MIS18BP1 (MIS18 binding protein 1)

2014-11-01  

Identity

HGNC
MIS18BP1
LOCATION
14q21.2
LOCUSID
55320
ALIAS
C14orf106,HSA242977,KNL2,M18BP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55320
MIM: 618139
HGNC: 20190
Ensembl: ENSG00000129534

Variants:

dbSNP: 55320
ClinVar: 55320
TCGA: ENSG00000129534
COSMIC: MIS18BP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129534ENST00000310806Q6P0N0
ENSG00000129534ENST00000451174C9J2Q8
ENSG00000129534ENST00000453142H7C1S6
ENSG00000129534ENST00000454990G5E9K5
ENSG00000129534ENST00000554093H0YJM1
ENSG00000129534ENST00000627697G5E9K5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Nucleosome assemblyREACTOMER-HSA-774815
Deposition of new CENPA-containing nucleosomes at the centromereREACTOMER-HSA-606279

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
171990382007Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1.158
225400252012CENP-C facilitates the recruitment of M18BP1 to centromeric chromatin.54
280597022017CDK-regulated dimerization of M18BP1 on a Mis18 hexamer is necessary for CENP-A loading.16
289514432017Converging Small Ubiquitin-like Modifier (SUMO) and Ubiquitin Signaling: Improved Methodology Identifies Co-modified Target Proteins.7

Citation

Dessen P

MIS18BP1 (MIS18 binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70324/mis18bp1