Prss48 MGI Mouse Gene Detail - MGI:2685865

Symbol

Prss48
Name

serine protease 48
Synonyms

Esspl, Gm1019

Feature Type

protein coding gene
IDs

MGI:2685865
NCBI Gene: 368202
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr3:85901117-85909798 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 37.83 cM
Mapping Data

1 experiment

SNPs within 2kb

108 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685865	protein coding gene	Chr3:85900919-85909838 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027352	protein coding gene	Chr3:86023106-86031787 (-)
A/J	MGP_AJ_G0027316	protein coding gene	Chr3:83114447-83123151 (-)
AKR/J	MGP_AKRJ_G0027282	protein coding gene	Chr3:85090661-85099372 (-)
BALB/cJ	MGP_BALBcJ_G0027325	protein coding gene	Chr3:83199861-83208558 (-)
C3H/HeJ	MGP_C3HHeJ_G0027069	protein coding gene	Chr3:85412178-85421912 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027771	protein coding gene	Chr3:89206547-89215228 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025124	protein coding gene	Chr3:78762562-78771023 (-)
CAST/EiJ	MGP_CASTEiJ_G0026516	protein coding gene	Chr3:85609919-85620663 (-)
CBA/J	MGP_CBAJ_G0027044	protein coding gene	Chr3:92191688-92200395 (-)
DBA/2J	MGP_DBA2J_G0027180	protein coding gene	Chr3:82610958-82619713 (-)
FVB/NJ	MGP_FVBNJ_G0027148	protein coding gene	Chr3:80914554-80923235 (-)
LP/J	MGP_LPJ_G0027288	protein coding gene	Chr3:86963436-86972117 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027167	protein coding gene	Chr3:98465383-98474064 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027829	protein coding gene	Chr3:84890917-84899628 (-)
PWK/PhJ	MGP_PWKPhJ_G0026250	protein coding gene	Chr3:82419821-82428593 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026066	protein coding gene	Chr3:84052235-84060964 (-)
WSB/EiJ	MGP_WSBEiJ_G0026594	protein coding gene	Chr3:85264125-85273918 (-)

Human Ortholog

PRSS48, serine protease 48

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PRSS48, serine protease 48
Synonyms

ESSPL
Links

HGNC:24635

NCBI Gene ID: 345062

neXtProt AC: NX_Q7RTY5

UniProt: Q7RTY5
Chr Location

4q31.3; chr4:151277161-151291862 (+) GRCh38

MGI Vertebrate Homology

Prss48 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PRSS48
Gene Tree

Prss48

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References

1 with disease annotations

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
10 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

8
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Prss48
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

3
GO References

1

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	non-membrane-bounded 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

706
cDNA Data

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

30
RefSeq

4
UniProt

1
CCDS

CCDS17444.1

Ensembl

ENSMUSG00000049013 (Evidence)
NCBI Gene

368202

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049013	Ensembl Gene Model \| MGI Sequence Detail	8682	C57BL/6J	± kb
transcript	ENSMUST00000061343	Ensembl \| MGI Sequence Detail	949	Not Applicable
polypeptide	ENSMUSP00000051199	Ensembl \| MGI Sequence Detail	312	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007211 serine protease 48

(term hierarchy)
EC

3.4.21.-
InterPro Domains

IPR001314 Peptidase S1A, chymotrypsin family

IPR009003 Peptidase S1, PA clan

IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold

IPR001254 Serine proteases, trypsin domain

IPR018114 Serine proteases, trypsin family, histidine active site

IPR033116 Serine proteases, trypsin family, serine active site

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All nucleic 4

cDNA 4

Microarray probesets 1

Summaries

All 26

Diseases 1

Gene Ontology 1

Phenotypes 10
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426

TSS for Prss48:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr33891	Chr3:85909822-85909842 (-)	-34 bp
Tssr33890	Chr3:85909802-85909814 (-)	-10 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 04/16/2024 MGI 6.23