UIMC1 (ubiquitin interaction motif containing 1)

2007-06-01  

Identity

HGNC
UIMC1
LOCATION
5q35.2
LOCUSID
51720
ALIAS
RAP80,X2HRIP110
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51720
MIM: 609433
HGNC: 30298
Ensembl: ENSG00000087206

Variants:

dbSNP: 51720
ClinVar: 51720
TCGA: ENSG00000087206
COSMIC: UIMC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087206ENST00000377227Q96RL1
ENSG00000087206ENST00000377227A0A024R7R0
ENSG00000087206ENST00000428382D6R9M3
ENSG00000087206ENST00000506128Q96RL1
ENSG00000087206ENST00000507513D6RDZ5
ENSG00000087206ENST00000509236D6RC40
ENSG00000087206ENST00000510698Q96RL1
ENSG00000087206ENST00000511320Q96RL1
ENSG00000087206ENST00000511320A0A024R7R0
ENSG00000087206ENST00000512031D6RCQ3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Homologous recombinationKEGGko03440
Homologous recombinationKEGGhsa03440
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

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
175253412007RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites.311
175253402007Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.310
175253422007Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response.255
180773952007Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage.222
194486212009Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.142
214065512011RAP80-directed tuning of BRCA1 homologous recombination function at ionizing radiation-induced nuclear foci.101
193280702009Linkage-specific avidity defines the lysine 63-linked polyubiquitin-binding preference of rap80.95
213356042011The BRCA1-RAP80 complex regulates DNA repair mechanism utilization by restricting end resection.94
192617462009MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks.78
176216102007The ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response.73

Citation

Dessen P

UIMC1 (ubiquitin interaction motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47566/uimc1-(ubiquitin-interaction-motif-containing-1)