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The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
FAS (Fas Cell Surface Death Receptor) is a Protein Coding gene. Diseases associated with FAS include Autoimmune Lymphoproliferative Syndrome and Lymphoproliferative Syndrome. Among its related pathways are Signal transduction_JNK pathway and TP53 Regulates Transcription of Cell Death Genes. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is LTBR.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J088988 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 785.6 | +23.4 | 23441 | 8.6 | ZNF24 ZBTB6 POLR2A ZNF362 MYC NFYC ETV6 RELA CEBPB ZNF652 | FAS ACTA2 ENSG00000275693 ENSG00000286116 FAS-AS1 ENSG00000240996 ACTA2-AS1 CH25H | |
GH10J088948 | Promoter/Enhancer | 2 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.4 | -18.5 | -18513 | 5.8 | CTCF HLF L3MBTL2 SP1 CREB1 POLR2A PRDM10 ZNF766 ZBTB17 GABPA | ACTA2 lnc-ANKRD22-1 FAS CH25H STAMBPL1 LIPF ACTA2-AS1 | |
GH10J088968 | Enhancer | 0.5 | Ensembl ENCODE dbSUPER | 750.6 | -1.1 | -1103 | 1 | FAS piR-39904-004 ACTA2 STAMBPL1 | ||
GH10J088971 | Enhancer | 0.2 | dbSUPER | 750.6 | +0.6 | 638 | 0.5 | FAS lnc-ANKRD22-2 ACTA2 STAMBPL1 | ||
GH10J088969 | Enhancer | 0.2 | dbSUPER | 750.6 | -0.4 | -362 | 0.4 | FAS ANKRD22 piR-39904-004 ACTA2 STAMBPL1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 7536190 |
GO:0005516 | calmodulin binding | IEA,IDA | 24914971 |
GO:0019900 | kinase binding | IPI | 7538908 |
GO:0038023 | signaling receptor activity | NAS,TAS | 7533181 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005829 | cytosol | NAS | 7533181 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | IDA | 22891283 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation by c-FLIP | ||
2 | Allograft rejection |
CTL Mediated Apoptosis
.38
|
|
3 | Apoptosis Modulation and Signaling |
.41
|
.31
|
4 | PEDF Induced Signaling |
PEDF Induced Signaling
.73
NFAT Signaling and Lymphocyte Interactions
.57
|
STAT3 Pathway
.47
|
5 | TNFR1 Pathway |
Apoptotic Pathways Triggered By HIV1
.42
|
Apoptosis through Death Receptors
.42
Fas Signaling
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IMP | 11096076 |
GO:0006915 | apoptotic process | TAS,IDA | 9681877 |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | TAS | -- |
GO:0006955 | immune response | IEA | -- |
GO:0007165 | signal transduction | TAS | 9360929 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Betulinic acid | Anti-HIV and antitumor compound,pentacyclic triterpenoid | 472-15-1 |
Fas C- Terminal Tripeptide | AC-SER-LEU-VAL-OH | 189109-90-8 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
SP9: | - | - | - | - | |||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||
SP11: | - | - | |||||||||||||||||||||||||||||||||
SP12: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | FAS 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | FAS 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | FAS 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Fas 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Fas 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | FAS 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | FAS 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | FAS 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | fas 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | fas 33 32 |
|
OneToOne |
SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1051070 | benign, Autoimmune lymphoproliferative syndrome | 89,015,015(+) | A/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
rs113022949 | likely-benign, Autoimmune lymphoproliferative syndrome | 89,003,031(+) | T/A/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs121913076 | pathogenic, Autoimmune lymphoproliferative syndrome, type 1a, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,014,163(+) | A/C | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs121913077 | pathogenic, Autoimmune lymphoproliferative syndrome, type 1a | 89,014,259(+) | C/T | 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
rs121913078 | pathogenic, Autoimmune lymphoproliferative syndrome, type 1a, Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] | 89,008,915(+) | C/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3624139 | CNV | gain | 21293372 |
esv3624143 | CNV | loss | 21293372 |
esv3624144 | CNV | gain | 21293372 |
nsv551841 | CNV | loss | 21841781 |
nsv831943 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune lymphoproliferative syndrome |
|
|
lymphoproliferative syndrome |
|
|
silicosis |
|
|
dianzani autoimmune lymphoproliferative disease |
|
|
caplan's syndrome |
|
|