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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51460
Gene name Gene Name - the full gene name approved by the HGNC.	Scm like with four mbt domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SFMBT1
Synonyms (NCBI Gene) Gene synonyms aliases	RU1, SFMBT, hSFMBT
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

Show/Hide all(71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029891	hsa-miR-26b-5p	Microarray	19088304
MIRT052054	hsa-let-7b-5p	CLASH	23622248
MIRT050135	hsa-miR-26a-5p	CLASH	23622248
MIRT1341601	hsa-miR-1252	CLIP-seq
MIRT1341602	hsa-miR-142-5p	CLIP-seq
MIRT1341603	hsa-miR-340	CLIP-seq
MIRT1341604	hsa-miR-3616-3p	CLIP-seq
MIRT1341605	hsa-miR-4252	CLIP-seq
MIRT1341606	hsa-miR-4264	CLIP-seq
MIRT1341607	hsa-miR-4422	CLIP-seq
MIRT1341608	hsa-miR-4476	CLIP-seq
MIRT1341609	hsa-miR-4722-3p	CLIP-seq
MIRT1341610	hsa-miR-4797-3p	CLIP-seq
MIRT1341611	hsa-miR-619	CLIP-seq
MIRT1341612	hsa-miR-875-3p	CLIP-seq
MIRT1341613	hsa-let-7a	CLIP-seq
MIRT1341614	hsa-let-7b	CLIP-seq
MIRT1341615	hsa-let-7c	CLIP-seq
MIRT1341616	hsa-let-7d	CLIP-seq
MIRT1341617	hsa-let-7e	CLIP-seq
MIRT1341618	hsa-let-7f	CLIP-seq
MIRT1341619	hsa-let-7g	CLIP-seq
MIRT1341620	hsa-let-7i	CLIP-seq
MIRT1341621	hsa-miR-1205	CLIP-seq
MIRT1341622	hsa-miR-1225-3p	CLIP-seq
MIRT1341623	hsa-miR-1238	CLIP-seq
MIRT1341624	hsa-miR-1264	CLIP-seq
MIRT1341625	hsa-miR-1283	CLIP-seq
MIRT1341626	hsa-miR-196a	CLIP-seq
MIRT1341627	hsa-miR-196b	CLIP-seq
MIRT1341628	hsa-miR-30a	CLIP-seq
MIRT1341629	hsa-miR-30b	CLIP-seq
MIRT1341630	hsa-miR-30c	CLIP-seq
MIRT1341631	hsa-miR-30d	CLIP-seq
MIRT1341632	hsa-miR-30e	CLIP-seq
MIRT1341633	hsa-miR-3689a-3p	CLIP-seq
MIRT1341634	hsa-miR-3689c	CLIP-seq
MIRT1341635	hsa-miR-421	CLIP-seq
MIRT1341636	hsa-miR-4257	CLIP-seq
MIRT1341637	hsa-miR-4323	CLIP-seq
MIRT1341638	hsa-miR-4458	CLIP-seq
MIRT1341639	hsa-miR-4500	CLIP-seq
MIRT1341640	hsa-miR-4709-5p	CLIP-seq
MIRT1341641	hsa-miR-4728-5p	CLIP-seq
MIRT1341642	hsa-miR-4759	CLIP-seq
MIRT1341643	hsa-miR-98	CLIP-seq
MIRT1341644	hsa-miR-125a-3p	CLIP-seq
MIRT1341645	hsa-miR-3665	CLIP-seq
MIRT1341646	hsa-miR-651	CLIP-seq
MIRT1341647	hsa-miR-657	CLIP-seq
MIRT2101146	hsa-miR-190	CLIP-seq
MIRT2101147	hsa-miR-190b	CLIP-seq
MIRT1341635	hsa-miR-421	CLIP-seq
MIRT2101148	hsa-miR-4633-5p	CLIP-seq
MIRT2101149	hsa-miR-4677-3p	CLIP-seq
MIRT1341640	hsa-miR-4709-5p	CLIP-seq
MIRT2101150	hsa-miR-532-5p	CLIP-seq
MIRT2101151	hsa-miR-595	CLIP-seq
MIRT1341613	hsa-let-7a	CLIP-seq
MIRT1341614	hsa-let-7b	CLIP-seq
MIRT1341615	hsa-let-7c	CLIP-seq
MIRT1341616	hsa-let-7d	CLIP-seq
MIRT1341617	hsa-let-7e	CLIP-seq
MIRT1341618	hsa-let-7f	CLIP-seq
MIRT1341619	hsa-let-7g	CLIP-seq
MIRT1341620	hsa-let-7i	CLIP-seq
MIRT1341636	hsa-miR-4257	CLIP-seq
MIRT1341638	hsa-miR-4458	CLIP-seq
MIRT1341639	hsa-miR-4500	CLIP-seq
MIRT2325556	hsa-miR-628-5p	CLIP-seq
MIRT1341643	hsa-miR-98	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	23592795
GO:0005515	Function	Protein binding	IPI	16189514, 17599839, 23592795, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17599839
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	17599839, 23592795
GO:0042393	Function	Histone binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	23592795
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	17599839, 23349461
GO:0048635	Process	Negative regulation of muscle organ development	IMP	23349461

