FADD Fas associated via death domain [Homo sapiens (human)] - Gene

Summary

Official Symbol: FADDprovided by HGNC
Official Full Name: Fas associated via death domainprovided by HGNC
Primary source: HGNC:HGNC:3573
See related: Ensembl:ENSG00000168040 MIM:602457; AllianceGenome:HGNC:3573
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GIG3; IMD90; MORT1
Summary: The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 9.3), colon (RPKM 8.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (70203296..70207390)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (70218250..70222344)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (70049402..70053496)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.
Title: FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.
Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP complexes regulating apoptosis.
Title: Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP complexes regulating apoptosis.
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Title: Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Title: Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity.
Title: The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity.
Prognostic significance and immune correlates of FADD in penile squamous cell carcinoma.
Title: Prognostic significance and immune correlates of FADD in penile squamous cell carcinoma.
FADD phosphorylation contributes to development of renal fibrosis by accelerating epithelial-mesenchymal transition.
Title: FADD phosphorylation contributes to development of renal fibrosis by accelerating epithelial-mesenchymal transition.
A Dual Role for FADD in Human Precursor T-Cell Neoplasms.
Title: A Dual Role for FADD in Human Precursor T-Cell Neoplasms.
The Classical Apoptotic Adaptor FADD Regulates Glycolytic Capacity in Acute Lymphoblastic Leukemia.
Title: The Classical Apoptotic Adaptor FADD Regulates Glycolytic Capacity in Acute Lymphoblastic Leukemia.
CircRNA 001418 Promoted Cell Growth and Metastasis of Bladder Carcinoma via EphA2 by miR-1297.
Title: CircRNA 001418 Promoted Cell Growth and Metastasis of Bladder Carcinoma via EphA2 by miR-1297.

Submit: New GeneRIF Correction See all GeneRIFs (162)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
FADD-related immunodeficiency MedGen: C3151062 OMIM: 613759 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced neuron apoptosis requires the upregulation of the death receptor Fas and its associated death proteins, FADD and CASP8	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables caspase binding	IBA Inferred from Biological aspect of Ancestor more info
enables caspase binding	IDA Inferred from Direct Assay more info	PubMed
enables caspase binding	IPI Inferred from Physical Interaction more info	PubMed
enables death effector domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables death receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor serine/threonine kinase binding	IEA Inferred from Electronic Annotation more info
enables signaling adaptor activity	IEA Inferred from Electronic Annotation more info
enables tumor necrosis factor receptor binding	IEA Inferred from Electronic Annotation more info
enables tumor necrosis factor receptor superfamily binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in TRAIL-activated apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in behavioral response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in death-inducing signaling complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in lymph node development	ISS Inferred from Sequence or Structural Similarity more info
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in necroptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of activation-induced cell death of T cells	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of necroptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of activated T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of adaptive immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of execution phase of apoptosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type II interferon production	ISS Inferred from Sequence or Structural Similarity more info
involved_in spleen development	ISS Inferred from Sequence or Structural Similarity more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of CD95 death-inducing signaling complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CD95 death-inducing signaling complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic side of plasma membrane	IC Inferred by Curator more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of death-inducing signaling complex	IDA Inferred from Direct Assay more info	PubMed
part_of death-inducing signaling complex	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of ripoptosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: FAS-associated death domain protein

Names: Fas (TNFRSF6)-associated via death domain; Fas-associating death domain-containing protein; Fas-associating protein with death domain; growth-inhibiting gene 3 protein; mediator of receptor-induced toxicity

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027966.1 RefSeqGene

Range

5001..9240

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_228

mRNA and Protein(s)

NM_003824.4 → NP_003815.1 FAS-associated death domain protein

See identical proteins and their annotated locations for NP_003815.1

Status: REVIEWED

Source sequence(s)

AI886015, AL575732, AP000879, BC000334

Consensus CDS

CCDS8196.1

UniProtKB/Swiss-Prot

Q13158, Q14866, Q6IBR4

Related

ENSP00000301838.5, ENST00000301838.5

Conserved Domains (2) summary

cd08306
Location:97 → 181

Death_FADD; Fas-associated Death Domain protein-protein interaction domain

cd08336
Location:24 → 82

DED_FADD; Death Effector Domain found in Fas-Associated via Death Domain