Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10943
Gene name Gene Name - the full gene name approved by the HGNC.	MSL complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MSL3
Synonyms (NCBI Gene) Gene synonyms aliases	MRSXBA, MRXS36, MRXSBA, MSL3L1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females.

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs768515139	C>-,CC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555906707	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555906768	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555906781	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555907215	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907620	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555907623	ATTGTTTG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907626	G>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555907653	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907864	GC>A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1601769604	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601769873	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601774648	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all(112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049772	hsa-miR-92a-3p	qRT-PCR	23622248
MIRT051352	hsa-let-7f-5p	CLASH	23622248
MIRT051183	hsa-miR-16-5p	CLASH	23622248
MIRT050657	hsa-miR-18a-5p	CLASH	23622248
MIRT050069	hsa-miR-26a-5p	CLASH	23622248
MIRT049772	hsa-miR-92a-3p	CLASH	23622248
MIRT048163	hsa-miR-196a-5p	CLASH	23622248
MIRT048029	hsa-miR-148a-3p	CLASH	23622248
MIRT047555	hsa-miR-10a-5p	CLASH	23622248
MIRT047419	hsa-miR-10b-5p	CLASH	23622248
MIRT045319	hsa-miR-185-5p	CLASH	23622248
MIRT045135	hsa-miR-186-5p	CLASH	23622248
MIRT042164	hsa-miR-484	CLASH	23622248
MIRT039372	hsa-miR-421	CLASH	23622248
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT1161691	hsa-miR-103a	CLIP-seq
MIRT1161692	hsa-miR-107	CLIP-seq
MIRT1161693	hsa-miR-122	CLIP-seq
MIRT1161694	hsa-miR-1228	CLIP-seq
MIRT1161695	hsa-miR-129-5p	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT1161697	hsa-miR-2277-3p	CLIP-seq
MIRT1161698	hsa-miR-3145-3p	CLIP-seq
MIRT1161699	hsa-miR-3184	CLIP-seq
MIRT1161700	hsa-miR-3189-5p	CLIP-seq
MIRT1161701	hsa-miR-3198	CLIP-seq
MIRT1161702	hsa-miR-3647-3p	CLIP-seq
MIRT1161703	hsa-miR-365	CLIP-seq
MIRT1161704	hsa-miR-370	CLIP-seq
MIRT1161705	hsa-miR-423-5p	CLIP-seq
MIRT1161706	hsa-miR-4309	CLIP-seq
MIRT1161707	hsa-miR-4514	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT1161711	hsa-miR-4692	CLIP-seq
MIRT1161712	hsa-miR-4705	CLIP-seq
MIRT1161713	hsa-miR-4711-3p	CLIP-seq
MIRT1161714	hsa-miR-4729	CLIP-seq
MIRT1161715	hsa-miR-4738-3p	CLIP-seq
MIRT1161716	hsa-miR-4758-3p	CLIP-seq
MIRT1161717	hsa-miR-4766-5p	CLIP-seq
MIRT1161718	hsa-miR-4794	CLIP-seq
MIRT1161719	hsa-miR-566	CLIP-seq
MIRT1161720	hsa-miR-654-3p	CLIP-seq
MIRT2046406	hsa-miR-27a	CLIP-seq
MIRT2046407	hsa-miR-27b	CLIP-seq
MIRT2046408	hsa-miR-409-3p	CLIP-seq
MIRT2046409	hsa-miR-4760-5p	CLIP-seq
MIRT2046410	hsa-miR-513a-5p	CLIP-seq
MIRT2275487	hsa-miR-1225-3p	CLIP-seq
MIRT2275488	hsa-miR-4323	CLIP-seq
MIRT2275489	hsa-miR-4761-5p	CLIP-seq
MIRT2574357	hsa-miR-1208	CLIP-seq
MIRT2574358	hsa-miR-1273g	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT2574359	hsa-miR-3140-3p	CLIP-seq
MIRT2574360	hsa-miR-3672	CLIP-seq
MIRT2574361	hsa-miR-3973	CLIP-seq
MIRT2574362	hsa-miR-423-3p	CLIP-seq
MIRT2574363	hsa-miR-4420	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT2574364	hsa-miR-4638-5p	CLIP-seq
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT2574365	hsa-miR-4797-5p	CLIP-seq
MIRT2574366	hsa-miR-502-5p	CLIP-seq
MIRT2574367	hsa-miR-518a-5p	CLIP-seq
MIRT2574368	hsa-miR-527	CLIP-seq
MIRT2574369	hsa-miR-548a-5p	CLIP-seq
MIRT2574370	hsa-miR-548ab	CLIP-seq
MIRT2574371	hsa-miR-548ak	CLIP-seq
MIRT2574372	hsa-miR-548b-5p	CLIP-seq
MIRT2574373	hsa-miR-548c-5p	CLIP-seq
MIRT2574374	hsa-miR-548d-5p	CLIP-seq
MIRT2574375	hsa-miR-548h	CLIP-seq
MIRT2574376	hsa-miR-548i	CLIP-seq
MIRT2574377	hsa-miR-548j	CLIP-seq
MIRT2574378	hsa-miR-548w	CLIP-seq
MIRT2574379	hsa-miR-548y	CLIP-seq
MIRT2574380	hsa-miR-559	CLIP-seq
MIRT2574357	hsa-miR-1208	CLIP-seq
MIRT2275487	hsa-miR-1225-3p	CLIP-seq
MIRT2574358	hsa-miR-1273g	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT2574359	hsa-miR-3140-3p	CLIP-seq
MIRT2685386	hsa-miR-3613-3p	CLIP-seq
MIRT2574360	hsa-miR-3672	CLIP-seq
MIRT2685387	hsa-miR-3945	CLIP-seq
MIRT2574362	hsa-miR-423-3p	CLIP-seq
MIRT2685388	hsa-miR-4253	CLIP-seq
MIRT2275488	hsa-miR-4323	CLIP-seq
MIRT2574363	hsa-miR-4420	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT2574364	hsa-miR-4638-5p	CLIP-seq
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT2275489	hsa-miR-4761-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT2574365	hsa-miR-4797-5p	CLIP-seq
MIRT2574366	hsa-miR-502-5p	CLIP-seq
MIRT2574367	hsa-miR-518a-5p	CLIP-seq
MIRT2574368	hsa-miR-527	CLIP-seq
MIRT2685389	hsa-miR-541	CLIP-seq
MIRT2685390	hsa-miR-654-5p	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IDA	20657587
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	30224647, 32814053
GO:0005634	Component	Nucleus	IDA	16227571, 30224647
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	30224647
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11742995, 11965546, 22547026
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	20657587
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISO
GO:0072487	Component	MSL complex	IBA
GO:0072487	Component	MSL complex	IDA	20018852, 30224647, 33837287
GO:0072487	Component	MSL complex	IEA
GO:0140046	Function	Histone H4K16ac reader activity	IDA	20657587
GO:0140566	Function	Histone reader activity	IDA	20657587

