Htra1 MGI Mouse Gene Detail - MGI:1929076

Symbol

Htra1
Name

HtrA serine peptidase 1
Synonyms

HtrA1, insulin-like growth factor binding protein 5 protease, L56, Prss11, RSPP11

Feature Type

protein coding gene
IDs

MGI:1929076
NCBI Gene: 56213
Gene Overview

MyGene.info: HTRA1
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr7:130936203-130985658 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 73.20 cM
Mapping Data

3 experiments

SNPs within 2kb

347 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1929076	protein coding gene	Chr7:130936111-130985660 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0033096	protein coding gene	Chr7:135497291-135554124 (+)
A/J	MGP_AJ_G0033078	protein coding gene	Chr7:131788799-131838251 (+)
AKR/J	MGP_AKRJ_G0033010	protein coding gene	Chr7:135292794-135343850 (+)
BALB/cJ	MGP_BALBcJ_G0033079	protein coding gene	Chr7:131487611-131537150 (+)
C3H/HeJ	MGP_C3HHeJ_G0032793	protein coding gene	Chr7:135159386-135209808 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033589	protein coding gene	Chr7:140702596-140755365 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030561	protein coding gene	Chr7:132946278-132996262 (+)
CAST/EiJ	MGP_CASTEiJ_G0032123	protein coding gene	Chr7:126981491-127033160 (+)
CBA/J	MGP_CBAJ_G0032766	protein coding gene	Chr7:145520423-145572837 (+)
DBA/2J	MGP_DBA2J_G0032918	protein coding gene	Chr7:129791444-129841656 (+)
FVB/NJ	MGP_FVBNJ_G0032871	protein coding gene	Chr7:129644212-129694309 (+)
LP/J	MGP_LPJ_G0033012	protein coding gene	Chr7:136971919-137024502 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032903	protein coding gene	Chr7:146455490-146508192 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033610	protein coding gene	Chr7:134277187-134329612 (+)
PWK/PhJ	MGP_PWKPhJ_G0031829	protein coding gene	Chr7:122861080-122912109 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031675	protein coding gene	Chr7:121045693-121096866 (+)
WSB/EiJ	MGP_WSBEiJ_G0032234	protein coding gene	Chr7:135221814-135274404 (+)

Human Ortholog

HTRA1, HtrA serine peptidase 1

Vertebrate Orthologs

8

Human Ortholog

HTRA1, HtrA serine peptidase 1
Orthology source: HomoloGene, HGNC
Synonyms

ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11
Links

HGNC:9476

NCBI Gene ID: 5654

neXtProt AC: NX_Q92743

UniProt: Q92743
Chr Location

10q26.13; chr10:122461525-122514908 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 31114
1 human;1 mouse;1 rat;1 cattle;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: HTRA1
Protein SuperFamily

serine protease, HTRA type
Gene Tree

Htra1

Diseases

3 with human HTRA1 associations

				Human Disease	Mouse Models
				age related macular degeneration 7 IDs age related macular degeneration 7 DOID:0110019 OMIM:610149
				CADASIL IDs CADASIL DOID:13945 MESH:D046589 NCI:C84606 OMIM:600142 OMIM:PS125310 ORDO:136 UMLS_CUI:C0751587
				CADASIL 2 IDs CADASIL 2 DOID:0111036 ICD10CM:F01.1 OMIM:616779

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

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
11 phenotypes from multigenic genotypes
7 images
19 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

33
Gene trapped

26
Targeted

6
Transgenic

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain.

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All GO Annotations

23
GO References

9

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	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

270
Tissues

98
cDNA Data

100
Literature Summary

19

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase htra1

ZFIN htra1a

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Htra1 interacts with 92 markers (Mir7-2, Mir7b, Mir9-1, ...) View All

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All Sequences

41
RefSeq

2
UniProt

1
CCDS

CCDS21908.1
UniGene

30156

Ensembl

ENSMUSG00000006205 (Evidence)
NCBI Gene

56213

			Length	Strain/Species	Flank
genomic	56213	NCBI Gene Model \| MGI Sequence Detail	49456	C57BL/6J	± kb
transcript	NM_019564	RefSeq \| MGI Sequence Detail	2051	C57BL/6
polypeptide	Q9R118	UniProt \| EBI \| MGI Sequence Detail	480	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008838 serine protease HTRA1

(term hierarchy)
EC

3.4.21.-
InterPro Domains

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR000867 Insulin-like growth factor-binding protein, IGFBP

IPR002350 Kazal domain

IPR036058 Kazal domain superfamily

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR001940 Peptidase S1C

IPR009003 Peptidase S1, PA clan

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All nucleic 104

cDNA 100

Primer pair 2

Other 2

Microarray probesets 4

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MGI:2141952

Summaries

All 70

Developmental Gene Expression 19

Gene Ontology 9

Phenotypes 19
Earliest

J:64479 Gray CW, et al., Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response. Eur J Biochem. 2000 Sep;267(18):5699-710
Latest

J:264429 Ikawati M, et al., Loss of HtrA1 serine protease induces synthetic modulation of aortic vascular smooth muscle cells. PLoS One. 2018;13(5):e0196628

TSS for Htra1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69536	Chr7:130936160-130936171 (+)	-37 bp
Tssr69537	Chr7:130936172-130936254 (+)	10 bp
Tssr69538	Chr7:130936257-130936268 (+)	60 bp
Tssr69539	Chr7:130943446-130943464 (+)	7,252 bp
Tssr69540	Chr7:130943474-130943493 (+)	7,281 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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