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MSL3 MSL complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 10943, updated on 27-Jun-2020

Summary

Official Symbol
MSL3provided by HGNC
Official Full Name
MSL complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:7370
See related
Ensembl:ENSG00000005302 MIM:300609
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRSXBA; MRXS36; MRXSBA; MSL3L1
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]
Expression
Ubiquitous expression in lymph node (RPKM 13.7), appendix (RPKM 11.8) and 24 other tissues See more
Orthologs

Genomic context

See MSL3 in Genome Data Viewer
Location:
Xp22.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (11758159..11775772)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11776278..11793872)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373131 Neighboring gene Sharpr-MPRA regulatory region 2065 Neighboring gene LIMK2 pseudogene 1 Neighboring gene FERM and PDZ domain containing 4 Neighboring gene ribosomal protein L17 pseudogene 49 Neighboring gene RN7SK pseudogene 290

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586J1822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase activity (H4-K16 specific) IMP
Inferred from Mutant Phenotype
more info
PubMed 
methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chromatin silencing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K16 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4-K16 acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone deacetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
MSL complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MSL complex IDA
Inferred from Direct Assay
more info
PubMed 
NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012564.1 RefSeqGene

    Range
    5079..22614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193270.2NP_001180199.1  male-specific lethal 3 homolog isoform e

    See identical proteins and their annotated locations for NP_001180199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The resulting isoform (e) has a distinct N-terminus and is 12 aa shorter than isoform a.
    Source sequence(s)
    AK300814, BC031210, DA172776, DC395802
    Consensus CDS
    CCDS55369.1
    UniProtKB/Swiss-Prot
    Q8N5Y2
    Related
    ENSP00000381538.2, ENST00000398527.7
    Conserved Domains (3) summary
    smart00298
    Location:2466
    CHROMO; Chromatin organization modifier domain
    pfam05712
    Location:145494
    MRG; MRG
    pfam12258
    Location:297401
    Microcephalin; Microcephalin protein
  2. NM_001282174.1NP_001269103.1  male-specific lethal 3 homolog isoform f

    See identical proteins and their annotated locations for NP_001269103.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The resulting isoform (f) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AF117065, AK294255, AL713667
    Consensus CDS
    CCDS65213.1
    UniProtKB/Swiss-Prot
    Q8N5Y2
    Related
    ENSP00000354562.2, ENST00000361672.6
    Conserved Domains (2) summary
    pfam05712
    Location:4357
    MRG; MRG
    pfam12258
    Location:160264
    Microcephalin; Microcephalin protein
  3. NM_006800.4NP_006791.2  male-specific lethal 3 homolog isoform c

    See identical proteins and their annotated locations for NP_006791.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (c) is 166 aa shorter shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC004554, AK025642, CT002798, DA961602
    Consensus CDS
    CCDS14149.1
    UniProtKB/Swiss-Prot
    Q8N5Y2
    Related
    ENSP00000498017.1, ENST00000649078.1
    Conserved Domains (2) summary
    pfam05712
    Location:6340
    MRG; MRG
    pfam12258
    Location:143247
    Microcephalin; Microcephalin protein
  4. NM_078628.1NP_523352.1  male-specific lethal 3 homolog isoform d

    See identical proteins and their annotated locations for NP_523352.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (d) has a distinct C-terminus and is 105 aa shorter than isoform a.
    Source sequence(s)
    AF117065, AK000793, AK289780, DB240082
    Consensus CDS
    CCDS14148.1
    UniProtKB/Swiss-Prot
    Q8N5Y2
    Related
    ENSP00000338078.2, ENST00000337339.7
    Conserved Domains (3) summary
    pfam05712
    Location:157289
    MRG; MRG
    pfam11717
    Location:1473
    Tudor-knot; RNA binding activity-knot of a chromodomain
    pfam12258
    Location:309392
    Microcephalin; Microcephalin protein
  5. NM_078629.4NP_523353.2  male-specific lethal 3 homolog isoform a

    See identical proteins and their annotated locations for NP_523353.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC004554, AF117065, BC031210
    Consensus CDS
    CCDS14147.1
    UniProtKB/Swiss-Prot
    Q8N5Y2
    Related
    ENSP00000312244.4, ENST00000312196.10
    Conserved Domains (3) summary
    pfam05712
    Location:157506
    MRG; MRG
    pfam11717
    Location:1473
    Tudor-knot; RNA binding activity-knot of a chromodomain
    pfam12258
    Location:309413
    Microcephalin; Microcephalin protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    11758159..11775772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_078630.1: Suppressed sequence

    Description
    NM_078630.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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