Gene Gene information from NCBI Gene database.
Entrez ID 339287
Gene name MSL complex subunit 1
Gene symbol MSL1
Synonyms (NCBI Gene)
MSL-1
Chromosome 17
Chromosome location 17q21.1
miRNA miRNA information provided by mirtarbase database.
623
miRTarBase ID miRNA Experiments Reference
MIRT522417 hsa-miR-8485 HITS-CLIP 23313552
MIRT287089 hsa-miR-449b-3p HITS-CLIP 23313552
MIRT701785 hsa-miR-103b HITS-CLIP 23313552
MIRT234348 hsa-miR-539-5p HITS-CLIP 23313552
MIRT234350 hsa-miR-4428 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NUPR1 Repression 19650074
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16227571, 28514442, 30224647, 33961781
GO:0005634 Component Nucleus IDA 15561718, 16227571
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614801 27905 ENSG00000188895
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q68DK7
Protein name Male-specific lethal 1 homolog (MSL-1) (Male-specific lethal 1-like 1) (MSL1-like 1) (Male-specific lethal-1 homolog 1)
Protein function Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubM
PDB 4B7Y , 4B86 , 4DNC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16801 MSL1_dimer 214 250 Dimerisation domain of Male-specific-Lethal 1 Coiled-coil
PF15275 PEHE 473 605 PEHE domain Family
Sequence
MTMRSAVFKAAAAPAGGNPEQRLDYERAAALGGPEDEPGAAEAHFLPRHRKLKEPGPPLA
SSQGGSPAPSPAGCGGKGRGLLLPAGAAPGQQEESWGGSVPLPCPPPATKQAGIGGEPAA
AGAGCSPRPKYQAVLPIQTGSLVAAAKEPTPWAGDKGGAASPAATASDPAGPPPLPLPGP
PPLAPTATAGTLAASEGRWKSMRKSPLGGGGGSGASSQAACLKQILLLQLDLIEQQQQQL
QAKEKEIEEL
KSERDTLLARIERMERRMQLVKKDNEKERHKLFQGYETEEREETELSEKI
KLECQPELSETSQTLPPKPFSCGRSGKGHKRKSPFGSTERKTPVKKLAPEFSKVKTKTPK
HSPIKEEPCGSLSETVCKRELRSQETPEKPRSSVDTPPRLSTPQKGPSTHPKEKAFSSEI
EDLPYLSTTEMYLCRWHQPPPSPLPLRESSPKKEETVARCLMPSSVAGETSVLAVPSWRD
HSVEPLRDPNPSDLLENLDDSVFSKRHAKLELDEKRRKRWDIQRIREQRILQRLQLRMYK
KKGIQESEPEVTSFFPEPDDVESLMITPFLPVVAFGRPLPKLTPQNFELPWLDERSRCRL
EIQKK
QTPHRTCRK
Sequence length 614
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Drug Related Side Effects and Adverse Reactions Associate 34644577
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 20111712, 34644577
★☆☆☆☆
Found in Text Mining only
Neoplasms Cystic Mucinous and Serous Inhibit 20111712
★☆☆☆☆
Found in Text Mining only
Neoplasms Cystic Mucinous and Serous Associate 20111712
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 20111712
★☆☆☆☆
Found in Text Mining only
Vasculitis Associate 27752292
★☆☆☆☆
Found in Text Mining only