Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Male-specific lethal 3 homolog

Gene

MSL3

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

Functioni

May be involved in chromatin remodeling and transcriptional regulation. May have a role in X inactivation. Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure. Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex.6 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • methylated histone binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-3214847. HATs acetylate histones.

Names & Taxonomyi

Protein namesi
Recommended name:
Male-specific lethal 3 homolog
Alternative name(s):
Male-specific lethal-3 homolog 1
Male-specific lethal-3 protein-like 1
Short name:
MSL3-like 1
Gene namesi
Name:MSL3
Synonyms:MSL3L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:7370. MSL3.

Subcellular locationi

GO - Cellular componenti

  • MSL complex Source: UniProtKB
  • NuA4 histone acetyltransferase complex Source: GO_Central
  • nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi31Y → A: Diminishes interaction with histone H4 monomethylated at 'Lys-20'(H4K20Me1). 1 Publication1
Mutagenesisi55H → A: Diminishes DNA-binding; when associated with A-65. 1 Publication1
Mutagenesisi56F → A: Abolishes interaction with histone H4 monomethylated at 'Lys-20'(H4K20Me1). 1
Mutagenesisi59W → G: Diminishes DNA-binding. 1 Publication1
Mutagenesisi65R → A: Diminishes DNA-binding; when associated with A-55. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000005302.
PharmGKBiPA164723161.

Polymorphism and mutation databases

BioMutaiMSL3.
DMDMi32171482.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802471 – 521Male-specific lethal 3 homologAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei309PhosphoserineBy similarity1
Modified residuei311PhosphoserineCombined sources1
Modified residuei367PhosphoserineCombined sources1
Modified residuei400PhosphoserineCombined sources1
Modified residuei405PhosphothreonineCombined sources1
Modified residuei407PhosphoserineCombined sources1
Modified residuei411PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N5Y2.
MaxQBiQ8N5Y2.
PaxDbiQ8N5Y2.
PeptideAtlasiQ8N5Y2.
PRIDEiQ8N5Y2.

PTM databases

iPTMnetiQ8N5Y2.
PhosphoSitePlusiQ8N5Y2.

Expressioni

Tissue specificityi

Expressed in many tissues including liver, pancreas, heart, lung, kidney, skeletal muscle, brain, and placenta, with highest expression in skeletal muscle and heart.

Gene expression databases

BgeeiENSG00000005302.
CleanExiHS_MSL3.
ExpressionAtlasiQ8N5Y2. baseline and differential.
GenevisibleiQ8N5Y2. HS.

Organism-specific databases

HPAiHPA034535.
HPA034536.
HPA061413.

Interactioni

Subunit structurei

Component the MSL histone acetyltransferase complex at least composed of the MOF/KAT8, MSL1/hampin, MSL2 and MSL3. Interacts (via the MRG domain) with MSL1.4 Publications

GO - Molecular functioni

  • methylated histone binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116143. 18 interactors.
DIPiDIP-56857N.
IntActiQ8N5Y2. 6 interactors.
STRINGi9606.ENSP00000312244.

Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi16 – 20Combined sources5
Beta strandi30 – 42Combined sources13
Beta strandi48 – 56Combined sources9
Helixi61 – 63Combined sources3
Beta strandi65 – 68Combined sources4
Helixi69 – 71Combined sources3
Beta strandi72 – 74Combined sources3
Helixi77 – 91Combined sources15
Helixi178 – 192Combined sources15
Helixi206 – 222Combined sources17
Helixi251 – 272Combined sources22
Helixi276 – 278Combined sources3
Helixi279 – 287Combined sources9
Helixi447 – 449Combined sources3
Helixi453 – 469Combined sources17
Helixi474 – 493Combined sources20
Helixi495 – 498Combined sources4
Helixi501 – 503Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Y0NX-ray3.00A/B/C/D167-289[»]
A/B/C/D442-518[»]
3OA6X-ray2.35A/B1-101[»]
3OB9X-ray2.50A/B/C/D/E2-93[»]
ProteinModelPortaliQ8N5Y2.
SMRiQ8N5Y2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N5Y2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 90ChromoAdd BLAST59
Domaini168 – 517MRGPROSITE-ProRule annotationAdd BLAST350

