FAU FAU ubiquitin like and ribosomal protein S30 fusion [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAUprovided by HGNC
Official Full Name: FAU ubiquitin like and ribosomal protein S30 fusionprovided by HGNC
Primary source: HGNC:HGNC:3597
See related: Ensembl:ENSG00000149806 MIM:134690; AllianceGenome:HGNC:3597
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: S30; FAU1; Fub1; Fubi; asr1; eS30; RPS30; MNSFbeta
Summary: This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]
Expression: Ubiquitous expression in ovary (RPKM 446.2), bone marrow (RPKM 364.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65120630..65122134, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65113909..65115413, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (64888102..64889606, complement)

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: 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?

Processing of the ribosomal ubiquitin-like fusion protein FUBI-eS30/FAU is required for 40S maturation and depends on USP36.
Title: Processing of the ribosomal ubiquitin-like fusion protein FUBI-eS30/FAU is required for 40S maturation and depends on USP36.
MNSFbeta Regulates TNFalpha Production by Interacting with RC3H1 in Human Macrophages, and Dysfunction of MNSFbeta in Decidual Macrophages Is Associated With Recurrent Pregnancy Loss.
Title: MNSFβ Regulates TNFα Production by Interacting with RC3H1 in Human Macrophages, and Dysfunction of MNSFβ in Decidual Macrophages Is Associated With Recurrent Pregnancy Loss.
MNSFbeta Promotes the Proliferation and Migration of Human Extravillous Trophoblast Cells and the Villus Expression Level of MNSFbeta Is Decreased in Recurrent Miscarriage Patients.
Title: MNSFβ Promotes the Proliferation and Migration of Human Extravillous Trophoblast Cells and the Villus Expression Level of MNSFβ Is Decreased in Recurrent Miscarriage Patients.
FAU knockdown increased the plasma membrane targeting and function of F508del-CFTR, but not of wild-type CFTR. Investigation into the mechanism of action revealed a preferential physical interaction of FAU with mutant CFTR, leading to its degradation.
Title: High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.
The FAU rs769440 G allele had higher frequencies in patients with recurrent pregnancy loss.
Title: The association between polymorphisms of genes related to inflammation and recurrent pregnancy loss.
The C-terminal portion of the encoded protein displays antimicrobial activity against B. megaterium.
Title: Antimicrobial peptides in the first line defence of human colon mucosa.
In 293T/17 cells, Bcl-G knockdown also attenuates UV-induced apoptosis, so that Bcl-G may constitute a common factor in the pathways by which both FAU and UV-irradiation induce apoptosis
Title: Candidate tumour suppressor Fau regulates apoptosis in human cells: an essential role for Bcl-G.
siRNA-mediated downregulation of either Fau or Bcl-G expression inhibited apoptosis, and the inhibition produced by combining the two siRNAs was consistent with control of Bcl-G by Fau.
Title: Dysregulated expression of Fau and MELK is associated with poor prognosis in breast cancer.
data support a role for FAU in the regulation of platinum-resistance in ovarian cancer
Title: FAU regulates carboplatin resistance in ovarian cancer.
role in transforming osteogenic sarcoma cells to anchorage-independence
Title: fau and its ubiquitin-like domain (FUBI) transforms human osteogenic sarcoma (HOS) cells to anchorage-independence.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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
Rev	rev	HIV-1 Rev interacting protein, Finkel-Biskis-Reilly murine sarcoma virus ubiquitously expressed (FAU), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11613 (e-PCR)
- UniSTS:3933

G62092 (e-PCR)
- UniSTS:139105

FAU (e-PCR)
- UniSTS:50059

D11S1963 (e-PCR)
- UniSTS:4311

RH93189 (e-PCR)
- UniSTS:84193

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tag activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	HDA more info	PubMed
enables structural constituent of ribosome	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic translation	IC Inferred by Curator more info	PubMed
involved_in cytoplasmic translation	NAS Non-traceable Author Statement more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response in mucosa	IDA Inferred from Direct Assay more info	PubMed
involved_in modification-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	HDA more info	PubMed
part_of cytosolic small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement 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
part_of small ribosomal subunit	HDA more info	PubMed

General protein information

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Preferred Names: ubiquitin-like FUBI-ribosomal protein eS30 fusion protein

Names: 40S ribosomal protein S30; FAU ubiquitin-like and ribosomal protein S30; FAU-encoded ubiquitin-like protein; FBR-MuSV-associated ubiquitously expressed; Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); monoclonal nonspecific suppressor factor beta; ribosomal protein S30; small ribosomal subunit protein eS30; ubiquitin-like protein fubi and ribosomal protein S30; ubiquitin-like-S30 fusion protein

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_001997.5 → NP_001988.1 ubiquitin-like FUBI-ribosomal protein eS30 fusion protein precursor

See identical proteins and their annotated locations for NP_001988.1

Status: REVIEWED

Source sequence(s)

AA449261, BC033877, BU602831

Consensus CDS

CCDS8095.1

UniProtKB/Swiss-Prot

P35544, P62861, Q05472, Q95261, Q9H5V4

UniProtKB/TrEMBL

E9PM49

Related

ENSP00000435370.1, ENST00000529639.6

Conserved Domains (2) summary

cd01793
Location:1 → 74

Ubl_FUBI; ubiquitin-like (Ubl) domain found in ubiquitin-like protein FUBI and similar proteins

pfam04758
Location:75 → 132

Ribosomal_S30; Ribosomal protein S30