SFMBT1 - Scm like with four mbt domains 1 Gene

Homo sapiens

Also known as RU1; SFMBT; hSFMBT

Gene ID: 51460 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12767	SFMBT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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