Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2483
Gene name Gene Name - the full gene name approved by the HGNC.	FSHD region gene 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FRG1
Synonyms (NCBI Gene) Gene synonyms aliases	FRG1A, FSG1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA seque

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005215	hsa-miR-30a-5p	pSILAC	18668040
MIRT023829	hsa-miR-1-3p	Proteomics	18668040
MIRT005215	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1004374	hsa-miR-124	CLIP-seq
MIRT1004375	hsa-miR-3714	CLIP-seq
MIRT1004376	hsa-miR-3910	CLIP-seq
MIRT1004377	hsa-miR-4668-3p	CLIP-seq
MIRT1004378	hsa-miR-506	CLIP-seq
MIRT1004379	hsa-miR-548c-3p	CLIP-seq
MIRT1004380	hsa-miR-605	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IEA
GO:0030018	Component	Z disc	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0055120	Component	Striated muscle dense body	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
601278	3954	ENSG00000109536

Protein

UniProt ID

Q14331

Protein name

Protein FRG1 (FSHD region gene 1 protein)

Protein function

Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differen

PDB

6ZYM , 7A5P , 8I0W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06229	FRG1	67 → 256	FRG1-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis. {ECO:0000269|PubMed:20970242}.

Sequence

MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTI
AIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGIN
SDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKI
RSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFL
HETLLDRRAKLKADRYCK

Sequence length

258

Interactions

View interactions

FRG1 (FSHD region gene 1)