Gene

pycr1b

ID
ZDB-GENE-050522-26
Name
pyrroline-5-carboxylate reductase 1b
Symbol
pycr1b Nomenclature History
Previous Names
  • pycr2 (2)
  • zgc:110655 (1)
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
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pycr1b Human Ortholog
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
Associated With pycr1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR028939 Pyrroline-5-carboxylate reductase, catalytic, N-terminal
Domain IPR029036 Pyrroline-5-carboxylate reductase, dimerisation domain
Family IPR000304 Pyrroline-5-carboxylate reductase
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 Pyrroline-5-carboxylate reductase, catalytic, N-terminal Pyrroline-5-carboxylate reductase, dimerisation domain
UniProtKB:A0A8M9Q700 362
UniProtKB:F1RDD0 317
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations