Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5654
Gene name	HtrA serine peptidase 1
Gene symbol	HTRA1
Synonyms (NCBI Gene)	ARMD7CADASIL2CARASILHtrAL56ORF480PRSS11
Chromosome	10
Chromosome location	10q26.13
Summary	This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113993969	G>A	Pathogenic	Missense variant, coding sequence variant
rs113993970	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs113993971	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs149294320	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373287445	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776445	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776447	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776449	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776873	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs864622782	C>A	Pathogenic	Coding sequence variant, missense variant
rs864622783	G>A	Pathogenic	Splice acceptor variant
rs1267457680	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554952277	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554952291	C>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021015	hsa-miR-155-5p	Proteomics	18668040
MIRT030211	hsa-miR-26b-5p	Microarray	19088304
MIRT032028	hsa-miR-16-5p	Proteomics	18668040
MIRT646007	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646006	hsa-miR-635	HITS-CLIP	23824327
MIRT646005	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT646007	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646006	hsa-miR-635	HITS-CLIP	23824327
MIRT646005	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT1057351	hsa-miR-217	CLIP-seq
MIRT1057352	hsa-miR-376c	CLIP-seq
MIRT2245385	hsa-miR-1267	CLIP-seq
MIRT2245386	hsa-miR-3187-3p	CLIP-seq
MIRT2245387	hsa-miR-4435	CLIP-seq
MIRT2245388	hsa-miR-4701-5p	CLIP-seq
MIRT2245389	hsa-miR-548s	CLIP-seq
MIRT2245390	hsa-miR-588	CLIP-seq
MIRT2548620	hsa-miR-105	CLIP-seq
MIRT2548621	hsa-miR-149	CLIP-seq
MIRT2548622	hsa-miR-31	CLIP-seq
MIRT2548623	hsa-miR-3128	CLIP-seq
MIRT2548624	hsa-miR-3136-3p	CLIP-seq
MIRT2548625	hsa-miR-3150b-3p	CLIP-seq
MIRT2548626	hsa-miR-3173-3p	CLIP-seq
MIRT2548627	hsa-miR-320e	CLIP-seq
MIRT2548628	hsa-miR-451b	CLIP-seq
MIRT2548629	hsa-miR-4728-3p	CLIP-seq
MIRT2548630	hsa-miR-4784	CLIP-seq
MIRT2548631	hsa-miR-4793-5p	CLIP-seq
MIRT2548632	hsa-miR-628-5p	CLIP-seq
MIRT2548633	hsa-miR-765	CLIP-seq
MIRT2548634	hsa-miR-935	CLIP-seq
MIRT2548635	hsa-miR-943	CLIP-seq
MIRT2548620	hsa-miR-105	CLIP-seq
MIRT2245385	hsa-miR-1267	CLIP-seq
MIRT2682494	hsa-miR-1272	CLIP-seq
MIRT2682495	hsa-miR-2052	CLIP-seq
MIRT2682496	hsa-miR-2276	CLIP-seq
MIRT2548622	hsa-miR-31	CLIP-seq
MIRT2548623	hsa-miR-3128	CLIP-seq
MIRT2548624	hsa-miR-3136-3p	CLIP-seq
MIRT2548625	hsa-miR-3150b-3p	CLIP-seq
MIRT2682497	hsa-miR-3152-5p	CLIP-seq
MIRT2682498	hsa-miR-3154	CLIP-seq
MIRT2548626	hsa-miR-3173-3p	CLIP-seq
MIRT2245386	hsa-miR-3187-3p	CLIP-seq
MIRT2548627	hsa-miR-320e	CLIP-seq
MIRT2682499	hsa-miR-323-3p	CLIP-seq
MIRT2682500	hsa-miR-4320	CLIP-seq
MIRT2682501	hsa-miR-4426	CLIP-seq
MIRT2245387	hsa-miR-4435	CLIP-seq
MIRT2682502	hsa-miR-4436b-3p	CLIP-seq
MIRT2548628	hsa-miR-451b	CLIP-seq
MIRT2682503	hsa-miR-4647	CLIP-seq
MIRT2682504	hsa-miR-4652-3p	CLIP-seq
MIRT2682505	hsa-miR-4662b	CLIP-seq
MIRT2245388	hsa-miR-4701-5p	CLIP-seq
MIRT2682506	hsa-miR-4727-5p	CLIP-seq
MIRT2548629	hsa-miR-4728-3p	CLIP-seq
MIRT2682507	hsa-miR-4763-5p	CLIP-seq
MIRT2682508	hsa-miR-4772-3p	CLIP-seq
MIRT2682509	hsa-miR-4774-3p	CLIP-seq
MIRT2682510	hsa-miR-4778-5p	CLIP-seq
MIRT2548630	hsa-miR-4784	CLIP-seq
MIRT2245389	hsa-miR-548s	CLIP-seq
MIRT2245390	hsa-miR-588	CLIP-seq
MIRT2548632	hsa-miR-628-5p	CLIP-seq
MIRT2548633	hsa-miR-765	CLIP-seq
MIRT2548634	hsa-miR-935	CLIP-seq
MIRT2548635	hsa-miR-943	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001890	Process	Placenta development	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	9852107
GO:0005515	Function	Protein binding	IPI	25002585, 26436840, 28726057, 29572155, 35063084
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	9852107
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	ISS
GO:0012501	Process	Programmed cell death	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019838	Function	Growth factor binding	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380, 28327460
GO:0031012	Component	Extracellular matrix	HDA	23979707, 27068509
GO:0031012	Component	Extracellular matrix	IBA
GO:0042802	Function	Identical protein binding	IPI	21297635, 22578544, 28642151
GO:0043065	Process	Positive regulation of apoptotic process	IBA
GO:0060718	Process	Chorionic trophoblast cell differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0140677	Function	Molecular function activator activity	EXP	21297635

