Gene
porcn
- ID
- ZDB-GENE-081105-87
- Name
- porcupine O-acyltransferase
- Symbol
- porcn Nomenclature History
- Previous Names
-
- porcn1 (1)
- si:ch211-216k22.9
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable Wnt-protein binding activity and palmitoleoyltransferase activity. Acts upstream of or within Wnt protein secretion; convergent extension involved in gastrulation; and protein lipidation. Predicted to be active in endoplasmic reticulum and membrane. Is expressed in diencephalon; hindbrain; neural tube; spinal cord neural tube; and telencephalon. Human ortholog(s) of this gene implicated in focal dermal hypoplasia. Orthologous to human PORCN (porcupine O-acyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Chen et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chen et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa21268 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-porcn | N/A | Chen et al., 2012 |
| MO2-porcn | N/A | Chen et al., 2012 |
| MO3-porcn | N/A | Chen et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| focal dermal hypoplasia | Alliance | Focal dermal hypoplasia | 305600 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Lysophospholipid acyltransferase 7/Porcupine-like | Membrane bound O-acyl transferase, MBOAT |
|---|---|---|---|---|
| UniProtKB:A0A8M3B1X0 | InterPro | 461 | ||
| UniProtKB:B0S7W7 | InterPro | 442 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-216K22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001126481 (1) | |||
| Genomic | GenBank:BX927144 (1) | 168503 nt | ||
| Polypeptide | UniProtKB:A0A8M3B1X0 (1) | 461 aa |