Hpn MGI Mouse Gene Detail - MGI:1196620

Symbol

Hpn
Name

hepsin
Synonyms

Hlb320

Feature Type

protein coding gene
IDs

MGI:1196620
NCBI Gene: 15451
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:30798150-30814715 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 19.30 cM
Mapping Data

4 experiments

SNPs within 2kb

592 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1196620	protein coding gene	Chr7:30798150-30814751 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032061	protein coding gene	Chr7:30160778-30178869 (-)
A/J	MGP_AJ_G0032038	protein coding gene	Chr7:29348095-29365302 (-)
AKR/J	MGP_AKRJ_G0031971	protein coding gene	Chr7:30084456-30103423 (-)
BALB/cJ	MGP_BALBcJ_G0032045	protein coding gene	Chr7:29523479-29540051 (-)
C3H/HeJ	MGP_C3HHeJ_G0031762	protein coding gene	Chr7:30547765-30566694 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0032511	protein coding gene	Chr7:31166842-31185556 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029561	protein coding gene	Chr7:30301434-30318456 (-)
CAST/EiJ	MGP_CASTEiJ_G0031098	protein coding gene	Chr7:23804659-23821105 (-)
CBA/J	MGP_CBAJ_G0031730	protein coding gene	Chr7:32627172-32643420 (-)
DBA/2J	MGP_DBA2J_G0031882	protein coding gene	Chr7:29062494-29079326 (-)
FVB/NJ	MGP_FVBNJ_G0031838	protein coding gene	Chr7:29180956-29197695 (-)
LP/J	MGP_LPJ_G0031963	protein coding gene	Chr7:30499341-30517781 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031875	protein coding gene	Chr7:31851117-31867465 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032537	protein coding gene	Chr7:29596690-29614081 (-)
PWK/PhJ	MGP_PWKPhJ_G0030820	protein coding gene	Chr7:24101750-24120861 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0030657	protein coding gene	Chr7:20589292-20605908 (-)
WSB/EiJ	MGP_WSBEiJ_G0031208	protein coding gene	Chr7:30004177-30021419 (-)

Human Ortholog

HPN, hepsin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HPN, hepsin
Synonyms

TMPRSS1
Links

HGNC:5155

NCBI Gene ID: 3249

neXtProt AC: NX_P05981

UniProt: P05981
Chr Location

19q13.11; chr19:35040506-35066573 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: HPN
Gene Tree

Hpn

Diseases

1 with human HPN associations

				Human Disease	Mouse Models
				intellectual disability IDs intellectual disability DOID:1059 NCI:C84392 UMLS_CUI:C0025362

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

less

Phenotype Summary

19 phenotypes from 3 alleles in 4 genetic backgrounds
5 phenotypes from multigenic genotypes
15 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

7
Chemically induced (ENU)

1
Endonuclease-mediated

2
Targeted

3
Transgenic

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons.

less

All GO Annotations

54
GO References

11

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.

less

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

886
Tissues

77
cDNA Data

77
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hpn

less

All Sequences

65
RefSeq

6
UniProt

8
CCDS

CCDS52187.1, CCDS52188.1, CCDS71936.1

Ensembl

ENSMUSG00000001249 (Evidence)
NCBI Gene

15451

			Length	Strain/Species	Flank
genomic	ENSMUSG00000001249	Ensembl Gene Model \| MGI Sequence Detail	16566	C57BL/6J	± kb
transcript	ENSMUST00000039435	Ensembl \| MGI Sequence Detail	1743	Not Applicable
polypeptide	ENSMUSP00000038149	Ensembl \| MGI Sequence Detail	445	Not Applicable

less

UniProt

8 Sequences
Protein Ontology

PR:000008733 serine protease hepsin

(term hierarchy)
EC

3.4.21.106
InterPro Domains

IPR015352 Hepsin, SRCR domain

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

IPR017448 SRCR-like domain

IPR036772 SRCR-like domain superfamily
GlyGen

O35453 1 site

less

All nucleic 89

cDNA 78

Primer pair 8

Other 3

Microarray probesets 4

less

MGI:2141811, MGI:2142029, MGI:3575147

Summaries

All 53

Developmental Gene Expression 13

Gene Ontology 11

Phenotypes 15
Earliest

J:180502 Torres-Rosado A, et al., Hepsin, a putative cell-surface serine protease, is required for mammalian cell growth. Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7181-5
Latest

J:334514 Chakraborty P, et al., Bone morphogenetic protein 2- and estradiol-17beta-induced changes in ovarian transcriptome during primordial follicle formation. Biol Reprod. 2022 Sep 12;107(3):800-812

TSS for Hpn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr71934	Chr7:30816317-30816329 (-)	-1,608 bp
Tssr71933	Chr7:30814652-30814733 (-)	22 bp
Tssr71932	Chr7:30814125-30814141 (-)	582 bp
Tssr71931	Chr7:30810573-30810583 (-)	4,137 bp
Tssr71930	Chr7:30810430-30810441 (-)	4,279 bp
Tssr71929	Chr7:30810295-30810330 (-)	4,402 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