Gene

pycr1a

ID

ZDB-GENE-040426-1675

Name

pyrroline-5-carboxylate reductase 1a

Symbol

pycr1a Nomenclature History

Previous Names

pycr1
zgc:73112 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have pyrroline-5-carboxylate reductase activity. Predicted to be involved in L-proline biosynthetic process. Used to study autosomal recessive cutis laxa type IIB. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIB and autosomal recessive cutis laxa type IIIB. Orthologous to human PYCR1 (pyrroline-5-carboxylate reductase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Prykhozhij et al., 2017

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pycr1a 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 pycr1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
autosomal recessive cutis laxa type IIB	pycr1a^cy51/cy51 (AB)	standard conditions	Liang et al., 2019

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:Q6P971 InterPro	320

Transcripts

Genome Browsers

UCSC

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pycr1a-201 (1) Ensembl	Havana	2551 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	pycr1a-002 (1) Ensembl	Havana	346 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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