PROM1 (prominin 1)

2003-12-01  

Identity

HGNC
PROM1
LOCATION
4p15.32
LOCUSID
8842
ALIAS
AC133,CD133,CORD12,MCDR2,MSTP061,PROML1,RP41,STGD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8842
MIM: 604365
HGNC: 9454
Ensembl: ENSG00000007062

Variants:

dbSNP: 8842
ClinVar: 8842
TCGA: ENSG00000007062
COSMIC: PROM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007062ENST00000447510O43490
ENSG00000007062ENST00000503884H0Y9D4
ENSG00000007062ENST00000505450O43490
ENSG00000007062ENST00000505450A0A0A0N0M1
ENSG00000007062ENST00000508167O43490
ENSG00000007062ENST00000508167A0A0A0N0M1
ENSG00000007062ENST00000508322D6RIF3
ENSG00000007062ENST00000508940D6RBI0
ENSG00000007062ENST00000510224O43490
ENSG00000007062ENST00000511153H0Y9M7
ENSG00000007062ENST00000513946H0Y9Q5
ENSG00000007062ENST00000514967D6RCC3
ENSG00000007062ENST00000539194O43490
ENSG00000007062ENST00000540805O43490

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

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
370805902024Deep phenotyping of PROM1-associated retinal degeneration.2
379221082024Functional Roles of CD133: More than Stemness Associated Factor Regulated by the Microenvironment.2
379566772024Emergence of bedaquiline-resistant tuberculosis and of multidrug-resistant and extensively drug-resistant Mycobacterium tuberculosis strains with rpoB Ile491Phe mutation not detected by Xpert MTB/RIF in Mozambique: a retrospective observational study.3
382857912024CD133, CD47, and PD-L1 Expression in Ovarian High-grade Serous Carcinoma and Its Association with Metastatic Disease: A Cross-sectional Study.0
383657312024High CD133 expression in proximal tubular cells in diabetic kidney disease: good or bad?0
387273132024CD133 Stimulates Cell Proliferation via the Upregulation of Amphiregulin in Melanoma.0
389567272024Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.0
370805902024Deep phenotyping of PROM1-associated retinal degeneration.2
379221082024Functional Roles of CD133: More than Stemness Associated Factor Regulated by the Microenvironment.2
379566772024Emergence of bedaquiline-resistant tuberculosis and of multidrug-resistant and extensively drug-resistant Mycobacterium tuberculosis strains with rpoB Ile491Phe mutation not detected by Xpert MTB/RIF in Mozambique: a retrospective observational study.3
382857912024CD133, CD47, and PD-L1 Expression in Ovarian High-grade Serous Carcinoma and Its Association with Metastatic Disease: A Cross-sectional Study.0
383657312024High CD133 expression in proximal tubular cells in diabetic kidney disease: good or bad?0
387273132024CD133 Stimulates Cell Proliferation via the Upregulation of Amphiregulin in Melanoma.0
389567272024Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.0
345715502023Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.2

Citation

Dessen P

PROM1 (prominin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41874/prom1-(prominin-1)