Gene
prom1b
- ID
- ZDB-GENE-031003-1
- Name
- prominin 1 b
- Symbol
- prom1b Nomenclature History
- Previous Names
-
- proml2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have cholesterol binding activity. Localizes to apical plasma membrane. Human ortholog(s) of this gene implicated in cone-rod dystrophy 12 and retinitis pigmentosa 41. Is expressed in nervous system; otic vesicle; and testis. Orthologous to human PROM1 (prominin 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 19 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146277 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 9 figures from Lu et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
cone-rod dystrophy 12 | Alliance | Cone-rod dystrophy 12 | 612657 |
retinal macular dystrophy 2 | Alliance | Macular dystrophy, retinal, 2 | 608051 |
retinitis pigmentosa 41 | Alliance | Retinitis pigmentosa 41 | 612095 |
Stargardt disease | Alliance | Stargardt disease 4 | 603786 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR008795 | Prominin |
Domain Details Per Protein
Protein | Length | Prominin |
---|---|---|
UniProtKB:A0A8M9QPM2
|
877 | |
UniProtKB:A0A8M2BI60
|
867 | |
UniProtKB:A0A8M9QPR6
|
866 | |
UniProtKB:A0A8M9QH22
|
872 | |
UniProtKB:A0A8M9Q036
|
874 | |
UniProtKB:A0A8M9Q021
|
875 | |
UniProtKB:A0A8M9QPL4
|
880 | |
UniProtKB:Q90WI3
|
851 | |
UniProtKB:A0A8M9QBM3
|
883 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
prom1b-201
(1)
|
Ensembl | 3,885 nt | ||
mRNA |
prom1b-202
(1)
|
Ensembl | 546 nt | ||
mRNA |
prom1b-203
(1)
|
Ensembl | 371 nt | ||
mRNA |
prom1b-204
(1)
|
Ensembl | 2,556 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-prom1b | polyclonal | Rabbit |
|
1 |
Plasmids
No data available