MBTD1 - mbt domain containing 1 Gene

Homo sapiens

Also known as SA49P01

Gene ID: 54799 | Gene type: protein coding

About MBTD1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:51,177,425-51,260,958 (from NCBI)

This gene has 7 transcripts (splice variants), 258 orthologues and 18 paralogues. Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues.

Summary

Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

MBTD1 Products(1)

mRNA	Protein	Name
NM_017643.3	NP_060113.2	MBT domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables NuA4 histone acetyltransferase complex binding	IDA IDA: Inferred from direct assay	32209463	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	27153538	GOA
enables methylated histone binding	IMP IMP: Inferred from mutant phenotype	19841675	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27153538	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27153538	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	27153538	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of NuA4 histone acetyltransferase complex	IDA IDA: Inferred from direct assay	27153538	GOA
part of nucleosome	IDA IDA: Inferred from direct assay	27153538	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	27153538	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

MBTD1 Protein Structure

MBT

0
100
200
300
400
500
628 a.a.

Protein Preferred Names

Protein Names

MBT domain-containing protein 1

MBTD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MBTD1	Q05BQ5	H4C16	Homo sapiens	P62805	Pull Down	27153538
Intra	MBTD1	Q05BQ5	EPC1	Homo sapiens	Q9H2F5	Anti Tag CoIP	27153538
Intra	MBTD1	Q05BQ5	EPC1	Homo sapiens	Q9H2F5	Pull Down	27153538

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Endometrial Stromal Nodule

Endometrial Stromal Tumor

Endometrial Stromal Neoplasm

Endometrial Stromal Tumors

Myxoid Leiomyosarcoma

Leiomyosarcoma, Myxoid

Endometrial Stromal Sarcoma

Ess	Endometrial Stromal Sarcoma, High Grade
Undifferentiated Endometrial Sarcoma	Stromal Sarcoma Of The Corpus Uteri
Sarcoma Endometrial Stromal	Sarcoma, Endometrial Stromal
Undifferentiated Stromal Sarcoma

Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma

N Syndrome

NSX	Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

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-RS08197	MBTD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MBTD1	VGNC	VGNC:31290
Felis catus	MBTD1	VGNC	VGNC:63407
Mus musculus	MBTD1	MGD	MGI:2143977
Canis familiaris	MBTD1	VGNC	VGNC:43063
Rattus norvegicus	MBTD1	RGD	RGD:1592427
Macaca mulatta	MBTD1	VGNC	VGNC:74538

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