UMAD1 (UBAP1-MVB12-associated (UMA) domain containing 1)

2014-11-01  

Identity

HGNC
UMAD1
LOCATION
7p21.3
LOCUSID
729852
ALIAS
RPA3-AS1,RPA3OS

Other Information

Locus ID:

NCBI: 729852
HGNC: 48955
Ensembl: ENSG00000219545

Variants:

dbSNP: 729852
ClinVar: 729852
TCGA: ENSG00000219545
COSMIC: UMAD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000219545ENST00000463725A0A1B0GWD2
ENSG00000219545ENST00000482067A0A1B0GUC2
ENSG00000219545ENST00000636849C9J7I0
ENSG00000219545ENST00000638342A0A1W2PP33
ENSG00000219545ENST00000639110A0A1W2PP33
ENSG00000219545ENST00000639343A0A1W2PNU7

Expression (GTEx)

0
5
10
15
20
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
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
327371152020Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.17
327371152020Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.17

Citation

Dessen P

UMAD1 (UBAP1-MVB12-associated (UMA) domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75479/umad1-(ubap1-mvb12-associated-(uma)-domain-containing-1)