MIM	HGNC	e!Ensembl
300609	7370	ENSG00000005302

Protein

UniProt ID

Q8N5Y2

Protein name

MSL complex subunit 3 (Male-specific lethal 3 homolog) (Male-specific lethal-3 homolog 1) (Male-specific lethal-3 protein-like 1) (MSL3-like 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

2Y0N , 3OA6 , 3OB9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11717	Tudor-knot	11 → 74	RNA binding activity-knot of a chromodomain	Family
PF05712	MRG	151 → 506	MRG	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in many tissues including liver, pancreas, heart, lung, kidney, skeletal muscle, brain, and placenta, with highest expression in skeletal muscle and heart. {ECO:0000269|PubMed:10395802}.

Sequence

MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAKIVDVIVGKDEKGRKIPEYLIHFNGWN
RSWDRWAAEDHVLRDTDENRRLQRKLARKAVARLRSTGRKKKRCRLPGVDSVLKGLPTEE
KDENDENSLSSSSDCSENKDEEISEESDIEEKTEVKEEPELQTRREMEERTITIEIPEVL
KKQLEDDCYYINRRKRLVKLPCQTNIITILESYVKHFAINAAFSANERPRHHHVMPHANM
NVHYIPAEKNVDLCKEMVDGLRITFDYTLPLVLLYPYEQAQYKKVTSSKFFLPIKESATS
TNRSQEELSPSPPLLNPSTPQSTESQPTTGEPATPKRRKAEPEALQSLRRSTRHSANCDR
LSESSASPQPKRRQQDTSASMPKLFLHLEKKTPVHSRSSSPIPLTPSKEGSAVFAGFEGR
RTNEINEVLSWKLVPDNYPPGDQPPPPSYIYGAQHLLRLFVKLPEILGKMSFSEKNLKAL
LKHFDLFLRFLAEYHDDFFPESAYVAACEAHYSTKNPRAIY

Sequence length

521

Interactions

View interactions

	Reactome
			HATs acetylate histones

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental Delay	global developmental delay	rs1601769604	N/A
Mental retardation	intellectual disability	rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864	N/A

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colitis Ulcerative	Associate	38274809
Developmental Disabilities	Associate	33173220
Genetic Diseases X Linked	Associate	33173220
Intellectual Disability	Associate	33173220
Ovarian Neoplasms	Associate	31578411
Signs and Symptoms Digestive	Associate	33173220
Syndrome	Associate	33173220

MSL3 (MSL complex subunit 3)