RINT1 (RAD50 interactor 1)

2003-02-01 Affiliation

Identity

HGNC

RINT1

LOCATION

7q22.3

LOCUSID

60561

ALIAS

ILFS3,RINT-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 60561
MIM: 610089
HGNC: 21876
Ensembl: ENSG00000135249

Variants:

dbSNP: 60561
ClinVar: 60561
TCGA: ENSG00000135249
COSMIC: RINT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135249	ENST00000257700	Q6NUQ1
ENSG00000135249	ENST00000467392	F8WC46
ENSG00000135249	ENST00000482041	F8WAZ2
ENSG00000135249	ENST00000493041	C9J5S3
ENSG00000135249	ENST00000497979	F8WDC5

Expression (GTEx)

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-dependent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811434

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33531371	2021	RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer.	6
33531371	2021	RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer.	6
31204009	2019	RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.	17
31204009	2019	RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.	17
28031358	2017	Association of Human Papillomavirus 16 E2 with Rad50-Interacting Protein 1 Enhances Viral DNA Replication.	3
28264000	2017	Evaluation of Rint1 as a modifier of intestinal tumorigenesis and cancer risk.	2
28031358	2017	Association of Human Papillomavirus 16 E2 with Rad50-Interacting Protein 1 Enhances Viral DNA Replication.	3
28264000	2017	Evaluation of Rint1 as a modifier of intestinal tumorigenesis and cancer risk.	2
27530925	2016	RINT-1 interacts with MSP58 within nucleoli and plays a role in ribosomal gene transcription.	3
27544226	2016	Reevaluation of RINT1 as a breast cancer predisposition gene.	9
27530925	2016	RINT-1 interacts with MSP58 within nucleoli and plays a role in ribosomal gene transcription.	3
27544226	2016	Reevaluation of RINT1 as a breast cancer predisposition gene.	9
25304616	2015	Expression of RINT1 predicts seizure occurrence and outcomes in patients with low-grade gliomas.	4
25304616	2015	Expression of RINT1 predicts seizure occurrence and outcomes in patients with low-grade gliomas.	4
25050558	2014	Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.	27

Citation

Dessen P

RINT1 (RAD50 interactor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42118/favicon/css/lib/gene-fusions/?id=42118