U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 10943, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:7370
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MSL3 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (11758159..11775772)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (11340708..11358321)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11776278..11793891)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20661 Neighboring gene Sharpr-MPRA regulatory region 2065 Neighboring gene MSL3 divergent transcript Neighboring gene FERM and PDZ domain containing 4 Neighboring gene MPRA-validated peak7357 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:12327767-12328270 Neighboring gene FRMPD4 antisense RNA 1 Neighboring gene ribosomal protein L17 pseudogene 49

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Basilicata-Akhtar syndrome
    MedGen: C5231394 OMIM: 301032 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-23)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp586J1822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MSL complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of MSL complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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  MSL complex subunit 3 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/TrEMBL
      A0A3B3IT59
      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  MSL complex subunit 3 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/TrEMBL
      A0A3F2YNX2
      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  MSL complex subunit 3 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/TrEMBL
      A0A3F2YNX2
      Related
      ENSP00000498017.1, ENST00000649078.1
      Conserved Domains (2) summary
      pfam05712
      Location:6340
      MRG
      pfam12258
      Location:143247
      Microcephalin; Microcephalin protein
    4. NM_078628.2NP_523352.1  MSL complex subunit 3 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/TrEMBL
      A0A3B3ITF3
      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  MSL complex subunit 3 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
      A6NCU2, A6NHW8, A8K165, B4DUV8, B7Z227, Q8N5Y2, Q9UG70, Q9Y5Z8
      UniProtKB/TrEMBL
      A0A3B3IT59
      Related
      ENSP00000312244.4, ENST00000312196.10
      Conserved Domains (2) summary
      cd18983
      Location:1581
      CBD_MSL3_like; chromo barrel domain of human male-specific lethal complex subunit 3, and similar proteins
      pfam05712
      Location:156506
      MRG

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      11340708..11358321
      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.