DISP1

Chr 1q41

dispatched RND transporter family member 1

Aliases:: DISPA, MGC13130, DKFZP434I0428, MGC16796
MANE:: ENST00000675850.1

OMIM: 607502 ↗NCBI: 84976 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DISP1 · Q96F81

v62025-08-01

Predicted Aligned Error matrix for DISP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.9/ 100

Low

1,524 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)26%
Low(50–70)6%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease

Disease associations (Open Targets)

holoprosencephaly 10
0.60
microform holoprosencephaly
0.42
lobar holoprosencephaly
0.40
alobar holoprosencephaly
0.38
septopreoptic holoprosencephaly
0.38
semilobar holoprosencephaly
0.37
midline interhemispheric variant of holoprosencephaly
0.37
inborn disorder of amino acid metabolism
0.25
myocardial infarction
0.25
placenta praevia
0.24

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

Protein function (UniProt)

Protein dispatched homolog 1

Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404)