IFT81

Chr 12q24.11

intraflagellar transport 81

Aliases:: CDV-1R, MGC4027
MANE:: ENST00000242591.10

OMIM: 605489 ↗NCBI: 28981 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IFT81 · Q8WYA0

v62025-08-01

Predicted Aligned Error matrix for IFT81 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.1/ 100

Confident

676 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)64%
Low(50–70)6%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

short-rib thoracic dysplasia 19 with or without polydactyly
0.69
short rib dysplasia
0.55
short rib-polydactyly syndrome
0.53
Retinal dystrophy
0.46
atrial fibrillation
0.40
Short stature
0.32
Graves disease
0.32
retinitis pigmentosa
0.29
Cone rod dystrophy
0.29
cone-rod dystrophy
0.28

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

Protein function (UniProt)

Intraflagellar transport protein 81 homolog

Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:23990561, PubMed:27666822). Required for proper regulation of SHH signaling (PubMed:27666822). Plays an important role during spermatogenesis by modulating the assembly and elongation of the sperm flagella (By similarity)