MIM	HGNC	e!Ensembl
602194	9476	ENSG00000166033

Q92743

Protein name

Serine protease HTRA1 (EC 3.4.21.-) (High-temperature requirement A serine peptidase 1) (L56) (Serine protease 11)

Protein function

Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans,

PDB

2JOA , 2YTW , 3NUM , 3NWU , 3NZI , 3TJN , 3TJO , 3TJQ , 6Z0E , 6Z0X , 6Z0Y , 7SJN , 7SJO , 7SJP , 8SDM , 8SDP , 8SE7 , 8SE8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00219	IGFBP	37 → 89	Insulin-like growth factor binding protein	Domain
PF07648	Kazal_2	108 → 155	Kazal-type serine protease inhibitor domain	Domain
PF13365	Trypsin_2	204 → 342		Domain
PF17820	PDZ_6	413 → 464	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with strongest expression in placenta (at protein level). Secreted by synovial fibroblasts. Up-regulated in osteoarthritis and rheumatoid arthritis synovial fluids and cartilage as compared with non-arthritic (at prot

Sequence

MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCEPARCPPQPEHCEGGRARD
ACGCCEVCGAPEGAACGLQEGPCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCG
SDANTYANLCQLRAASRRSERLHRPPVIVLQRGACGQGQEDPNSLRHKYNFIADVVEKIA
PAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNKHRVKVELKNGATYEA
KIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTT
QRGGKELGLRNSDMDYIQTDAIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKI
KKFLTESHDRQAKGKAITKKKYIGIRMMSLTSSKAKELKDRHRDFPDVISGAYIIEVIPD
TPAEAGGLKENDVIISINGQSVVSANDVSDVIKRESTLNMVVRRGNEDIMITVIPEEIDP

Sequence length

480

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix

158

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Age related macular degeneration 7	Likely pathogenic; Pathogenic	rs1432594571	RCV004066843
CARASIL syndrome	Pathogenic; Likely pathogenic	rs372750076, rs2133449474, rs587776445, rs587776448, rs864622781, rs113993971, rs113993970, rs113993969, rs113993968, rs768243150, rs587776873, rs1554950703, rs2097481554	RCV001802756 RCV001806399 RCV000144147 RCV000157766 RCV005412426 RCV000007916 RCV000007917 RCV000007918 RCV000007919 RCV003989870 RCV000023168 RCV000678044 RCV001293044
Cerebral arterial disease	Likely pathogenic	rs864622781	RCV005622179
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic; Pathogenic	rs748074236, rs766433250, rs2097494390, rs2133449474, rs1432594571, rs2497622964, rs864622781, rs781563777, rs864622782, rs864622783, rs113993970, rs113993968, rs1554948318, rs1554950655, rs1273355332 View all (3 more)	RCV001542097 RCV004785272 RCV001785356 RCV001810331 RCV002251114 RCV002290310 RCV005412426 RCV000206925 RCV000206984 RCV000206899 RCV000206946 RCV001250521 RCV005414319 RCV000627023 RCV000627024 RCV000627025 RCV000627027 RCV000627028 RCV000627029
Cognitive impairment	Likely pathogenic; Pathogenic	rs113993970	RCV001003543
HTRA1-related autosomal dominant cerebral small vessel disease	Pathogenic	rs2097481521	RCV003324043
HTRA1-related cerebral small vessel disease	Likely pathogenic; Pathogenic	rs766433250, rs113993971, rs768243150	RCV004587176 RCV000779017 RCV004767511
HTRA1-related disorder	Likely pathogenic; Pathogenic	rs768243150	RCV003959258
Personality changes	Likely pathogenic; Pathogenic	rs113993970	RCV001003543
Seizure	Likely pathogenic; Pathogenic	rs113993970	RCV001003543
Small vessel cerebrovascular disease	Likely pathogenic; Pathogenic	rs113993970	RCV001003928
Vascular dementia	Likely pathogenic; Pathogenic	rs766433250	RCV002051728