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni290 – 440Required for the histone acetyltransferase activity of the MSL complexAdd BLAST151

Sequence similaritiesi

Contains 1 chromo domain.Curated
Contains 1 MRG domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3001. Eukaryota.
ENOG410XR9F. LUCA.
GeneTreeiENSGT00730000111072.
HOGENOMiHOG000293161.
HOVERGENiHBG052511.
InParanoidiQ8N5Y2.
KOiK18403.
OMAiGMKFKFH.
OrthoDBiEOG091G0E3M.
PhylomeDBiQ8N5Y2.
TreeFamiTF323400.

Family and domain databases

InterProiIPR000953. Chromo/shadow_dom.
IPR016197. Chromodomain-like.
IPR008676. MRG.
IPR026541. MRG_dom.
IPR025995. Tudor-knot.
[Graphical view]
PANTHERiPTHR10880. PTHR10880. 2 hits.
PfamiPF05712. MRG. 1 hit.
PF11717. Tudor-knot. 1 hit.
[Graphical view]
SMARTiSM00298. CHROMO. 1 hit.
[Graphical view]
SUPFAMiSSF54160. SSF54160. 2 hits.
PROSITEiPS51640. MRG. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N5Y2-1) [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
MSASEGMKFK FHSGEKVLCF EPDPTKARVL YDAKIVDVIV GKDEKGRKIP
60 70 80 90 100
EYLIHFNGWN RSWDRWAAED HVLRDTDENR RLQRKLARKA VARLRSTGRK
110 120 130 140 150
KKRCRLPGVD SVLKGLPTEE KDENDENSLS SSSDCSENKD EEISEESDIE
160 170 180 190 200
EKTEVKEEPE LQTRREMEER TITIEIPEVL KKQLEDDCYY INRRKRLVKL
210 220 230 240 250
PCQTNIITIL ESYVKHFAIN AAFSANERPR HHHVMPHANM NVHYIPAEKN
260 270 280 290 300
VDLCKEMVDG LRITFDYTLP LVLLYPYEQA QYKKVTSSKF FLPIKESATS
310 320 330 340 350
TNRSQEELSP SPPLLNPSTP QSTESQPTTG EPATPKRRKA EPEALQSLRR
360 370 380 390 400
STRHSANCDR LSESSASPQP KRRQQDTSAS MPKLFLHLEK KTPVHSRSSS
410 420 430 440 450
PIPLTPSKEG SAVFAGFEGR RTNEINEVLS WKLVPDNYPP GDQPPPPSYI
460 470 480 490 500
YGAQHLLRLF VKLPEILGKM SFSEKNLKAL LKHFDLFLRF LAEYHDDFFP
510 520
ESAYVAACEA HYSTKNPRAI Y
Length:521
Mass (Da):59,824
Last modified:October 1, 2002 - v1
Checksum:i6DFFB9E183D0CFB9
GO
Isoform 2 (identifier: Q8N5Y2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.
     60-61: NR → MP

Show »
Length:462
Mass (Da):53,043
Checksum:i88D09081DA2C7F1A
GO
Isoform 3 (identifier: Q8N5Y2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAK → MSPSVRPGAGWAPVGRPGRPIQ

Note: No experimental confirmation available.
Show »
Length:509
Mass (Da):58,249
Checksum:i50F8B10061D5E89E
GO
Isoform 4 (identifier: Q8N5Y2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: Missing.

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):40,577
Checksum:i86211AD697FA2C88
GO
Isoform 5 (identifier: Q8N5Y2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-416: KTPVHSRSSSPIPLTPSKEGSAVFAG → SRFILGCPRPGRASVYFVFSQCQAWC
     417-521: Missing.

