MNS1 (meiosis specific nuclear structural 1)

2014-11-01  

Identity

HGNC
MNS1
LOCATION
15q21.3
LOCUSID
55329
ALIAS
HTX9,SPATA40

Other Information

Locus ID:

NCBI: 55329
MIM: 610766
HGNC: 29636
Ensembl: ENSG00000138587

Variants:

dbSNP: 55329
ClinVar: 55329
TCGA: ENSG00000138587
COSMIC: MNS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138587ENST00000260453Q8NEH6

Expression (GTEx)

0
50
100
150
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
389206472024Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.0
389206472024Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.0
330371732021A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.6
335065652021MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating β-catenin and predicts poor prognosis.2
330371732021A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.6
335065652021MNS1 promotes hepatocarcinogenesis and metastasis via activating PI3K/AKT by translocating β-catenin and predicts poor prognosis.2
315342152020MNS1 variant associated with situs inversus and male infertility.13
315342152020MNS1 variant associated with situs inversus and male infertility.13
301488302018Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.25
301488302018Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.25
159429582005Proteomics profiling of nuclear proteins for kidney fibroblasts suggests hypoxia, meiosis, and cancer may meet in the nucleus.21
159429582005Proteomics profiling of nuclear proteins for kidney fibroblasts suggests hypoxia, meiosis, and cancer may meet in the nucleus.21
80326791994cDNA cloning and functional characterization of a meiosis-specific protein (MNS1) with apparent nuclear association.11
80326791994cDNA cloning and functional characterization of a meiosis-specific protein (MNS1) with apparent nuclear association.11

Citation

Dessen P

MNS1 (meiosis specific nuclear structural 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70354/mns1-(meiosis-specific-nuclear-structural-1)