SFMBT1 (Scm like with four mbt domains 1)

Gene

• Entrez ID: 51460
• Gene name: Scm like with four mbt domains 1
• Gene symbol: SFMBT1
• Synonyms (NCBI Gene): RU1, SFMBT, hSFMBT
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: 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]

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607319
• HGNC: 20255
• e!Ensembl: 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

Pathways

KEGG:

Polycomb repressive complex

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	31578528		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23928305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33481017	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22483639	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27285984		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27285984		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33481017	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22483639		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	31578528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	26432191		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	21325761	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	21325761, 27861535	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22479346	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22479346		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25766683	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	23928305		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23928305		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27285984		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22483639		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	23128233, 26192919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27285984	Associate	★☆☆☆☆ Found in Text Mining only