Pycr1 MGI Mouse Gene Detail - MGI:2384795 - pyrroline-5-carboxylate reductase 1

Symbol

Pycr1
Name

pyrroline-5-carboxylate reductase 1
Synonyms

MGC:11688

Feature Type

protein coding gene
IDs

MGI:2384795
NCBI Gene: 209027
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:120527591-120534602 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 84.37 cM
Mapping Data

1 experiment

SNPs within 2kb

253 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384795	protein coding gene	Chr11:120526538-120534602 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019518	protein coding gene	Chr11:125115727-125124008 (-)
A/J	MGP_AJ_G0019486	protein coding gene	Chr11:119545781-119553715 (-)
AKR/J	MGP_AKRJ_G0019456	protein coding gene	Chr11:123158466-123167951 (-)
BALB/cJ	MGP_BALBcJ_G0019461	protein coding gene	Chr11:119903078-119912736 (-)
C3H/HeJ	MGP_C3HHeJ_G0019267	protein coding gene	Chr11:123477730-123485633 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019909	protein coding gene	Chr11:128899534-128907469 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017535	protein coding gene	Chr11:116534838-116542604 (-)
CAST/EiJ	MGP_CASTEiJ_G0018821	protein coding gene	Chr11:124980914-124990952 (-)
CBA/J	MGP_CBAJ_G0019238	protein coding gene	Chr11:133935195-133945388 (-)
DBA/2J	MGP_DBA2J_G0019350	protein coding gene	Chr11:118914088-118922253 (-)
FVB/NJ	MGP_FVBNJ_G0019342	protein coding gene	Chr11:118626802-118635257 (-)
LP/J	MGP_LPJ_G0019422	protein coding gene	Chr11:125417654-125425433 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019375	protein coding gene	Chr11:132776640-132784476 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019949	protein coding gene	Chr11:123828991-123838226 (-)
PWK/PhJ	MGP_PWKPhJ_G0018587	protein coding gene	Chr11:120354504-120362749 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018379	protein coding gene	Chr11:123596021-123604451 (-)
WSB/EiJ	MGP_WSBEiJ_G0018873	protein coding gene	Chr11:123818947-123828650 (-)

Human Ortholog

PYCR1, pyrroline-5-carboxylate reductase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PYCR1, pyrroline-5-carboxylate reductase 1
Synonyms

ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
Links

HGNC:9721

NCBI Gene ID: 5831

neXtProt AC: NX_P32322

UniProt: P32322
Chr Location

17q25.3; chr17:81932384-81942412 (-) GRCh38

MGI Vertebrate Homology

Pycr1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PYCR1
Protein SuperFamily

Pyrrol-5-carb_rd
Gene Tree

Pycr1

Diseases

2 with human PYCR1 associations

				Human Disease	Mouse Models
				autosomal recessive cutis laxa type IIB IDs autosomal recessive cutis laxa type IIB DOID:0070137 ICD10CM:Q82.8 OMIM:612940 ORDO:357064
				autosomal recessive cutis laxa type IIIB IDs autosomal recessive cutis laxa type IIIB DOID:0070138 ICD10CM:Q82.8 OMIM:614438

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotypes from 3 alleles in 3 genetic backgrounds
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Endonuclease-mediated

4
Gene trapped

1
Targeted

6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit male-specific impaired glucose tolerance and decreased circulating triglyceride levels. Mice homozygous for a second null allele display decreased susceptibility to myocardial ischemic injury.

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All GO Annotations

18
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

931
Tissues

118
cDNA Data

35
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pycr1

ZFIN pycr1a

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All Sequences

64
RefSeq

14
UniProt

5
CCDS

CCDS25749.1

Ensembl

ENSMUSG00000025140 (Evidence)
NCBI Gene

209027

			Length	Strain/Species	Flank
genomic	209027	NCBI Gene Model \| MGI Sequence Detail	7012	C57BL/6J	± kb
transcript	NM_001379085	RefSeq \| MGI Sequence Detail	2378	C57BL/6
polypeptide	Q922W5	UniProt \| EBI \| MGI Sequence Detail	309	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000013515 pyrroline-5-carboxylate reductase 1, mitochondrial

(term hierarchy)
EC

1.5.1.2
InterPro Domains

IPR008927 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily

IPR036291 NAD(P)-binding domain superfamily

IPR000304 Pyrroline-5-carboxylate reductase

IPR028939 Pyrroline-5-carboxylate reductase, catalytic, N-terminal

IPR029036 Pyrroline-5-carboxylate reductase, dimerisation domain

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All nucleic 36

cDNA 35

Primer pair 1

Microarray probesets 5

Summaries

All 45

Developmental Gene Expression 5

Gene Ontology 7

Phenotypes 16
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pycr1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112362	Chr11:120534523-120534588 (-)	46 bp
Tssr112361	Chr11:120534115-120534128 (-)	480 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24