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

Summary

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: Enables protein-macromolecule adaptor activity. Involved in positive regulation of DNA-templated transcription. Located in nucleoplasm. Part of MSL complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 22.1), brain (RPKM 17.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40121971..40136917)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40985855..41000801)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38278224..38293170)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006V28 (e-PCR)
- UniSTS:5221

WI-17575 (e-PCR)
- UniSTS:619

LOC339287 (e-PCR)
- UniSTS:278680

NoName (e-PCR)
- UniSTS:490137

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
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)

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
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
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
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