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Protein

Male-specific lethal 1 homolog

Gene

MSL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. In the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together for enzymatic activity regulation.3 Publications

GO - Molecular functioni

GO - Biological processi

  • histone H4-K16 acetylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Enzyme and pathway databases

BioCyciZFISH:G66-32121-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Names & Taxonomyi

Protein namesi
Recommended name:
Male-specific lethal 1 homolog
Short name:
MSL-1
Alternative name(s):
Male-specific lethal 1-like 1
Short name:
MSL1-like 1
Male-specific lethal-1 homolog 1
Gene namesi
Name:MSL1
Synonyms:MSL1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:27905. MSL1.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

  • MSL complex Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000188895.
PharmGKBiPA164723127.

Polymorphism and mutation databases

BioMutaiMSL1.
DMDMi322510113.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003492361 – 614Male-specific lethal 1 homologAdd BLAST614

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei66PhosphoserineCombined sources1
Modified residuei126PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1
Modified residuei353N6-acetyllysineCombined sources1
Modified residuei393PhosphoserineCombined sources1
Modified residuei396PhosphothreonineCombined sources1
Modified residuei442PhosphoserineCombined sources1

Post-translational modificationi

Sumoylated with SUMO1.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ68DK7.
MaxQBiQ68DK7.
PaxDbiQ68DK7.
PeptideAtlasiQ68DK7.
PRIDEiQ68DK7.
TopDownProteomicsiQ68DK7-2. [Q68DK7-2]

PTM databases

iPTMnetiQ68DK7.
PhosphoSitePlusiQ68DK7.

Expressioni

Inductioni

Up-regulated by gamma-irradiation.1 Publication

Gene expression databases

BgeeiENSG00000188895.
CleanExiHS_MSL1.
ExpressionAtlasiQ68DK7. baseline and differential.
GenevisibleiQ68DK7. HS.

Organism-specific databases

HPAiHPA022800.
HPA023567.

Interactioni

Subunit structurei

Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the KAT8/MOF/MYST1, MSL1/hampin, MSL2 and MSL3. Forms a MSL heterotetrameric core with MSL2. Interacts with KAT8 and MSL3; both interactions are direct. Directly interacts with NUPR1. Interacts with TP53BP1; this interaction may be required for MSL1 DNA repair activity, but not for histone acetyltransferase activity.5 Publications

Protein-protein interaction databases

BioGridi130859. 37 interactors.
DIPiDIP-56862N.
IntActiQ68DK7. 7 interactors.
STRINGi9606.ENSP00000462945.

Structurei

Secondary structure

1614
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi215 – 250Combined sources36
Beta strandi478 – 480Combined sources3
Helixi500 – 518Combined sources19

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4B7YX-ray3.25A/B212-252[»]
4B86X-ray3.50A/B/E/F/I/J212-267[»]
4DNCX-ray2.05D/E473-520[»]
ProteinModelPortaliQ68DK7.
SMRiQ68DK7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni223 – 237Interaction with MSL2Add BLAST15
Regioni498 – 518Interaction with KAT8Add BLAST21
Regioni550 – 591Sufficient for interaction with MSL3 MRG domainAdd BLAST42

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili213 – 2821 PublicationAdd BLAST70

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi10 – 15Poly-Ala6
Compositional biasi55 – 185Pro-richAdd BLAST131
Compositional biasi208 – 214Poly-Gly7

Domaini

The coiled coil is formed by helices from two subunits in the MSL1 homodimer.

Sequence similaritiesi

Belongs to the msl-1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IDXY. Eukaryota.
ENOG410XPFF. LUCA.
GeneTreeiENSGT00390000018292.
HOGENOMiHOG000113663.
HOVERGENiHBG060802.
InParanoidiQ68DK7.
KOiK13163.
OMAiHKRKTPF.
OrthoDBiEOG091G07CG.
PhylomeDBiQ68DK7.
TreeFamiTF330735.

Family and domain databases

InterProiIPR026711. Msl-1.
IPR031840. MSL1_dimer.
IPR029332. PEHE_dom.
[Graphical view]
PANTHERiPTHR21656. PTHR21656. 1 hit.
PfamiPF16801. MSL1_dimer. 1 hit.
PF15275. PEHE. 1 hit.
[Graphical view]
SMARTiSM01300. PEHE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q68DK7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTMRSAVFKA AAAPAGGNPE QRLDYERAAA LGGPEDEPGA AEAHFLPRHR
60 70 80 90 100
KLKEPGPPLA SSQGGSPAPS PAGCGGKGRG LLLPAGAAPG QQEESWGGSV
110 120 130 140 150
PLPCPPPATK QAGIGGEPAA AGAGCSPRPK YQAVLPIQTG SLVAAAKEPT
160 170 180 190 200
PWAGDKGGAA SPAATASDPA GPPPLPLPGP PPLAPTATAG TLAASEGRWK
210 220 230 240 250
SMRKSPLGGG GGSGASSQAA CLKQILLLQL DLIEQQQQQL QAKEKEIEEL
260 270 280 290 300
KSERDTLLAR IERMERRMQL VKKDNEKERH KLFQGYETEE REETELSEKI
310 320 330 340 350
KLECQPELSE TSQTLPPKPF SCGRSGKGHK RKSPFGSTER KTPVKKLAPE
360 370 380 390 400
FSKVKTKTPK HSPIKEEPCG SLSETVCKRE LRSQETPEKP RSSVDTPPRL
410 420 430 440 450
STPQKGPSTH PKEKAFSSEI EDLPYLSTTE MYLCRWHQPP PSPLPLRESS
460 470 480 490 500
PKKEETVARC LMPSSVAGET SVLAVPSWRD HSVEPLRDPN PSDLLENLDD
510 520 530 540 550
SVFSKRHAKL ELDEKRRKRW DIQRIREQRI LQRLQLRMYK KKGIQESEPE
560 570 580 590 600
VTSFFPEPDD VESLMITPFL PVVAFGRPLP KLTPQNFELP WLDERSRCRL
610
EIQKKQTPHR TCRK
Note: Gene prediction based on EST data. No experimental confirmation available.
Length:614
Mass (Da):67,128
Last modified:February 8, 2011 - v3
Checksum:iD48D845C1C2ABF45
GO
Isoform 2 (identifier: Q68DK7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-201: Missing.