MIM	HGNC	e!Ensembl
607319	20255	ENSG00000163935

Protein

UniProt ID

Q9UHJ3

Protein name

Scm-like with four MBT domains protein 1 (hSFMBT) (Renal ubiquitous protein 1)

Protein function

Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: require

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02820	MBT	54 → 124	mbt repeat	Domain
PF02820	MBT	167 → 236	mbt repeat	Domain
PF02820	MBT	279 → 352	mbt repeat	Domain
PF02820	MBT	388 → 457	mbt repeat	Domain
PF12140	SLED	502 → 617	SLED domain	Domain
PF00536	SAM_1	794 → 857	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all cell lines and normal tissues tested, including the thymus. {ECO:0000269|PubMed:10661410}.

Sequence

MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAV
RTDPETYWVATVITTCEQLLLLRYDGYGEDRRADFWCDIRKADLYPIGWCEQNKKTLEAP
EGIRDKVSDWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTW
IVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSAIRHLKN
EAEWQEILAKVKEEEEEPLPSYLFKDKQVIGIHTFSVNMKLEAVDPWSPFGISPATVVKV
FDEKYFLVEMDDLRPENHARRSFVCHADSPGIFPVQWSLKNGLHISPPPGYPSQDFDWAD
YLKQCGAEAAPQRCFPPLISEHEFKENMKLEAVNPILPEEVCVATITAVRGSYLWLQLEG
SKKPIPECIVSVESMDIFPLGWCETNGHPLSTPRRARVYKQRKIAVVQPEKQVPSSRTVH
EGLRNQELNSTESVMINGKYCCPKIYFNHRCFSGPYLNKGRIAELPQCVGPGNCVLVLRE
VLTLLINAAYKPSRVLRELQLDKDSVWHGCGEVLKAKYKGKSYRATVEIVKTADRVTEFC
RQTCIKLECCPNLFGPRMVLDKCSENCSVLTKTKYTHYYGKKKNKRIGRPPGGHSNLACA
LKKASKRRKRRKNVFVHKKKRSSASVDNTPAGSPQGSGGEDEDDPDEGDDDSLSEGSTSE
QQDELQEESEMSEKKSCSSSPTQSEISTSLPPDRQRRKRELRTFSFSDDENKPPSPKEIR
IEVAERLHLDSNPLKWSVADVVRFIRSTDCAPLARIFLDQEIDGQALLLLTLPTVQECMD
LKLGPAIKLCHHIERIKFAFYEQFAN

Sequence length

866

Interactions

View interactions

	KEGG
	Polycomb repressive complex

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Hyperuricemia	Hyperuricemia	N/A	N/A	GWAS
Kidney Disease	Chronic kidney disease	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Neoplasms	Associate	23928305
Carcinogenesis	Associate	33481017
Carcinoma Renal Cell	Associate	22483639
Colorectal Neoplasms	Associate	33481017
Hydrocephalus	Associate	21325761
Hydrocephalus Normal Pressure	Associate	21325761, 27861535
Hypertension	Associate	22479346
Inflammatory Bowel Diseases	Associate	25766683
Neoplasms	Associate	23928305
Poland Syndrome	Associate	35483874
Uterine Cervical Neoplasms	Associate	27285984

SFMBT1 (Scm like with four mbt domains 1)