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Uncertain significance	rs769157908	RCV003994335
Lung cancer	Benign	rs114877122	RCV005891766
Macular degeneration	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs17624021, rs541204010, rs757237545, rs202167109, rs2672586, rs28665753, rs550039968, rs144118239, rs2272599, rs886046773, rs555692792, rs541533723, rs114877122, rs149294320, rs11538140 View all (18 more)	RCV000291036 RCV000379814 RCV000285342 RCV000346013 RCV000391119 RCV000299709 RCV000326266 RCV000352185 RCV000298544 RCV000391126 RCV000359140 RCV000354631 RCV000380837 RCV000400395 RCV000292204 RCV000353453 RCV001104660 RCV001108056 RCV001102842 RCV001102736 RCV001104661 RCV001102734 RCV001102735 RCV001104658 RCV001104659 RCV001105822 RCV001105823 RCV001105825 RCV001105826 RCV001108055 RCV001102841 RCV001102843 RCV001105824
See cases	Uncertain significance	rs1422866036	RCV002252487

Show/Hide Text Mining Associations (131)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	23592924
Ablepharon macrostomia syndrome	Associate	31970928
Aggressive Periodontitis	Associate	24979214
AIDS Arteritis Central Nervous System	Associate	23983263, 31719132
Alopecia	Associate	33109952
Alzheimer Disease	Associate	19301262, 26035313, 27379525, 31197037, 34551193
Amyloidosis	Associate	31197037
Arthritis	Associate	16377621
Arthritis Psoriatic	Associate	16377621
Brain Diseases	Associate	35074002
Breast Neoplasms	Associate	21708937
Breast Neoplasms	Inhibit	22761798, 23580433
CADASIL	Associate	29561953, 32188464, 34951056, 35074002, 36047879
Carcinogenesis	Associate	32486357
Carcinoma Intraductal Noninfiltrating	Inhibit	22761798
Cardiomyopathy Dilated	Associate	19332114
Cardiovascular Diseases	Associate	21682878
Carotid Artery Injuries	Associate	33746601
Cartilage Diseases	Associate	16377621, 39293776
Cat Scratch Disease	Associate	12354855
Cataract	Associate	34946854
Cerebral Amyloid Angiopathy	Associate	35074002
Cerebral Arterial Diseases	Associate	34951056
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Associate	19387015, 23963851, 24535794, 28402226, 33109952, 34510819, 34946904, 34951056
Cerebral Infarction	Associate	23983263, 30859180, 31719132, 33746601, 36300346
Cerebral Small Vessel Diseases	Associate	19387015, 28402226, 28782182, 29561953, 30859180, 31719132, 32239807, 33109952, 33268848, 34510819, 34626176, 34946904, 35074002, 35307828, 36047879, 36261288, 36625892 View all (2 more)
Chlamydial Pneumonia	Associate	36299763
Choroidal Neovascularization	Associate	19796758, 21122828, 21402993, 22699975, 26171855
Choroiditis	Associate	32328755
Chromosome Aberrations	Associate	32239807
Cognition Disorders	Associate	33268848, 35307828
Colorectal Neoplasms	Associate	32218415, 32486357
Complement Factor H Deficiency	Associate	24084496
Corneal Dystrophies Hereditary	Associate	31197037
Corneal Neovascularization	Associate	18682806, 22247473, 33369641
COVID 19	Associate	40149929
Death	Inhibit	30131069
Dementia	Associate	34946904, 36300346
Diabetes Mellitus	Associate	27411924
Diabetic Nephropathies	Associate	39378104, 40312440
Diabetic Retinopathy	Associate	21067572
Diffuse Neurofibrillary Tangles with Calcification	Stimulate	22535953
Drug Related Side Effects and Adverse Reactions	Associate	16767218, 21387310
Dystonic Disorders	Associate	34510819
Emphysema	Associate	33535173
Esophageal Neoplasms	Associate	22935172
Eye Diseases	Associate	29730901
Fetal Growth Retardation	Stimulate	40285515
Fibrocartilaginous embolism	Associate	28432852
Gallbladder Neoplasms	Associate	24657443
Genetic Diseases Inborn	Associate	28402226, 34510819
Geographic Atrophy	Associate	18682806, 18718667, 20381870, 21122828, 22247473, 22699975, 24084496, 35240203, 36064790
