REPS1 (RALBP1 associated Eps domain containing 1)

2007-02-01  

Identity

HGNC
REPS1
LOCATION
6q24.1
LOCUSID
85021
ALIAS
NBIA7,RALBP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85021
MIM: 614825
HGNC: 15578
Ensembl: ENSG00000135597

Variants:

dbSNP: 85021
ClinVar: 85021
TCGA: ENSG00000135597
COSMIC: REPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135597ENST00000258062Q96D71
ENSG00000135597ENST00000367663Q96D71
ENSG00000135597ENST00000409812Q96D71
ENSG00000135597ENST00000414243H7C225
ENSG00000135597ENST00000415951E9PMG1
ENSG00000135597ENST00000431346H7C1V2
ENSG00000135597ENST00000445570F2Z3L2
ENSG00000135597ENST00000450536Q96D71
ENSG00000135597ENST00000478483H0YCR2
ENSG00000135597ENST00000483468F2Z3L2
ENSG00000135597ENST00000526022H0YE89
ENSG00000135597ENST00000529597H0YDT0
ENSG00000135597ENST00000530255H0YE73
ENSG00000135597ENST00000530575H0YCF0
ENSG00000135597ENST00000626459F2Z3L2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
334079992021Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor.0
334079992021Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor.0
209468752010Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.19
209468752010Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.19
171435222007RALBP1/RLIP76 mediates multidrug resistance.14
172737742007Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer.16
171435222007RALBP1/RLIP76 mediates multidrug resistance.14
172737742007Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer.16

Citation

Dessen P

REPS1 (RALBP1 associated Eps domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45918/favicon/js/lib/zoomerang.js