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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MSL1 Gene

protein-coding   GIFtS: 45
GCID: GC17P038278

Male-Specific Lethal 1 Homolog (Drosophila)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Male-Specific Lethal 1 Homolog (Drosophila)1 2     MSL1-Like 12 3
Male-Specific Lethal 1-Like 12 3     hMSL12
Male-Specific Lethal-1 Homolog 12 3     Male-Specific Lethal 1 Homolog2
MSL-12 3     MSL1L13

External Ids:    HGNC: 279051   Entrez Gene: 3392872   Ensembl: ENSG000001888957   OMIM: 6148015   UniProtKB: Q68DK73   

Export aliases for MSL1 gene to outside databases

Previous GC identifers: GC17P035533 GC17P034072


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MSL1 Gene: 
MSL1 (male-specific lethal 1 homolog (Drosophila)) is a protein-coding gene. Diseases associated with MSL1 include colorectal cancer, and pancreatic cancer.

UniProtKB/Swiss-Prot: MSL1_HUMAN, Q68DK7
Function: Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at
'Lys-16' (H4K16ac) which is implicated in the formation of higher-order chromatin structure. Greatly enhances
MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub). This
modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to
gene activation, including that of HOXA9 and MEIS1




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MSL1 gene promoter:
         Pax-2   Olf-1   Pax-2a   POU6F1 (c2)   CBF-C   CBF-A   CBF-B   HOXA5   CP1A   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MSL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MSL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.1   Ensembl cytogenetic band:  17q21.1   HGNC cytogenetic band: 17q21.1

MSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSL1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P038278:  view genomic region     (about GC identifiers)

Start:
38,278,551 bp from pter      End:
38,293,042 bp from pter
Size:
14,492 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MSL1_HUMAN, Q68DK7 (See protein sequence)
Recommended Name: Male-specific lethal 1 homolog  
Size: 614 amino acids; 67128 Da
Subunit: Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the
KAT8/MOF/MYST1, MSL1/hampin, MSL2 and MSL3. Directly interacts with MSL2 via its coiled coil domain. Directly
interacts with NUPR1. Interacts with TP53BP1; this interaction may be required for MSL1 DNA repair activity, but
not for histone acetyltransferase activity
Subcellular location: Nucleus
3 PDB 3D structures from and Proteopedia for MSL1:
4B7Y (3D)        4B86 (3D)        4DNC (3D)    
Secondary accessions: Q0VF46 Q69Z03
Alternative splicing: 3 isoforms:  Q68DK7-1   Q68DK7-2   Q68DK7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MSL1: NX_Q68DK7

Explore proteomics data for MSL1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated with SUMO1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68DK7

  • MSL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MSL1 Protein Expression
    REFSEQ proteins: NP_001012241.1  
    ENSEMBL proteins: 
     ENSP00000381543   ENSP00000463949   ENSP00000462731   ENSP00000462945   ENSP00000462114  
     ENSP00000462915  

    Human Recombinant Protein Products for MSL1: 
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    Cloud-Clone Corp. Proteins for MSL1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0072487MSL complex IDA--

    MSL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026711 Msl-1

    Graphical View of Domain Structure for InterPro Entry Q68DK7

    ProtoNet protein and cluster: Q68DK7

    UniProtKB/Swiss-Prot: MSL1_HUMAN, Q68DK7
    Similarity: Belongs to the msl-1 family


    MSL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MSL1_HUMAN, Q68DK7
    Function: Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at
    'Lys-16' (H4K16ac) which is implicated in the formation of higher-order chromatin structure. Greatly enhances
    MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub). This
    modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to
    gene activation, including that of HOXA9 and MEIS1
    Induction: Up-regulated by gamma-irradiation

    Phenotypes:
         1 GenomeRNAi human phenotype for MSL1:

     Decreased viability of wild-ty 

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MSL1

    5/8 Interacting proteins for MSL1 (Q68DK73) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT8Q9H7Z63I2D: score=2 
    CADPSQ9ULU83I2D: score=1 
    CRKLP461093I2D: score=1 
    FCHSD2O948683I2D: score=1 
    MSL2Q9HCI73I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043984histone H4-K16 acetylation IDA--

    MSL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MSL1

    Search CenterWatch for drugs/clinical trials and news about MSL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MSL1 gene: 
    NM_001012241.1  

    Unigene Cluster for MSL1:

    Male-specific lethal 1 homolog (Drosophila)
    Hs.532786  [show with all ESTs]
    Unigene Representative Sequence: NM_001012241
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398532 ENST00000577454(uc002huc.2) ENST00000578648 ENST00000579565
    ENST00000578826 ENST00000582920 ENST00000582884 ENST00000581246 ENST00000339569(uc002hua.4 uc002hub.3 uc002hud.3)
    ENST00000583127 ENST00000580086
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    hsa-miR-520e hsa-miR-3194-5p hsa-miR-15a hsa-miR-106a hsa-miR-200a hsa-miR-128 hsa-miR-138-2* hsa-miR-93
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AK055378.1 AK297619.1 AL049450.1 BC019821.1 BC039449.1 BC118997.1 BC122543.1 BX647188.1 
    CR749360.1 

