RIT1

Chr 1q22

Ras like without CAAX 1

Aliases:: RIBB, ROC1, MGC125864, MGC125865
MANE:: ENST00000368323.8

OMIM: 609591 ↗NCBI: 6016 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RIT1 · Q92963

v62025-08-01

Predicted Aligned Error matrix for RIT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.1/ 100

Confident

219 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)11%
Low(50–70)12%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

Noonan syndrome
0.84
RASopathy
0.65
Noonan syndrome and Noonan-related syndrome
0.53
Abnormality of the cardiovascular system
0.53
hereditary disease
0.46
Non-immune hydrops fetalis
0.43
congenital heart disease
0.34
Short stature
0.27
Pedal edema
0.27
Hypertelorism
0.27

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

Protein function (UniProt)

B-cell lymphoma/leukemia 11B

Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity)