1. Gene
  2. SFMBT1 - Scm like with four mbt domains 1 Gene

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

MBT: mbt repeat (54 - 126)

MBT

MBT: mbt repeat (167 - 237)

MBT

MBT: mbt repeat (279 - 356)

MBT

MBT: mbt repeat (388 - 459)

SLED

SLED: SLED domain (501 - 618)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (795 - 857)

  • 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 Reference
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

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