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 enable pyrroline-5-carboxylate reductase activity. Acts upstream of or within brain development. Predicted to be located in intracellular organelle lumen and mitochondrion. 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 | Additional Resources | 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 | InterPro | 362 | ||||||
| UniProtKB:F1RDD0 | InterPro | 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