RINT1

Chr 7q22.3

RAD50 interactor 1

Aliases:: FLJ11785, RINT-1
MANE:: ENST00000257700.7

OMIM: 610089 ↗NCBI: 60561 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RINT1 · Q6NUQ1

v62025-08-01

Predicted Aligned Error matrix for RINT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.1/ 100

Confident

792 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)23%
Low(50–70)8%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Cholestasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

infantile liver failure syndrome 3
0.70
Acute infantile liver failure-multisystemic involvement syndrome
0.60
Fulminant hepatic failure
0.42
thyroid cancer, nonmedullary, 1
0.40
Hepatic failure
0.37
liver failure
0.37
hereditary spastic paraplegia
0.37
infantile liver failure syndrome 2
0.37
infantile liver failure
0.37
short stature due to GHSR deficiency
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RAD50-interacting protein 1

Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870)