Gene
pycr1b
- ID
- ZDB-GENE-050522-26
- Name
- pyrroline-5-carboxylate reductase 1b
- Symbol
- pycr1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have pyrroline-5-carboxylate reductase activity. Involved in brain development. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIB; autosomal recessive cutis laxa type IIIB; and hypomyelinating leukodystrophy 10. Orthologous to several human genes including PYCR1 (pyrroline-5-carboxylate reductase 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:7158060 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive cutis laxa type IIB | Alliance | Cutis laxa, autosomal recessive, type IIB | 612940 |
| autosomal recessive cutis laxa type IIIB | Alliance | Cutis laxa, autosomal recessive, type IIIB | 614438 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR053790 | Pyrroline-5-carboxylate reductase-like conserved site |
| Domain | IPR028939 | Pyrroline-5-carboxylate reductase, catalytic, N-terminal |
| Domain | IPR029036 | Pyrroline-5-carboxylate reductase, dimerisation domain |
| Family | IPR000304 | Pyrroline-5-carboxylate reductase-like |
| Homologous_superfamily | IPR008927 | 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily | NAD(P)-binding domain superfamily | Pyrroline-5-carboxylate reductase, catalytic, N-terminal | Pyrroline-5-carboxylate reductase, dimerisation domain | Pyrroline-5-carboxylate reductase-like | Pyrroline-5-carboxylate reductase-like conserved site |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q700
|
362 | ||||||
|
UniProtKB:F1RDD0
|
317 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pycr1b-201
(1)
|
Ensembl | 2,084 nt | ||
| mRNA |
pycr1b-202
(1)
|
Ensembl | 2,090 nt | ||
| mRNA |
pycr1b-203
(1)
|
Ensembl | 6,134 nt |
Interactions and Pathways
No data available
Plasmids
No data available