1. Gene
  2. MSL3 - MSL complex subunit 3 Gene

MSL3 - MSL complex subunit 3 Gene

Homo sapiens

Also known as MRSXBA; MRXS36; MRXSBA; MSL3L1

Gene ID: 10943 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Tudor-knot: RNA binding activity-knot of a chromodomain (13 - 71)

MRG

MRG: MRG (156 - 504)

  • 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 Reference
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

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