Gene
pacs1a
- ID
- ZDB-GENE-050208-244
- Name
- phosphofurin acidic cluster sorting protein 1a
- Symbol
- pacs1a Nomenclature History
- Previous Names
-
- pacs1
- im:7146683
- zgc:162891 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have ion channel binding activity. Predicted to be involved in protein localization to plasma membrane. Human ortholog(s) of this gene implicated in Schuurs-Hoeijmakers Syndrome. Orthologous to human PACS1 (phosphofurin acidic cluster sorting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146683 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Fu et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Schuurs-Hoeijmakers Syndrome | Alliance | Schuurs-Hoeijmakers syndrome | 615009 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019381 | Phosphofurin acidic cluster sorting protein 1 |
Domain Details Per Protein
| Protein | Length | Phosphofurin acidic cluster sorting protein 1 |
|---|---|---|
|
UniProtKB:A5PKS9
|
909 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pacs1a-201
(1)
|
Ensembl | 3,396 nt |
Interactions and Pathways
No data available
Plasmids
No data available