Note: No experimental confirmation available.
Show »
Length:416
Mass (Da):47,950
Checksum:i97B2DC9F80BE09BE
GO
Isoform 6 (identifier: Q8N5Y2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MSASEG → MKMMKT
     7-155: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):42,725
Checksum:iFD52D6BBAFA528D9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37D → V in AAD38499 (PubMed:10395802).Curated1
Sequence conflicti346Q → R in AK025642 (PubMed:14702039).Curated1
Sequence conflicti391K → E in AK025642 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0690612S → T.1 PublicationCorresponds to variant rs150938844dbSNPEnsembl.1
Natural variantiVAR_048732199K → Q.Corresponds to variant rs1051595dbSNPEnsembl.1
Natural variantiVAR_048733251V → I.Corresponds to variant rs1051600dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456521 – 166Missing in isoform 4. 1 PublicationAdd BLAST166
Alternative sequenceiVSP_0076361 – 59Missing in isoform 2. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0433421 – 34MSASE…LYDAK → MSPSVRPGAGWAPVGRPGRP IQ in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0553761 – 6MSASEG → MKMMKT in isoform 6. 1 Publication6
Alternative sequenceiVSP_0553777 – 155Missing in isoform 6. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_00763760 – 61NR → MP in isoform 2. 1 Publication2
Alternative sequenceiVSP_045653391 – 416KTPVH…AVFAG → SRFILGCPRPGRASVYFVFS QCQAWC in isoform 5. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_045654417 – 521Missing in isoform 5. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117065 mRNA. Translation: AAD38499.1.
AK025642 mRNA. No translation available.
AK289780 mRNA. Translation: BAF82469.1.
AK294255 mRNA. Translation: BAH11713.1.
AK300814 mRNA. Translation: BAG62470.1.
AC004554 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98799.1.
CH471074 Genomic DNA. Translation: EAW98801.1.
BC031210 mRNA. Translation: AAH31210.1.
AL050178 mRNA. Translation: CAB43308.1.
AL713667 mRNA. Translation: CAD28473.1.
CCDSiCCDS14147.1. [Q8N5Y2-1]
CCDS14148.1. [Q8N5Y2-5]
CCDS14149.1. [Q8N5Y2-4]
CCDS55369.1. [Q8N5Y2-3]
CCDS65213.1. [Q8N5Y2-6]
PIRiT08795.
RefSeqiNP_001180199.1. NM_001193270.2. [Q8N5Y2-3]
NP_001269103.1. NM_001282174.1. [Q8N5Y2-6]
NP_006791.2. NM_006800.3. [Q8N5Y2-4]
NP_523352.1. NM_078628.1. [Q8N5Y2-5]
NP_523353.2. NM_078629.3. [Q8N5Y2-1]
XP_005274497.1. XM_005274440.2. [Q8N5Y2-4]
UniGeneiHs.655288.

Genome annotation databases

EnsembliENST00000312196; ENSP00000312244; ENSG00000005302. [Q8N5Y2-1]
ENST00000337339; ENSP00000338078; ENSG00000005302. [Q8N5Y2-5]
ENST00000361672; ENSP00000354562; ENSG00000005302. [Q8N5Y2-6]
ENST00000380693; ENSP00000370069; ENSG00000005302. [Q8N5Y2-4]
ENST00000398527; ENSP00000381538; ENSG00000005302. [Q8N5Y2-3]
GeneIDi10943.
KEGGihsa:10943.
UCSCiuc004cuv.2. human. [Q8N5Y2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117065 mRNA. Translation: AAD38499.1.
AK025642 mRNA. No translation available.
AK289780 mRNA. Translation: BAF82469.1.
AK294255 mRNA. Translation: BAH11713.1.
AK300814 mRNA. Translation: BAG62470.1.
AC004554 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98799.1.
CH471074 Genomic DNA. Translation: EAW98801.1.
BC031210 mRNA. Translation: AAH31210.1.
AL050178 mRNA. Translation: CAB43308.1.
AL713667 mRNA. Translation: CAD28473.1.
CCDSiCCDS14147.1. [Q8N5Y2-1]
CCDS14148.1. [Q8N5Y2-5]
CCDS14149.1. [Q8N5Y2-4]
CCDS55369.1. [Q8N5Y2-3]
CCDS65213.1. [Q8N5Y2-6]
PIRiT08795.
RefSeqiNP_001180199.1. NM_001193270.2. [Q8N5Y2-3]
NP_001269103.1. NM_001282174.1. [Q8N5Y2-6]
NP_006791.2. NM_006800.3. [Q8N5Y2-4]
NP_523352.1. NM_078628.1. [Q8N5Y2-5]
NP_523353.2. NM_078629.3. [Q8N5Y2-1]
XP_005274497.1. XM_005274440.2. [Q8N5Y2-4]
UniGeneiHs.655288.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2Y0NX-ray3.00A/B/C/D167-289[»]
A/B/C/D442-518[»]
3OA6X-ray2.35A/B1-101[»]
3OB9X-ray2.50A/B/C/D/E2-93[»]
ProteinModelPortaliQ8N5Y2.
SMRiQ8N5Y2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116143. 18 interactors.
DIPiDIP-56857N.
IntActiQ8N5Y2. 6 interactors.
STRINGi9606.ENSP00000312244.

