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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	119392
Gene name	SWI5 dependent homologous recombination repair protein 1
Gene symbol	SFR1
Synonyms (NCBI Gene)	C10orf78MEI5MEIR5bA373N18.1
Chromosome	10
Chromosome location	10q25.1

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024791	hsa-miR-215-5p	Microarray	19074876
MIRT026334	hsa-miR-192-5p	Microarray	19074876
MIRT663076	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT663075	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT663073	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT663074	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT663072	hsa-miR-4459	HITS-CLIP	23824327
MIRT663071	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT663070	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT663069	hsa-miR-544b	HITS-CLIP	23824327
MIRT663068	hsa-miR-7162-3p	HITS-CLIP	23824327
MIRT663067	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT663066	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT663065	hsa-miR-3926	HITS-CLIP	23824327
MIRT663064	hsa-miR-548s	HITS-CLIP	23824327
MIRT663076	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT663075	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT663073	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT663074	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT663072	hsa-miR-4459	HITS-CLIP	23824327
MIRT663071	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT663070	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT663069	hsa-miR-544b	HITS-CLIP	23824327
MIRT663068	hsa-miR-7162-3p	HITS-CLIP	23824327
MIRT663067	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT663066	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT663065	hsa-miR-3926	HITS-CLIP	23824327
MIRT663064	hsa-miR-548s	HITS-CLIP	23824327

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	21252223
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	23874500
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005515	Function	Protein binding	IPI	21252223, 23874500, 25416956, 31515488, 33961781
GO:0005634	Component	Nucleus	IDA	23874500
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005813	Component	Centrosome	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0032798	Component	Swi5-Sfr1 complex	IBA
GO:0032798	Component	Swi5-Sfr1 complex	IDA	21252223
GO:0032798	Component	Swi5-Sfr1 complex	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	23874500
GO:0071391	Process	Cellular response to estrogen stimulus	IDA	23874500

MIM	HGNC	e!Ensembl
616527	29574	ENSG00000156384

Q86XK3

Protein name

Swi5-dependent recombination DNA repair protein 1 homolog (Meiosis protein 5 homolog)

Protein function

Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500). {ECO:0000269|PubMed:21252223, ECO:0000269|PubMe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10376	Mei5	25 → 236	Double-strand recombination repair protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:21252223}.

Sequence

MAEGEKNQDFTFKMESPSDSAVVLPSTPQASANPSSPYTNSSRKQPMSATLRERLRKTRF
SFNSSYNVVKRLKVESEENDQTFSEKPASSTEENCLEFQESFKHIDSEFEENTNLKNTLK
NLNVCESQSLDSGSCSALQNEFVSEKLPKQRLNAEKAKLVKQVQEKEDLLRRLKLVKMYR
SKNDLSQLQLLIKKWRSCSQLLLYELQSAVSEENKKLSLTQLIDHYGLDDKLLHYNRSEE
EFIDV

Sequence length

245

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PREECLAMPSIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	23874500	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23874500	★★★★★ ★☆☆☆☆ Found in Text Mining only

SFR1 (SWI5 dependent homologous recombination repair protein 1)