ORC1

Chr 1p32.3

origin recognition complex subunit 1

Aliases:: HSORC1, PARC1
MANE:: ENST00000371568.8

OMIM: 601902 ↗NCBI: 4998 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ORC1 · Q13415

v62025-08-01

Predicted Aligned Error matrix for ORC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.4/ 100

Low

861 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)23%
Low(50–70)12%
Very low(< 50)33%

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
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Ear-patella-short stature syndrome
0.79
neurodegenerative disease
0.46
Meier-Gorlin syndrome
0.46
hereditary disease
0.40
microcephalic primordial dwarfism
0.37
neoplasm
0.08
cervical carcinoma
0.08
cervical cancer
0.08
prostate adenocarcinoma
0.07
hepatocellular carcinoma
0.07

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

Protein function (UniProt)

Mitochondrial ornithine transporter 1

Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine thus leading to an electroneutral transport. Plays a crucial role in the urea cycle, by connecting the cytosolic and the intramitochondrial reactions of the urea cycle (Probable) (PubMed:12807890, PubMed:22262851). Lysine and arginine are also transported by the antiport mechanism (Probable) (PubMed:12807890). In addition, catalyzes an electroneutral exchange of ornithine or lysine for H(+), a reaction driven by the pH gradient across the inner membrane (By similarity)