PTM databases

iPTMnetiQ8N5Y2.
PhosphoSitePlusiQ8N5Y2.

Polymorphism and mutation databases

BioMutaiMSL3.
DMDMi32171482.

Proteomic databases

EPDiQ8N5Y2.
MaxQBiQ8N5Y2.
PaxDbiQ8N5Y2.
PeptideAtlasiQ8N5Y2.
PRIDEiQ8N5Y2.

Protocols and materials databases

DNASUi10943.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312196; ENSP00000312244; ENSG00000005302. [Q8N5Y2-1]
ENST00000337339; ENSP00000338078; ENSG00000005302. [Q8N5Y2-5]
ENST00000361672; ENSP00000354562; ENSG00000005302. [Q8N5Y2-6]
ENST00000380693; ENSP00000370069; ENSG00000005302. [Q8N5Y2-4]
ENST00000398527; ENSP00000381538; ENSG00000005302. [Q8N5Y2-3]
GeneIDi10943.
KEGGihsa:10943.
UCSCiuc004cuv.2. human. [Q8N5Y2-1]

Organism-specific databases

CTDi10943.
GeneCardsiMSL3.
HGNCiHGNC:7370. MSL3.
HPAiHPA034535.
HPA034536.
HPA061413.
MIMi300609. gene.
neXtProtiNX_Q8N5Y2.
OpenTargetsiENSG00000005302.
PharmGKBiPA164723161.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3001. Eukaryota.
ENOG410XR9F. LUCA.
GeneTreeiENSGT00730000111072.
HOGENOMiHOG000293161.
HOVERGENiHBG052511.
InParanoidiQ8N5Y2.
KOiK18403.
OMAiGMKFKFH.
OrthoDBiEOG091G0E3M.
PhylomeDBiQ8N5Y2.
TreeFamiTF323400.

Enzyme and pathway databases

ReactomeiR-HSA-3214847. HATs acetylate histones.

Miscellaneous databases

ChiTaRSiMSL3. human.
EvolutionaryTraceiQ8N5Y2.
GenomeRNAii10943.
PROiQ8N5Y2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005302.
CleanExiHS_MSL3.
ExpressionAtlasiQ8N5Y2. baseline and differential.
GenevisibleiQ8N5Y2. HS.

Family and domain databases

InterProiIPR000953. Chromo/shadow_dom.
IPR016197. Chromodomain-like.
IPR008676. MRG.
IPR026541. MRG_dom.
IPR025995. Tudor-knot.
[Graphical view]
PANTHERiPTHR10880. PTHR10880. 2 hits.
PfamiPF05712. MRG. 1 hit.
PF11717. Tudor-knot. 1 hit.
[Graphical view]
SMARTiSM00298. CHROMO. 1 hit.
[Graphical view]
SUPFAMiSSF54160. SSF54160. 2 hits.
PROSITEiPS51640. MRG. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMS3L1_HUMAN
AccessioniPrimary (citable) accession number: Q8N5Y2
Secondary accession number(s): A6NCU2
, A6NHW8, A8K165, B4DUV8, B7Z227, Q9UG70, Q9Y5Z8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 142 of the entry and version 1 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

Miscellaneous

MSL3L1 gene undergoes X inactivation.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.