UHRF1BP1L (UHRF1 binding protein 1 like)

2014-08-01  

Identity

HGNC
UHRF1BP1L
LOCATION
12q23.1
LOCUSID
23074
ALIAS
SHIP164
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23074
HGNC: 29102
Ensembl: ENSG00000111647

Variants:

dbSNP: 23074
ClinVar: 23074
TCGA: ENSG00000111647
COSMIC: UHRF1BP1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111647ENST00000279907A0JNW5
ENSG00000111647ENST00000356828A0JNW5
ENSG00000111647ENST00000545232A0A0C4DGH6
ENSG00000111647ENST00000547428F8VRN3
ENSG00000111647ENST00000548045F8VW65
ENSG00000111647ENST00000548712H0YHT7
ENSG00000111647ENST00000550544F8W1I2
ENSG00000111647ENST00000551973F8W665
ENSG00000111647ENST00000551980F8VWX2

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
201635652010A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-dependent sorting from early endosomes.11
234228192013Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.9

Citation

Dessen P

UHRF1BP1L (UHRF1 binding protein 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54752/uhrf1bp1l