RCC1

Chr 1p35.3

regulator of chromosome condensation 1

MANE:: ENST00000683442.1

OMIM: 179710 ↗NCBI: 1104 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RCC1 · P18754

v62025-08-01

Predicted Aligned Error matrix for RCC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.8/ 100

Very high

421 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.34
myasthenia gravis
0.33
injury
0.23
neoplasm
0.10
cancer
0.09
cervical carcinoma
0.08
cervical cancer
0.08
colorectal carcinoma
0.08
hepatocellular carcinoma
0.08
nonpapillary renal cell carcinoma
0.08

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

Protein function (UniProt)

Regulator of chromosome condensation

Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:11336674, PubMed:17435751, PubMed:1944575, PubMed:20668449, PubMed:22215983, PubMed:29042532). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580)