Note: No experimental confirmation available.
Show »
Length:413
Mass (Da):47,593
Checksum:i846A85F75A0B626F
GO
Isoform 3 (identifier: Q68DK7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-263: Missing.

Show »
Length:351
Mass (Da):40,778
Checksum:i4D18D5EC95550885
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti427S → P in CAH18213 (PubMed:17974005).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0352361 – 263Missing in isoform 3. 1 PublicationAdd BLAST263
Alternative sequenceiVSP_0352371 – 201Missing in isoform 2. 1 PublicationAdd BLAST201

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL049450 mRNA. Translation: CAH10734.1.
CR749360 mRNA. Translation: CAH18213.1.
AC068669 Genomic DNA. No translation available.
BC118997 mRNA. Translation: AAI18998.1.
BC122543 mRNA. Translation: AAI22544.1.
CCDSiCCDS45670.1. [Q68DK7-3]
RefSeqiNP_001012241.1. NM_001012241.1. [Q68DK7-3]
XP_005257355.1. XM_005257298.4. [Q68DK7-1]
UniGeneiHs.532786.

Genome annotation databases

EnsembliENST00000398532; ENSP00000381543; ENSG00000188895. [Q68DK7-1]
ENST00000579565; ENSP00000462945; ENSG00000188895. [Q68DK7-3]
GeneIDi339287.
KEGGihsa:339287.
UCSCiuc002hua.6. human. [Q68DK7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL049450 mRNA. Translation: CAH10734.1.
CR749360 mRNA. Translation: CAH18213.1.
AC068669 Genomic DNA. No translation available.
BC118997 mRNA. Translation: AAI18998.1.
BC122543 mRNA. Translation: AAI22544.1.
CCDSiCCDS45670.1. [Q68DK7-3]
RefSeqiNP_001012241.1. NM_001012241.1. [Q68DK7-3]
XP_005257355.1. XM_005257298.4. [Q68DK7-1]
UniGeneiHs.532786.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4B7YX-ray3.25A/B212-252[»]
4B86X-ray3.50A/B/E/F/I/J212-267[»]
4DNCX-ray2.05D/E473-520[»]
ProteinModelPortaliQ68DK7.
SMRiQ68DK7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130859. 37 interactors.
DIPiDIP-56862N.
IntActiQ68DK7. 7 interactors.
STRINGi9606.ENSP00000462945.

PTM databases

iPTMnetiQ68DK7.
PhosphoSitePlusiQ68DK7.

Polymorphism and mutation databases

BioMutaiMSL1.
DMDMi322510113.

Proteomic databases

EPDiQ68DK7.
MaxQBiQ68DK7.
PaxDbiQ68DK7.
PeptideAtlasiQ68DK7.
PRIDEiQ68DK7.
TopDownProteomicsiQ68DK7-2. [Q68DK7-2]

Protocols and materials databases

DNASUi339287.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398532; ENSP00000381543; ENSG00000188895. [Q68DK7-1]
ENST00000579565; ENSP00000462945; ENSG00000188895. [Q68DK7-3]
GeneIDi339287.
KEGGihsa:339287.
UCSCiuc002hua.6. human. [Q68DK7-1]

Organism-specific databases

CTDi339287.
GeneCardsiMSL1.
HGNCiHGNC:27905. MSL1.
HPAiHPA022800.
HPA023567.
MIMi614801. gene.
neXtProtiNX_Q68DK7.
OpenTargetsiENSG00000188895.
PharmGKBiPA164723127.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDXY. Eukaryota.
ENOG410XPFF. LUCA.
GeneTreeiENSGT00390000018292.
HOGENOMiHOG000113663.
HOVERGENiHBG060802.
InParanoidiQ68DK7.
KOiK13163.
OMAiHKRKTPF.
OrthoDBiEOG091G07CG.
PhylomeDBiQ68DK7.
TreeFamiTF330735.

Enzyme and pathway databases

BioCyciZFISH:G66-32121-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Miscellaneous databases

ChiTaRSiMSL1. human.
GenomeRNAii339287.
PROiQ68DK7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188895.
CleanExiHS_MSL1.
ExpressionAtlasiQ68DK7. baseline and differential.
GenevisibleiQ68DK7. HS.

Family and domain databases

InterProiIPR026711. Msl-1.
IPR031840. MSL1_dimer.
IPR029332. PEHE_dom.
[Graphical view]
PANTHERiPTHR21656. PTHR21656. 1 hit.
PfamiPF16801. MSL1_dimer. 1 hit.
PF15275. PEHE. 1 hit.
[Graphical view]
SMARTiSM01300. PEHE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMSL1_HUMAN
AccessioniPrimary (citable) accession number: Q68DK7
Secondary accession number(s): Q0VF46, Q69Z03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: February 8, 2011
Last modified: November 30, 2016
This is version 98 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.