ZFIN is now using GRCz12tu for Genomic Data

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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable 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; 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 Prykhozhij et al., 2017

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Conserved_site	IPR018000	Neurotransmitter-gated ion-channel, conserved site
Conserved_site	IPR053790	Pyrroline-5-carboxylate reductase-like conserved site
Domain	IPR006029	Neurotransmitter-gated ion-channel transmembrane domain
Domain	IPR006202	Neurotransmitter-gated ion-channel ligand-binding domain
Domain	IPR028939	Pyrroline-5-carboxylate reductase, catalytic, N-terminal
Domain	IPR029036	Pyrroline-5-carboxylate reductase, dimerisation domain
Family	IPR000304	Pyrroline-5-carboxylate reductase-like
Family	IPR006201	Neurotransmitter-gated ion-channel
Homologous_superfamily	IPR008927	6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
Homologous_superfamily	IPR036291	NAD(P)-binding domain superfamily
Homologous_superfamily	IPR036719	Neurotransmitter-gated ion-channel transmembrane domain superfamily
Homologous_superfamily	IPR036734	Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Homologous_superfamily	IPR038050	Neuronal acetylcholine receptor

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:Q6P971	InterPro	320
UniProtKB:A0A8M6YZB1	InterPro	412
UniProtKB:A0A8M9PZ08	InterPro	412
UniProtKB:A0AC58II33	InterPro	631
UniProtKB:A0AC58II47	InterPro	350
UniProtKB:A0AC58II63	InterPro	311
UniProtKB:A0AC58II83	InterPro	356
UniProtKB:A0AC58II91	InterPro	357
UniProtKB:A0AC58IIA0	InterPro	317
UniProtKB:A0AC58IIA6	InterPro	468

Transcripts

Genome Browsers

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pycr1a-201 (1) Ensembl	Ensembl	2,551 nt	Select Tool ZFIN BLAST
mRNA	pycr1a-203 (1) Ensembl	Ensembl	2,496 nt	Select Tool ZFIN BLAST
ncRNA	pycr1a-002 (1) Ensembl	Ensembl	346 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Genome Browsers

NCBI Map Viewer

ZFIN

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations