REPS1 (RALBP1 associated Eps domain containing 1)

2007-02-01  

Identity

HGNC
LOCATION
6q24.1
LOCUSID
ALIAS
NBIA7,RALBP1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
172737742007Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer.13
209468752010Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.11
171435222007RALBP1/RLIP76 mediates multidrug resistance.9

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/reps1