FAF1 Fas associated factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAF1provided by HGNC
Official Full Name: Fas associated factor 1provided by HGNC
Primary source: HGNC:HGNC:3578
See related: Ensembl:ENSG00000185104 MIM:604460; AllianceGenome:HGNC:3578
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: hFAF1; CGI-03; HFAF1s; UBXD12; UBXN3A
Summary: Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 31.0), thyroid (RPKM 14.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (50437028..50960267, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (50316640..50840146, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (50902700..51425939, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
Title: Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
FAF1 downregulation by Toxoplasma gondii enables host IRF3 mobilization and promotes parasite growth.
Title: FAF1 downregulation by Toxoplasma gondii enables host IRF3 mobilization and promotes parasite growth.
USP7 and VCP(FAF1) define the SUMO/Ubiquitin landscape at the DNA replication fork.
Title: USP7 and VCP(FAF1) define the SUMO/Ubiquitin landscape at the DNA replication fork.
A novel function of FAF1, which induces dopaminergic neuronal death through cell-to-cell transmission.
Title: A novel function of FAF1, which induces dopaminergic neuronal death through cell-to-cell transmission.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Title: Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
the mechanisms of FAF1/SIM-mediated MR transrepression involve inhibition of MR N/C interactions and promotion of MR polyubiquitination and degradation.
Title: Identification of two independent SUMO-interacting motifs in Fas-associated factor 1 (FAF1): Implications for mineralocorticoid receptor (MR)-mediated transcriptional regulation.
C18H17NO6 and Scutellarin in the study. In molecular level, the mRNA and protein expression of Fas-associated factor 1 (FAF1) expression in U251 and LN229 were upregulated by C18H17NO6 and its combination with Scutellarin, especially the protein expression.
Title: C(18)H(17)NO(6) and Its Combination with Scutellarin Suppress the Proliferation and Induce the Apoptosis of Human Glioma Cells via Upregulation of Fas-Associated Factor 1 Expression.
These findings establish FAF1 as a modulator of MAVS and uncover mechanisms that regulate FAF1 to insure timely activation of antiviral defense.
Title: FAF1 Regulates Antiviral Immunity by Inhibiting MAVS but Is Antagonized by Phosphorylation upon Viral Infection.
Data show that activated proto-oncogene protein Akt (AKT) directly phosphorylates Fas associated factor 1 (FAF1) reduces FAF1 at the plasma membrane and results in an increase in TGF-beta type II receptor (TbetaRII) at the cell surface.
Title: FAF1 phosphorylation by AKT accumulates TGF-β type II receptor and drives breast cancer metastasis.
FAF1 was vital in the proliferation of NP cells by modulating the Erk signaling pathway, which suggests that FAF1 may be a novel marker in the early diagnosis of Intervertebral disc degeneration.
Title: Long non‑coding RNA FAF1 promotes intervertebral disc degeneration by targeting the Erk signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (48)

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

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of comorbid depressive syndrome and alcohol dependence. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74801 (e-PCR)
- UniSTS:42579

AL009799 (e-PCR)
- UniSTS:48991

D1S427 (e-PCR), detects polymorphism
- UniSTS:26209

SHGC-74798 (e-PCR)
- UniSTS:34428

D1S2159 (e-PCR)
- UniSTS:69772

D1S1452 (e-PCR)
- UniSTS:149648

SHGC-111441 (e-PCR)
- UniSTS:181912

SHGC-74799 (e-PCR)
- UniSTS:3233

RH66672 (e-PCR)
- UniSTS:57510

D1S2096 (e-PCR)
- UniSTS:15797

G16233 (e-PCR)
- UniSTS:64447

G23937 (e-PCR)
- UniSTS:20175

RH67781 (e-PCR)
- UniSTS:72937

RH102163 (e-PCR)
- UniSTS:96497

G16279 (e-PCR)
- UniSTS:36345

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase regulator activity	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IDA Inferred from Direct Assay more info	PubMed

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of CD95 death-inducing signaling complex	NAS Non-traceable Author Statement more info	PubMed
part_of VCP-NPL4-UFD1 AAA ATPase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in ooplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: FAS-associated factor 1

Names: Fas (TNFRSF6) associated factor 1; TNFRSF6-associated factor 1; UBX domain protein 3A; UBX domain-containing protein 12; UBX domain-containing protein 3A

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_007051.3 → NP_008982.1 FAS-associated factor 1

See identical proteins and their annotated locations for NP_008982.1

Status: REVIEWED

Source sequence(s)

AL049637, AL359977, BC004970, KF495936

Consensus CDS

CCDS554.1

UniProtKB/Swiss-Prot

Q549F0, Q9UF34, Q9UNN5, Q9UNT3, Q9Y2Z3

UniProtKB/TrEMBL

A8K9X5

Related

ENSP00000379457.2, ENST00000396153.7

Conserved Domains (4) summary

cd01771
Location:570 → 649

Faf1_UBX; Faf1 UBX domain

cd02990
Location:352 → 487

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:471 → 559

Stathmin; Stathmin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

50437028..50960267 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442745.1 → XP_047298701.1 FAS-associated factor 1 isoform X2

UniProtKB/TrEMBL

A8K9X5
XM_047442743.1 → XP_047298699.1 FAS-associated factor 1 isoform X2

UniProtKB/TrEMBL

A8K9X5
XM_024452734.2 → XP_024308502.1 FAS-associated factor 1 isoform X1

UniProtKB/TrEMBL

A8K9X5

Conserved Domains (4) summary

cd01771
Location:562 → 641

Faf1_UBX; Faf1 UBX domain

cd02990
Location:344 → 479

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:6 → 38

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

pfam09731
Location:482 → 587

Mitofilin; Mitochondrial inner membrane protein
XM_024452736.2 → XP_024308504.1 FAS-associated factor 1 isoform X3

UniProtKB/TrEMBL

A8K9X5

Conserved Domains (3) summary

cd01771
Location:461 → 540

Faf1_UBX; Faf1 UBX domain

cd02990
Location:243 → 378

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. ...

pfam09731
Location:381 → 486

Mitofilin; Mitochondrial inner membrane protein

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

50316640..50840146 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333974.1 → XP_054189949.1 FAS-associated factor 1 isoform X2

UniProtKB/TrEMBL

A8K9X5
XM_054333973.1 → XP_054189948.1 FAS-associated factor 1 isoform X2

UniProtKB/TrEMBL

A8K9X5
XM_054333972.1 → XP_054189947.1 FAS-associated factor 1 isoform X1

UniProtKB/TrEMBL

A8K9X5
XM_054333975.1 → XP_054189950.1 FAS-associated factor 1 isoform X3

UniProtKB/TrEMBL

A8K9X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_131917.1: Suppressed sequence

Description

NM_131917.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.