS1A. 1 Publication1
Natural variantiVAR_013431260D → V in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 4 PublicationsCorresponds to variant dbSNP:rs28929498EnsemblClinVar.1
Natural variantiVAR_013430260D → Y in ALPS1A; loss of interaction with FADD. 2 PublicationsCorresponds to variant dbSNP:rs121913086EnsemblClinVar.1
Natural variantiVAR_058910262I → S in ALPS1A. 1 Publication1
Natural variantiVAR_013432264N → K in non-Hodgkin lymphoma; somatic mutation. 1 Publication1
Natural variantiVAR_013433270T → I in ALPS1A. 2 PublicationsCorresponds to variant dbSNP:rs121913081EnsemblClinVar.1
Natural variantiVAR_065132270T → K in ALPS1A; loss of interaction with FADD. 2 Publications1
Natural variantiVAR_013434272E → G in ALPS1A. 2 Publications1
Natural variantiVAR_013435272E → K in ALPS1A; also found in non-Hodgkin lymphoma; somatic mutation; loss of interaction with FADD. 3 Publications1
Natural variantiVAR_013436278L → F in non-Hodgkin lymphoma; somatic mutation. 1 Publication1
Natural variantiVAR_013437299K → N in non-Hodgkin lymphoma; somatic mutation. 1 Publication1
Natural variantiVAR_020942305T → I1 PublicationCorresponds to variant dbSNP:rs3218611Ensembl.1
Natural variantiVAR_013438310I → S in ALPS1A. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00648166 – 103GERKA…SKCRR → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 2. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_00648366 – 86GERKA…CVPCQ → DVNMESSRNAHSPATPSAKR K in isoform 3. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_00648487 – 335Missing in isoform 3. 2 PublicationsAdd BLAST249
Alternative sequenceiVSP_006482104 – 335Missing in isoform 2. 2 PublicationsAdd BLAST232
Alternative sequenceiVSP_006485112 – 149GLEVE…PCTKC → DVNMESSRNAHSPATPSAKR KDPDLTWGGFVFFFCQFH in isoform 4. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_006487112 – 132GLEVE…RCKPN → DVNMESSRNAHSPATPSAKR K in isoform 5. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_006488133 – 335Missing in isoform 5. 2 PublicationsAdd BLAST203
Alternative sequenceiVSP_006486150 – 335Missing in isoform 4. 2 PublicationsAdd BLAST186
Alternative sequenceiVSP_006489169 – 189Missing in isoform 6. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_045235218 – 220ETV → MLT in isoform 7. 1 Publication3
Alternative sequenceiVSP_045236221 – 335Missing in isoform 7. 1 PublicationAdd BLAST115

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 No translation available.
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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: May 1, 1992
Last modified: July 18, 2018
This is version 230 of the entry and version 1 of the sequence. See 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

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