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MSL1 MSL complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 339287, updated on 13-Apr-2024

Summary

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Official Symbol
MSL1provided by HGNC
Official Full Name
MSL complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:27905
See related
Ensembl:ENSG00000188895 MIM:614801; AllianceGenome:HGNC:27905
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSL-1
Summary
Predicted to enable chromatin binding activity. Involved in histone H4-K16 acetylation. Located in nucleoplasm. Part of MSL complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 22.1), brain (RPKM 17.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40121971..40136917)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40985855..41000801)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38278224..38293170)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene thyroid hormone receptor alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12126 Neighboring gene Sharpr-MPRA regulatory region 6187 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38254986-38256185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38259215-38260094 Neighboring gene nuclear receptor subfamily 1 group D member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38262999-38263628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264065-38264599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264600-38265133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38266388-38267328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12130 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270115-38270902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270903-38271688 Neighboring gene uncharacterized LOC124904001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:38279065-38279703 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38296401-38297341 Neighboring gene CASC3 exon junction complex subunit Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38324317-38324876 Neighboring gene microRNA 6866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38332602-38333102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38333103-38333603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38333995-38334850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38334851-38335705 Neighboring gene Rap guanine nucleotide exchange factor like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12132 Neighboring gene microRNA 6867

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Shift in MSL1 alternative polyadenylation in response to DNA damage protects cancer cells from chemotherapeutic agent-induced apoptosis. Kunisky AK, et al. Cell Rep, 2021 Oct 12. PMID 34644577, Free PMC Article
  2. Deciphering the binding between Nupr1 and MSL1 and their DNA-repairing activity. Aguado-Llera D, et al. PLoS One, 2013. PMID 24205110, Free PMC Article
  3. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Basilicata MF, et al. Nat Genet, 2018 Oct. PMID 30224647, Free PMC Article
  4. Two distinct nuclear localization signals in mammalian MSL1 regulate its function. Dmitriev RI, et al. J Cell Biochem, 2014 Nov. PMID 24913909
  5. A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. Smith ER, et al. Mol Cell Biol, 2005 Nov. PMID 16227571, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Shift in MSL1 alternative polyadenylation in response to DNA damage protects cancer cells from chemotherapeutic agent-induced apoptosis.
    Title: Shift in MSL1 alternative polyadenylation in response to DNA damage protects cancer cells from chemotherapeutic agent-induced apoptosis.
  2. Studies identi fi ed a novel signal of nuclear localization (NLS) in all MSL1 protein isoforms and found that the combination of both NLS allows for its intra-nuclear focal accumulation and nuclear transport of TTC4 while all MSL1 isoforms affect H4K16Ac.
    Title: Two distinct nuclear localization signals in mammalian MSL1 regulate its function.
  3. The MSL1 bound to Nupr1, with a moderate affinity (2.8 microM) in an entropically-driven process. MSL1 did not bind to non-damaged DNA, but it bound to chemically-damaged-DNA with a moderate affinity (1.2 microM) also in an entropically-driven process.
    Title: Deciphering the binding between Nupr1 and MSL1 and their DNA-repairing activity.
  4. MSL1 plays an important role in mediating irradiation-induced DNA repair through formation of HAT complexes and interaction with 53BP1. P8 acts as a negative regulator of this process by interacting with MSL1 and preventing its role on HAT activity.
    Title: p8/nupr1 regulates DNA-repair activity after double-strand gamma irradiation-induced DNA damage.
  5. A multisubunit human histone acetylase complex that contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin A), MSL2, and MSL3 was described. This complex is responsible for histone H4 lysine-16 acetylation of all cellular chromosomes.
    Title: A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC141861, DKFZp686J17211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
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 
located_in nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
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

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Preferred Names
male-specific lethal 1 homolog
Names
MSL1-like 1
male specific lethal 1 homolog
male-specific lethal 1-like 1
male-specific lethal-1 homolog 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001012241.2 → NP_001012241.1  male-specific lethal 1 homolog isoform 1

    See identical proteins and their annotated locations for NP_001012241.1

    Status: VALIDATED

    Source sequence(s)
    AC068669, AK125654, BC122543, BX647188, R23466
    Consensus CDS
    CCDS45670.1
    UniProtKB/Swiss-Prot
    Q68DK7
    UniProtKB/TrEMBL
    B3KWR7
    Related
    ENSP00000462945.1, ENST00000579565.5
    Conserved Domains (1) summary
    pfam15275
    Location:210 → 328
    PEHE; PEHE domain

  2. NM_001365919.1 → NP_001352848.1  male-specific lethal 1 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC068669
    Consensus CDS
    CCDS92297.1
    UniProtKB/Swiss-Prot
    Q0VF46, Q68DK7, Q69Z03
    Related
    ENSP00000381543.3, ENST00000398532.9
    Conserved Domains (2) summary
    PTZ00108
    Location:243 → 429
    PTZ00108; DNA topoisomerase 2-like protein; Provisional
    pfam15275
    Location:473 → 591
    PEHE; PEHE domain

  3. NM_001365920.1 → NP_001352849.1  male-specific lethal 1 homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC068669
    Consensus CDS
    CCDS92298.1
    UniProtKB/TrEMBL
    J3KSZ8
    Related
    ENSP00000462731.1, ENST00000578648.5
    Conserved Domains (2) summary
    PTZ00108
    Location:243 → 485
    PTZ00108; DNA topoisomerase 2-like protein; Provisional
    pfam15275
    Location:459 → 575
    PEHE; PEHE domain

  4. NM_001365921.2 → NP_001352850.1  male-specific lethal 1 homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC068669
    Consensus CDS
    CCDS92299.1
    UniProtKB/TrEMBL
    J3QQY0
    Related
    ENSP00000463949.1, ENST00000577454.5
    Conserved Domains (1) summary
    cl25574
    Location:243 → 429
    TOP2c; TopoisomeraseII

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40121971..40136917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40985855..41000801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68DK7.3 GenPept UniProtKB/Swiss-Prot:Q68DK7

Gene LinkOut

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