Pex5 MGI Mouse Gene Detail - MGI:1098808 - peroxisomal biogenesis factor 5

Symbol

Pex5
Name

peroxisomal biogenesis factor 5
Synonyms

ESTM1, peroxisome biogenesis factor 5, PTS1R, Pxr1

Feature Type

protein coding gene
IDs

MGI:1098808
NCBI Gene: 19305
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:124373775-124392026 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 59.15 cM
Mapping Data

3 experiments

SNPs within 2kb

434 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098808	protein coding gene	Chr6:124373774-124392878 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0031256	protein coding gene	Chr6:127651876-127670109 (-)
A/J	MGP_AJ_G0031223	protein coding gene	Chr6:122787761-122806008 (-)
AKR/J	MGP_AKRJ_G0031151	protein coding gene	Chr6:126170019-126188265 (-)
BALB/cJ	MGP_BALBcJ_G0031231	protein coding gene	Chr6:122423264-122441910 (-)
C3H/HeJ	MGP_C3HHeJ_G0030954	protein coding gene	Chr6:126238426-126256650 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031689	protein coding gene	Chr6:130963924-130983601 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028841	protein coding gene	Chr6:120093444-120095125 (-)
CAST/EiJ	MGP_CASTEiJ_G0030337	protein coding gene	Chr6:126484360-126504116 (-)
CBA/J	MGP_CBAJ_G0030913	protein coding gene	Chr6:136122578-136143490 (-)
DBA/2J	MGP_DBA2J_G0031069	protein coding gene	Chr6:121722416-121743908 (-)
FVB/NJ	MGP_FVBNJ_G0031019	protein coding gene	Chr6:120657667-120678114 (-)
LP/J	MGP_LPJ_G0031150	protein coding gene	Chr6:127859236-127879234 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031057	protein coding gene	Chr6:140099860-140119388 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031720	protein coding gene	Chr6:126075001-126095307 (-)
PWK/PhJ	MGP_PWKPhJ_G0030051	protein coding gene	Chr6:119972923-119991823 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0029880	protein coding gene	Chr6:124211497-124229835 (-)
WSB/EiJ	MGP_WSBEiJ_G0030419	protein coding gene	Chr6:126425062-126444257 (-)

Human Ortholog

PEX5, peroxisomal biogenesis factor 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PEX5, peroxisomal biogenesis factor 5
Synonyms

PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
Links

HGNC:9719

NCBI Gene ID: 5830

neXtProt AC: NX_P50542

UniProt: P50542
Chr Location

12p13.31; chr12:7188653-7218574 (+) GRCh38

MGI Vertebrate Homology

Pex5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PEX5
Gene Tree

Pex5

Diseases

3 with human PEX5 associations

				Human Disease	Mouse Models
				peroxisome biogenesis disorder 2A IDs peroxisome biogenesis disorder 2A DOID:0080477 OMIM:214110
				peroxisome biogenesis disorder 2B IDs peroxisome biogenesis disorder 2B DOID:0080622 OMIM:202370
				rhizomelic chondrodysplasia punctata type 5 IDs rhizomelic chondrodysplasia punctata type 5 DOID:0110854 OMIM:616716 ORDO:468717

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

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Phenotype Summary

50 phenotypes from 2 alleles in 2 genetic backgrounds
35 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

5
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth.

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All GO Annotations

73
GO References

18

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

781
Tissues

38
cDNA Data

112
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pex5

ZFIN pex5

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All Sequences

66
RefSeq

18
UniProt

2
CCDS

CCDS20517.1, CCDS20518.1

Ensembl

ENSMUSG00000005069 (Evidence)
NCBI Gene

19305

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005069	Ensembl Gene Model \| MGI Sequence Detail	18252	C57BL/6J	± kb
transcript	ENSMUST00000035861	Ensembl \| MGI Sequence Detail	3139	Not Applicable
polypeptide	ENSMUSP00000049132	Ensembl \| MGI Sequence Detail	639	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000012565 peroxisomal targeting signal 1 receptor

(term hierarchy)
InterPro Domains

IPR024111 PEX5/PEX5L

IPR011990 Tetratricopeptide-like helical domain superfamily

IPR019734 Tetratricopeptide repeat
GlyGen

O09012 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 113

Genomic 1

cDNA 112

Microarray probesets 4

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MGD-MRK-28134, MGI:104840, MGI:2141665

Summaries

All 71

Developmental Gene Expression 4

Gene Ontology 18

Phenotypes 35
Earliest

J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
Latest

J:358808 Choi J, et al., Etomoxir repurposed as a promiscuous fatty acid mimetic chemoproteomic probe. iScience. 2024 Sep 20;27(9):110642

TSS for Pex5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr63080	Chr6:124391996-124392037 (-)	9 bp
Tssr63079	Chr6:124391976-124391985 (-)	45 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 12/10/2024 MGI 6.24