OFD1

Chr Xp22.2

OFD1 centriole and centriolar satellite protein

Aliases:: 71-7A, JBTS10
MANE:: ENST00000340096.11

OMIM: 300170 ↗NCBI: 8481 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

OFD1 · O75665

v62025-08-01

Predicted Aligned Error matrix for OFD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.1/ 100

Low

1,012 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)25%
Low(50–70)11%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness and congenital structural abnormalities
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ophthalmological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

orofaciodigital syndrome I
0.83
Joubert syndrome 10
0.80
Simpson-Golabi-Behmel syndrome type 2
0.73
Joubert syndrome
0.69
primary ciliary dyskinesia
0.68
Orofaciodigital syndrome type 1
0.68
Joubert syndrome with orofaciodigital defect
0.67
Simpson-Golabi-Behmel syndrome
0.66
retinitis pigmentosa 23
0.64
retinitis pigmentosa
0.50

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

Protein function (UniProt)

Centriole and centriolar satellite protein OFD1

Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity)