FUBP3 far upstream element binding protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FUBP3provided by HGNC
Official Full Name: far upstream element binding protein 3provided by HGNC
Primary source: HGNC:HGNC:4005
See related: Ensembl:ENSG00000107164 MIM:603536; AllianceGenome:HGNC:4005
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FBP3
Summary: Enables single-stranded DNA binding activity. Involved in DNA-templated transcription; positive regulation of DNA-templated transcription; and positive regulation of gene expression. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 15.5), brain (RPKM 11.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11-q34.12

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (130579577..130638352)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (142784549..142843289)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (133454964..133513739)

Chromosome 9 - NC_000009.12 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
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?

FUBP3 regulates chronic myeloid leukaemia progression through PRC2 complex regulated PAK1-ERK signalling.
Title: FUBP3 regulates chronic myeloid leukaemia progression through PRC2 complex regulated PAK1-ERK signalling.
Long noncoding RNA CMPK2 promotes colorectal cancer progression by activating the FUBP3-c-Myc axis.
Title: Long noncoding RNA CMPK2 promotes colorectal cancer progression by activating the FUBP3-c-Myc axis.
The redistribution of FBP3 in subcellular compartments was observed after Enterovirus 71 (EV71) infection, and the decreased expression of FBP3 in host neuronal cells markedly inhibited viral replication. The results reveal various host proteins that potentially interact with the EV71 5'UTR in neuronal cells, and study found that FBP3 could serve as a positive regulator in host cells.
Title: Interactome analysis of the EV71 5' untranslated region in differentiated neuronal cells SH-SY5Y and regulatory role of FBP3 in viral replication.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
study found that FBP1 as well as FBP3 are more frequently expressed in prostate and bladder cancer than in renal cancer; in addition, a positive correlation between levels of FBP1, FBP3 and c-Myc was exclusively detectable in renal cell carcinomas
Title: The FUSE binding proteins FBP1 and FBP3 are potential c-myc regulators in renal, but not in prostate and bladder cancer.

Submit: New GeneRIF Correction

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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. 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

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-142433 (e-PCR)
- UniSTS:184889

L18426 (e-PCR)
- UniSTS:34648

L17971 (e-PCR)
- UniSTS:43966

D9S1863 (e-PCR), detects polymorphism
- UniSTS:80331

G63720 (e-PCR)
- UniSTS:140751

RH94097 (e-PCR)
- UniSTS:86483

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular mRNA localization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	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 regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation 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 nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in ribosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: far upstream element-binding protein 3

Names: FUSE-binding protein 3; far upstream element (FUSE) binding protein 3

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_003934.2 → NP_003925.1 far upstream element-binding protein 3

See identical proteins and their annotated locations for NP_003925.1

Status: VALIDATED

Source sequence(s)

AL537190, BC001325, BI461266, U69127

Consensus CDS

CCDS43893.1

UniProtKB/Swiss-Prot

A3KFK8, A3KFL0, Q92946, Q96I24, Q9BVB6

Related

ENSP00000318177.9, ENST00000319725.10

Conserved Domains (1) summary

cl00098
Location:159 → 241

KH-I; K homology (KH) RNA-binding domain, type I

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

130579577..130638352

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005272232.3 → XP_005272289.1 far upstream element-binding protein 3 isoform X1

See identical proteins and their annotated locations for XP_005272289.1

Conserved Domains (1) summary

cl00098
Location:159 → 241

KH-I; K homology (KH) RNA-binding domain, type I
XM_011519172.4 → XP_011517474.1 far upstream element-binding protein 3 isoform X2

Conserved Domains (2) summary

smart00322
Location:161 → 232

KH; K homology RNA-binding domain

cd00105
Location:79 → 141

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

RNA

XR_007061369.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

142784549..142843289

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364134.1 → XP_054220109.1 far upstream element-binding protein 3 isoform X1
XM_054364135.1 → XP_054220110.1 far upstream element-binding protein 3 isoform X2