Faf1 Fas-associated factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Faf1provided by MGI
Official Full Name: Fas-associated factor 1provided by MGI
Primary source: MGI:MGI:109419
See related: Ensembl:ENSMUSG00000010517 AllianceGenome:MGI:109419
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fam; Dffrx
Summary: Enables protein domain specific binding activity. Acts upstream of or within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors and regulation of cell adhesion. Located in nuclear envelope and ooplasm. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system gland. Orthologous to human FAF1 (Fas associated factor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 10.0), CNS E18 (RPKM 8.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C7; 4 51.33 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (109533873..109821157)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (109676627..109963960)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FAF1 plays a key role in ischemic retinal damage and may be implicated in the pathogenesis of retinal ischemic disease
Title: FAF1 mediates necrosis through JNK1-mediated mitochondrial dysfunction leading to retinal degeneration in the ganglion cell layer upon ischemic insult.
Data suggest that Faf1 plays role in meiotic resumption in oocytes; Faf1 mRNA and protein are persistently present during oogenesis/oocyte maturation; Faf1 mRNA levels are similar in germinal vesicle (GV), GV breakdown, and metaphase II stages of oogenesis/oocyte maturation. Theses studies were conducted in oocytes during in vitro oocyte maturation.
Title: Fas-associated protein factor 1 is involved in meiotic resumption in mouse oocytes.
NLRP2 interacts with FAF1 under normal physiological conditions
Title: NLRP2 and FAF1 deficiency blocks early embryogenesis in the mouse.
These data demonstrate the presence of an FAF1-PARP1 axis that is involved in oxidative stress-induced necrosis and in the pathology of Parkinson's disease.
Title: FAF1 mediates regulated necrosis through PARP1 activation upon oxidative stress leading to dopaminergic neurodegeneration.
FAF1 knockdown immune cells were highly susceptible to RNA virus infection and showed low levels of inflammatory cytokines and type I interferon (IFN) production.
Title: FAS-associated factor-1 positively regulates type I interferon response to RNA virus infection by targeting NLRX1.
Increased FAF1 expression triggers caspase-3 cleavage and activation, leading to hyperphosphorylated tau aggregation and subsequent neurofibrillary tangles formation, in turn initiating apoptosis.
Title: Fas-associated factor 1 promotes in neurofibrillary tangle-mediated cell death of basal forebrain cholinergic neurons in P301L transgenic mice.
Taken together, these results suggest a new role for FAF1: that of a positive modulator for Parkinson's disease .
Title: Accumulation of the parkin substrate, FAF1, plays a key role in the dopaminergic neurodegeneration.
FAF1 is a novel inhibitory factor of canonical Wnt signaling pathway
Title: Fas-associated factor 1 antagonizes Wnt signaling by promoting β-catenin degradation.
Capsaicin-induced cancer cell apoptosis involves FAF1, a TRPV1 associated protein.
Title: Fas-associated factor 1 is a negative regulator in capsaicin induced cancer cell apoptosis.
analysis of the negative feedback regulation of Aurora-A via phosphorylation of Fas-associated factor-1
Title: Negative feedback regulation of Aurora-A via phosphorylation of Fas-associated factor-1.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Gene trapped (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124745 (e-PCR)
- UniSTS:161567

Faf1 (e-PCR), detects polymorphism
- UniSTS:532514

AA959731 (e-PCR)
- UniSTS:207656

AI527141 (e-PCR)
- UniSTS:207657

D4Mit146 (e-PCR), detects polymorphism
- UniSTS:129922

Faf1 (e-PCR), detects polymorphism
- UniSTS:143068

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables NF-kappaB binding	IEA Inferred from Electronic Annotation more info
enables NF-kappaB binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic sequestering of NF-kappaB	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic sequestering of NF-kappaB	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA replication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of VCP-NPL4-UFD1 AAA ATPase complex	IEA Inferred from Electronic Annotation more info
part_of VCP-NPL4-UFD1 AAA ATPase complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in ooplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: FAS-associated factor 1

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.

mRNA and Protein(s)

NM_001418777.1 → NP_001405706.1 FAS-associated factor 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL627188, AL627392
NM_007983.3 → NP_032009.2 FAS-associated factor 1 isoform 1

See identical proteins and their annotated locations for NP_032009.2

Status: VALIDATED

Source sequence(s)

AL627188, AL627392

Consensus CDS

CCDS18468.1

UniProtKB/Swiss-Prot

P54731, Q6P1F8

Related

ENSMUSP00000099785.5, ENSMUST00000102724.5

Conserved Domains (4) summary

cd01771
Location:569 → 648

Faf1_UBX; Faf1 UBX domain

cd02990
Location:351 → 486

UAS_FAF1; UAS family, FAS-associated factor 1 (FAF1) subfamily; FAF1 contains a UAS domain of unknown function N-terminal to a ubiquitin-associated UBX domain. FAF1 also contains ubiquitin-associated UBA and nuclear targeting domains, N-terminal to the UAS domain. ...

cd14413
Location:14 → 46

UBA_FAF1; UBA-like domain found in FAS-associated factor 1 (FAF1) and similar proteins

pfam00836
Location:470 → 558

Stathmin; Stathmin family

RNA

NR_184814.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL627188, AL627392
NR_184815.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL627188, AL627392
NR_184816.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL627188, AL627392