    15 DOTS entries:

    DT.446206  DT.97844982  DT.452373  DT.95172218  DT.40132087  DT.97791312  DT.97844132  DT.120981538 
    DT.95191094  DT.95189979  DT.100784851  DT.100784852  DT.100706124  DT.120981547  DT.430352 

    24/522 AceView cDNA sequences (see all 522):

    AV728500 AI457684 C04881 AA973624 AI536758 AA478287 BM740068 CA449529 
    AA969604 AW467519 BE870003 AA746655 AI364835 CB122620 BM475963 AU185515 
    AI431277 AI582361 AI183355 CA444700 BF940078 BE896063 AI824419 AK125654 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MSL1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                                        
    SP2:        -                                                               
    SP3:                                                  -                     
    SP4:                                                                        


    ECgene alternative splicing isoforms for MSL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGATACAACA
    MSL1 Expression
    About this image


    See MSL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSL1

    SOURCE GeneReport for Unigene cluster: Hs.532786
        SABiosciences Custom PCR Arrays for MSL1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MSL1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Msl11 , 5 male-specific lethal 1 homolog (Drosophila)1, 5 95.44(n)1
    95.44(a)1
      11 (62.67 cM)5
    740261  NM_028722.21  NP_082998.21 
     987955165 
    chicken
    (Gallus gallus)
    Aves MSL11 male-specific lethal 1 homolog (Drosophila) 78.51(n)
    83.58(a)
      777194  XM_001236663.2  XP_001236664.2 
    lizard
    (Anolis carolinensis)
    Reptilia MSL16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    6(69400603-69415614)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC540012 similar to MLN51 protein 76.37(n)    BC047246.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AJ555546.12   -- 76.47(n)    AJ555546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta msl-16
    male-specific lethal 1
    6(a)
    1 ↔ 1
    2L(18683720-18688796)


    ENSEMBL Gene Tree for MSL1 (if available)
    TreeFam Gene Tree for MSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/287 SNPs in MSL1 are shown (see all 287)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413052361,2
    --38276845(+) ACAAAG/TCACAG 1 -- us2k10--------
    rs1450384371,2
    C--38276894(+) AATGTC/TAGTCT 1 -- us2k10--------
    rs755531801,2
    C,F--38276896(+) TGTCAG/ATCTTC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1813446601,2
    --38276908(+) CCATCA/TCCATA 1 -- us2k10--------
    rs1868281951,2
    --38276910(+) ATCTCA/CATAGA 1 -- us2k10--------
    rs1483058221,2
    --38277088(+) TCTCTA/CCTAAA 1 -- us2k10--------
    rs1916109091,2
    --38277175(+) TGAACC/TCCGGA 1 -- us2k10--------
    rs1404375851,2
    --38277240(+) AGTGAA/GAATCC 1 -- us2k10--------
    rs1838611261,2
    --38277293(+) GACTTG/TTTGGC 1 -- us2k10--------
    rs1504935521,2
    --38277338(+) AGCTGA/GAGAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MSL1 (38278551 - 38293042 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MSL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908221CNV Loss21882294
    nsv528369CNV Loss19592680
    nsv833444CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614801    OMIM disorders: --

    3 diseases for MSL1:    About MalaCards
    colorectal cancer    pancreatic cancer    pancreatitis


    MSL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MSL1

    Export disorders for MSL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MSL1 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with MSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. (PubMed id 16227571)1, 2, 3 Smith E.R.... Lucchesi J.C. (2005)
    2. The RING finger protein MSL2 in the MOF complex is an E3 ubiquitin ligase for H2B K34 and is involved in crosstalk with H3 K4 and K7 9 methylation. (PubMed id 21726816)1, 2 Wu L....Dou Y. (2011)
    3. p8/nupr1 regulates DNA-repair activity after double-s trand gamma irradiation-induced DNA damage. (PubMed id 19650074)1, 2 Gironella M....Iovanna J.L. (2009)
    4. Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. (PubMed id 16543150)1, 3 Mendjan S....Akhtar A. (2006)
    5. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (2013)
    6. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O....Lill R. (2012)
    7. Msl1-mediated dimerization of the dosage compensation complex is essential for male X-chromosome regulation in Drosophila. (PubMed id 23084835)1 Hallacli E....Kadlec J. (2012)
    8. Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1. (PubMed id 21217699)1 Kadlec J....Akhtar A. (2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 339287 HGNC: 27905 AceView: LOC339287 Ensembl:ENSG00000188895 euGenes: HUgn339287
    ECgene: MSL1 H-InvDB: MSL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MSL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MSL1 gene:
    Search GeneIP for patents involving MSL1

    GeneCards and IP:
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