DISP1: Dispatched RND Transporter Family Member 1
Key regulator of Hedgehog signaling and developmental patterning
Gene Information Card
| Symbol | DISP1 |
|---|---|
| Full Name | Dispatched RND Transporter Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41-q42.1 |
| NCBI Gene ID | 84976 ncbi.nlm.nih.gov/gene/84976 |
| Ensembl ID | ENSG00000134202 |
| UniProt ID | Q96F27 |
| OMIM ID | 607502 |
| HGNC ID | 19711 |
| Aliases | DKFZp434C241, FLJ21511, KIAA1992 |
Description
DISP1 encodes a transmembrane protein that is essential for the release and long-range diffusion of Hedgehog (Hh) ligands. It functions as a cholesterol-dependent transporter that mediates the secretion of Sonic Hedgehog (SHH) from producing cells, thereby regulating embryonic patterning and tissue homeostasis. Mutations in DISP1 disrupt Hh signaling and are associated with holoprosencephaly and other developmental anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Holoprosencephaly | Loss-of-function mutations impair SHH secretion, leading to failed forebrain division | ClinVar, OMIM |
| Ciliopathy-related phenotypes | DISP1 interacts with ciliary transport mechanisms; disruption affects Hh signaling | NCBI Gene, PubMed |
| Currarino syndrome (possible) | Impaired SHH gradient formation may contribute to sacral agenesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Lung | 1.8 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 2.5 | Low |
| Testis | 4.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 2.3 | Low expression |
| SH-SY5Y | 3.8 | Neuronal lineage |
| HepG2 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | Unknown | Likely damaging; reduced SHH secretion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing SHH release and signaling.
Gain of Function (GOF)
Not reported for DISP1.
Dominant Negative (DN)
Not reported for DISP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005789 (GO:0005789) | • GO:0016021 (GO:0016021) |
| • GO:0007224 (GO:0007224) | • GO:0015031 (GO:0015031) |
| • GO:0005886 (GO:0005886) |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Signaling by Hedgehog (Reactome: R-HSA-5358346)
Protein Summary
DISP1 is a 12-pass transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It contains a sterol-sensing domain (SSD) critical for cholesterol-dependent release of SHH. The protein forms oligomers and facilitates the export of lipid-modified Hh ligands, enabling paracrine signaling. Defects in DISP1 lead to impaired Hh gradient formation and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DISP1 Knockout HEK293 Cell Line | EDJ-KQ891 | Human | 84976 | Details Get a Quote |
| DISP1 Knockout A-549 Cell Line | EDJ-KQ19728 | Human | 84976 | Details Get a Quote |
| DISP1 Knockout HCT 116 Cell Line | EDJ-KQ19729 | Human | 84976 | Details Get a Quote |
| DISP1 Knockout HeLa Cell Line | EDJ-KQ19730 | Human | 84976 | Details Get a Quote |
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