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Protein

Male-specific lethal 3 homolog

Gene

MSL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

MSL3L1 gene undergoes X inactivation.

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, DNA-binding
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000005302.17
HGNCiHGNC:7370 MSL3
MIMi300609 gene
neXtProtiNX_Q8N5Y2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi72108
72109 [Q8N5Y2-2]
72110 [Q8N5Y2-3]

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 Expressed in 220 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MSL3
ExpressionAtlasiQ8N5Y2 baseline and differential
GenevisibleiQ8N5Y2 HS

Organism-specific databases

HPAiHPA034535
HPA034536

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

Protein-protein interaction databases

BioGridi116143, 18 interactors
ComplexPortaliCPX-815 MSL histone acetyltransferase complex
CORUMiQ8N5Y2
DIPiDIP-56857N
IntActiQ8N5Y2, 6 interactors
STRINGi9606.ENSP00000312244

Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Phylogenomic databases

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

Family and domain databases

CDDicd00024 CHROMO, 1 hit
Gene3Di1.10.274.30, 2 hits
InterProiView protein in InterPro
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR008676 MRG
IPR038217 MRG_C_sf
IPR026541 MRG_dom
IPR037921 MSL3
IPR025995 Tudor-knot
PANTHERiPTHR10880 PTHR10880, 1 hit
PTHR10880:SF26 PTHR10880:SF26, 1 hit
PfamiView protein in Pfam
PF05712 MRG, 1 hit
PF11717 Tudor-knot, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 1 hit
SUPFAMiSSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS51640 MRG, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

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

This entry has 6 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Note: Based on similarity to mouse ortholog. No experimental confirmation available.Curated
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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKR8C9JKR8_HUMAN
Male-specific lethal 3 homolog
MSL3
224Annotation score:
A6NLU8A6NLU8_HUMAN
Male-specific lethal 3 homolog
MSL3
196Annotation score:
H7BYE4H7BYE4_HUMAN
Male-specific lethal 3 homolog
MSL3
116Annotation score:
F8WC61F8WC61_HUMAN
Male-specific lethal 3 homolog
MSL3
127Annotation score:
C9JXM9C9JXM9_HUMAN
Male-specific lethal 3 homolog
MSL3
19Annotation score:

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 → T1 PublicationCorresponds to variant dbSNP:rs150938844Ensembl.1
Natural variantiVAR_048732199K → Q. Corresponds to variant dbSNP:rs1051595Ensembl.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

Similar proteinsi

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
ComplexPortaliCPX-815 MSL histone acetyltransferase complex
CORUMiQ8N5Y2
DIPiDIP-56857N
IntActiQ8N5Y2, 6 interactors
STRINGi9606.ENSP00000312244

PTM databases

iPTMnetiQ8N5Y2
PhosphoSitePlusiQ8N5Y2

Polymorphism and mutation databases

BioMutaiMSL3
DMDMi32171482

Proteomic databases

EPDiQ8N5Y2
MaxQBiQ8N5Y2
PaxDbiQ8N5Y2
PeptideAtlasiQ8N5Y2
PRIDEiQ8N5Y2
ProteomicsDBi72108
72109 [Q8N5Y2-2]
72110 [Q8N5Y2-3]

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
EuPathDBiHostDB:ENSG00000005302.17
GeneCardsiMSL3
HGNCiHGNC:7370 MSL3
HPAiHPA034535
HPA034536
MIMi300609 gene
neXtProtiNX_Q8N5Y2
OpenTargetsiENSG00000005302
PharmGKBiPA164723161
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones

Miscellaneous databases

ChiTaRSiMSL3 human
EvolutionaryTraceiQ8N5Y2
GenomeRNAii10943
PROiPR:Q8N5Y2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005302 Expressed in 220 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MSL3
ExpressionAtlasiQ8N5Y2 baseline and differential
GenevisibleiQ8N5Y2 HS

Family and domain databases

CDDicd00024 CHROMO, 1 hit
Gene3Di1.10.274.30, 2 hits
InterProiView protein in InterPro
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR008676 MRG
IPR038217 MRG_C_sf
IPR026541 MRG_dom
IPR037921 MSL3
IPR025995 Tudor-knot
PANTHERiPTHR10880 PTHR10880, 1 hit
PTHR10880:SF26 PTHR10880:SF26, 1 hit
PfamiView protein in Pfam
PF05712 MRG, 1 hit
PF11717 Tudor-knot, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 1 hit
SUPFAMiSSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS51640 MRG, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMS3L1_HUMAN
AccessioniPrimary (citable) accession number: Q8N5Y2
Secondary accession number(s): A6NCU2
, A6NHW8, A8K165, B4DUV8, B7Z227, Q9UG70, Q9Y5Z8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: October 1, 2002
Last modified: September 12, 2018
This is version 154 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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