MSL3 - MSL complex subunit 3 Gene

Also Known as MRSXBA; MRXS36; MRXSBA; MSL3L1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10943

About MSL3

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,758,159-11,775,772 (from NCBI)

This gene has 50 transcripts (splice variants), 234 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 13.7), appendix (RPKM 11.8) and 24 other tissues.

Summary

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]

MSL3 Products (5)

mRNA	Protein	Name
NM_001193270.2	NP_001180199.1	male-specific lethal 3 homolog isoform e
NM_001282174.1	NP_001269103.1	male-specific lethal 3 homolog isoform f
NM_006800.4	NP_006791.2	male-specific lethal 3 homolog isoform c
NM_078628.2	NP_523352.1	male-specific lethal 3 homolog isoform d
NM_078629.4	NP_523353.2	male-specific lethal 3 homolog isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA binding	IDA IDA: Inferred from direct assay	20657587	GOA
enables histone reader activity	IDA IDA: Inferred from direct assay	20657587	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	20657587	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30224647	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20657587	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	30224647	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of MSL complex	IDA IDA: Inferred from direct assay	20018852	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16227571	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

MSL3 Protein Structure

Tudor-knot

MRG

0
100
200
300
400
521 a.a.

Protein Preferred Names	Protein Names
male-specific lethal 3 homolog	MSL3-like 1

MSL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MSL3	Q8N5Y2	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	MSL3	Q8N5Y2	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	MSL3	Q8N5Y2	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Basilicata-Akhtar Syndrome	Mrxs36 MRXSBA Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type Mental Retardation, X-Linked, Syndromic 36 X-Linked Syndromic Mental Retardation 36 X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type
Non-Syndromic X-Linked Intellectual Disability 107	Mrx107 X-Linked Mental Retardation 107
Spastic Paraplegia 16, X-Linked	SPG16 Hereditary Spastic Paraplegia 16 X-Linked Spastic Paraplegia Type 16 Spastic Paraplegia 16, X-Linked, Complicated X-Linked Spastic Paraplegia 16 Spastic Paraplegia 16 Spastic Paraplegia-16, X-Linked, Complicated
Atrial Septal Defect 3	ASD3 Atrial Heart Septal Defect 3 Septal Defect, Atrial, Type 3
Spastic Paraplegia 12, Autosomal Dominant	SPG12 Hereditary Spastic Paraplegia 12 Autosomal Dominant Spastic Paraplegia Type 12 Autosomal Dominant Spastic Paraplegia 12 Spastic Paraplegia 12 Spastic Paraplegia-12 Paraplegia, Spastic, Autosomal Dominant, Type 12
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc

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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08718	MSL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20775	Msl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27289	Msl3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MSL3	RGD	RGD:1549763
Macaca mulatta	MSL3	VGNC	VGNC:105245
Mus musculus	MSL3	MGD	MGI:1341851
Canis familiaris	MSL3	VGNC	VGNC:54173
Others	MSL3	NCBI