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SFMBT1 - Scm like with four mbt domains 1 Gene

Also Known as RU1; SFMBT; hSFMBT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51460

About SFMBT1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,903,572-53,046,073 (from NCBI)

This gene has 8 transcripts (splice variants), 229 orthologues and 18 paralogues. Broad expression in testis (RPKM 14.1), kidney (RPKM 2.6) and 24 other tissues.

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]

SFMBT1 Products (1)

mRNA	Protein	Name
NM_016329.4	NP_057413.2	scm-like with four MBT domains protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables histone binding	IDA IDA: Inferred from direct assay	17599839	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	23592795	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	17599839	GOA
involved in negative regulation of muscle organ development	IMP IMP: Inferred from mutant phenotype	23349461	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in nucleus	IDA IDA: Inferred from direct assay	17599839	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SFMBT1 Protein Structure

MBT

SLED

SAM_1

0
200
400
600
800
866 a.a.

Protein Preferred Names	Protein Names
scm-like with four MBT domains protein 1	Scm-related gene containing four mbt domains

SFMBT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SFMBT1	Q9UHJ3	H3-4	Homo sapiens	Q16695	Pull Down	17599839
Intra	SFMBT1	Q9UHJ3	H3-4	Homo sapiens	Q16695	Anti Tag CoIP	17599839
Intra	SFMBT1	Q9UHJ3	ZCCHC10	Homo sapiens	Q8TBK6	Validated Y2H	25416956
Intra	SFMBT1	Q9UHJ3	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Array	25416956
Intra	SFMBT1	Q9UHJ3	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Prey Pooling	25416956
Intra	SFMBT1	Q9UHJ3	PHC2	Homo sapiens	Q8IXK0	Y2H Array	25416956
Intra	SFMBT1	Q9UHJ3	PHC2	Homo sapiens	Q8IXK0	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Scrotum Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Scrotum Scrotal Squamous Cell Carcinoma
Chromosome 20q11-Q12 Deletion Syndrome	Intellectual Developmental Disorder, Autosomal Dominant 11 Autosomal Dominant Non-Syndromic Intellectual Disability 11 MRD11 Intellectual Developmental Disorder, Autosomal Dominant 11, Included Mrd11, Included Mental Retardation, Autosomal Dominant 11, Included Autosomal Dominant Intellectual Developmental Disorder 11 Autosomal Dominant Mental Retardation 11 Mental Retardation, Autosomal Dominant, Type 11
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Scrotal Carcinoma	Carcinoma Of Scrotum Malignant Neoplasm Of Scrotum Neoplasm Of Scrotum
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	MARCH Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome Hydranencephaly With Renal Aplasia-Dysplasia March Syndrome
Poland Syndrome	Poland Anomaly Poland Sequence Poland Syndactyly Poland'S Syndrome Poland'S Anomaly Poland'S Syndactyly Acro-Pectoro-Renal Field Defect Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
Communicating Hydrocephalus	Acquired Communicating Hydrocephalus
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12767	SFMBT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SFMBT1	MGD	MGI:1859609
Felis catus	SFMBT1	VGNC	VGNC:65061
Canis familiaris	SFMBT1	VGNC	VGNC:46076
Bos taurus	SFMBT1	VGNC	VGNC:34515
Rattus norvegicus	SFMBT1	RGD	RGD:61999
Macaca mulatta	SFMBT1	VGNC	VGNC:77279
Others	SFMBT1	NCBI