MSL3 (MSL complex subunit 3)

2014-11-01  

Identity

HGNC
MSL3
LOCATION
Xp22.2
LOCUSID
10943
ALIAS
MRSXBA,MRXS36,MRXSBA,MSL3L1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10943
MIM: 300609
HGNC: 7370
Ensembl: ENSG00000005302

Variants:

dbSNP: 10943
ClinVar: 10943
TCGA: ENSG00000005302
COSMIC: MSL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005302ENST00000312196Q8N5Y2
ENSG00000005302ENST00000337339Q8N5Y2
ENSG00000005302ENST00000361672Q8N5Y2
ENSG00000005302ENST00000380691H7BYE4
ENSG00000005302ENST00000380692A6NLU8
ENSG00000005302ENST00000380693A0A3F2YNX2
ENSG00000005302ENST00000398527Q8N5Y2
ENSG00000005302ENST00000421368C9JKR8
ENSG00000005302ENST00000467141A0A3B3ISB4
ENSG00000005302ENST00000468149F8WC61
ENSG00000005302ENST00000476743C9JXM9
ENSG00000005302ENST00000482871Q8N5Y2
ENSG00000005302ENST00000483645A0A3B3IU53
ENSG00000005302ENST00000647599A0A3B3IT49
ENSG00000005302ENST00000647839A0A3B3ITX5
ENSG00000005302ENST00000647857A0A3B3ITF3
ENSG00000005302ENST00000647869A0A3B3IT59
ENSG00000005302ENST00000648013Q8N5Y2
ENSG00000005302ENST00000648120A0A3B3IS16
ENSG00000005302ENST00000648287A0A3B3IRN2
ENSG00000005302ENST00000648545A0A3B3ITV8
ENSG00000005302ENST00000648614A0A3B3ITH5
ENSG00000005302ENST00000648656A0A3B3ITF8
ENSG00000005302ENST00000648692A0A3B3IRT2
ENSG00000005302ENST00000649078Q8N5Y2
ENSG00000005302ENST00000649130A0A3B3ITL5
ENSG00000005302ENST00000649271Q8N5Y2
ENSG00000005302ENST00000649420A0A3B3IUB0
ENSG00000005302ENST00000649602Q8N5Y2
ENSG00000005302ENST00000649649Q8N5Y2
ENSG00000005302ENST00000649685Q8N5Y2
ENSG00000005302ENST00000649785A0A3B3IRI6
ENSG00000005302ENST00000649797A0A3B3IU80
ENSG00000005302ENST00000649851A0A3B3IS72
ENSG00000005302ENST00000650106A0A3B3ITX5
ENSG00000005302ENST00000650215Q8N5Y2
ENSG00000005302ENST00000650370A0A3B3IU64
ENSG00000005302ENST00000650628Q8N5Y2

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
331732202021Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.3
331732202021Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.3
302246472018De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.19
302246472018De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.19
209436662010Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4.23
209436662010Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4.23
162275712005A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.170
162275712005A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.170

Citation

Dessen P

MSL3 (MSL complex subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70519