Gene
phldb1a
- ID
- ZDB-GENE-060526-272
- Name
- pleckstrin homology-like domain, family B, member 1a
- Symbol
- phldb1a Nomenclature History
- Previous Names
-
- phldb1
- si:dkey-252h13.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to be involved in regulation of microtubule cytoskeleton organization. Predicted to be active in basal cortex. Human ortholog(s) of this gene implicated in osteogenesis imperfecta. Orthologous to human PHLDB1 (pleckstrin homology like domain family B member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Osteogenesis imperfecta, type XXIII | 620639 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000253 | Forkhead-associated (FHA) domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR037810 | PHLDB1/2/3, PH domain |
Family | IPR052212 | Pleckstrin homology-like domain-containing protein |
Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Domain Details Per Protein
Protein | Length | Forkhead-associated (FHA) domain | PHLDB1/2/3, PH domain | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology-like domain-containing protein | SMAD/FHA domain superfamily |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9Q9E5
|
1424 | ||||||
UniProtKB:A0A8M9PL23
|
1382 | ||||||
UniProtKB:A0A8M3ASG1
|
1226 | ||||||
UniProtKB:A0A8M9Q464
|
1334 | ||||||
UniProtKB:A0A8M3B9Q8
|
1417 | ||||||
UniProtKB:A0A8M3ASK7
|
1385 | ||||||
UniProtKB:A0A8M3B2L8
|
1294 | ||||||
UniProtKB:A0A8N7TEA5
|
1425 | ||||||
UniProtKB:A0A2R8QUX6
|
1290 | ||||||
UniProtKB:A0A8M9PYP5
|
1374 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
phldb1a-201
(1)
|
Ensembl | 3,725 nt | ||
mRNA |
phldb1a-202
(1)
|
Ensembl | 4,244 nt | ||
mRNA |
phldb1a-203
(1)
|
Ensembl | 5,123 nt | ||
mRNA |
phldb1a-204
(1)
|
Ensembl | 4,511 nt | ||
mRNA |
phldb1a-205
(1)
|
Ensembl | 5,252 nt |
Interactions and Pathways
No data available
Plasmids
No data available