Gingivitis	Associate	24979214
Glioblastoma	Associate	35327982
Glucose Intolerance	Associate	31517621
Glutaric Acidemia I	Associate	18206206
Glycogen Storage Disease Type II	Associate	18206206, 30795802, 32328755, 32979492
Heart Failure	Associate	32620106, 36656640
Helicobacter Infections	Associate	37490912
Hyperlipidemias	Associate	32191267
Hypertension	Associate	21682878, 34626176
Hypoxia	Associate	37949031
IgA Vasculitis	Stimulate	16377621
Infections	Associate	37183214
Inflammation	Associate	21203342, 28132833, 32814022, 34326497, 36903482, 37490912
Inflammation	Inhibit	36822266
Insulin Resistance	Associate	31517621
Intervertebral Disc Degeneration	Associate	22556410
Keloid	Stimulate	29695130
Leukoencephalopathies	Associate	23983263, 28782182, 31719132, 34510819, 34626176, 36047879, 36380532
Lung Neoplasms	Associate	17094466
Lymphatic Metastasis	Associate	17094466
Lymphatic Metastasis	Inhibit	22935172
Lymphoma B Cell Marginal Zone	Associate	25612624
Macular Degeneration	Associate	17438519, 17904186, 18162041, 18164066, 18206206, 18207215, 18316707, 18427598, 18682806, 18682812, 18718667, 19027484, 19043567, 19048105, 19065273 View all (72 more)
Macular Degeneration	Stimulate	36903482
Macular Degeneration Age Related 2	Associate	21197116, 21203342, 22155603, 22694956, 32191267
Macular dystrophy retinal 1 North Carolina type	Associate	29096998
Mastocytosis Cutaneous	Associate	30148508
Mitral Valve Insufficiency	Associate	33810615
Myopia	Associate	29383007
Neointima	Associate	31197037
Neoplasm Metastasis	Inhibit	22761798, 32486357
Neoplasms	Inhibit	17094466, 27809811
Neoplasms	Associate	19301262, 22761798, 32486357, 33025139, 37490912, 37842043
Nerve Degeneration	Associate	24535794
Nerve Degeneration	Stimulate	26463451
Neurilemmoma	Associate	33025139
Neurodegenerative Diseases	Associate	22851136
Neurologic Manifestations	Associate	22535953
Obesity	Associate	31517621
Optic Nerve Diseases	Associate	39264086
Osteoarthritis	Associate	16377621, 17968891, 19301262, 21279997, 26035313, 29695130
Osteosarcoma	Inhibit	40374042
Ovarian Neoplasms	Inhibit	16767218
Ovarian Neoplasms	Associate	21387310, 30131069
Pancreatic Neoplasms	Inhibit	30484491
Pediatric Obesity	Associate	36822266
Periodontal Diseases	Associate	24979214
Periodontitis	Associate	24979214
Personality Disorders	Associate	24979214
Plaque Amyloid	Associate	20207970, 23592924
Plaque Amyloid	Inhibit	22535953, 27379525
Polypoidal Choroidal Vasculopathy	Associate	20378180, 23326481, 25277308, 25771815, 26171855, 27338780, 32328755
Pre Eclampsia	Associate	22582805, 32587240, 37949031
Pre Eclampsia	Stimulate	40285515
Pregnancy Complications	Associate	22582805
Protein Losing Enteropathies	Associate	25277308
Proteostasis Deficiencies	Associate	31197037
Pulmonary Disease Chronic Obstructive	Associate	33535173
Reticular dysgenesis	Associate	40064387
Retinal Detachment	Associate	39264086
Retinal Drusen	Associate	22247473, 29269042, 31658355, 32407518
Retinal Dystrophies	Associate	29730901
Retinopathy of Prematurity	Associate	36822266
Sarcopenia	Associate	33743591
Schwannomatosis	Associate	33025139
Severe Acute Respiratory Syndrome	Associate	37949031
Smoke Inhalation Injury	Associate	18162041
Spinal Dysraphism	Associate	36047879
Spondylosis	Associate	19387015, 33109952
Squamous Cell Carcinoma of Head and Neck	Associate	37842043
Stomach Diseases	Associate	26568477, 37183214
Stomach Neoplasms	Associate	30611258, 37490912
Stomach Ulcer	Associate	16767218
Stroke	Associate	32106772, 33746601, 34946904, 36300346, 36580209, 36958462
Stroke Lacunar	Associate	31719132, 33746601
Tertiary Lymphoid Structures	Associate	22935172
Thyroid Cancer Papillary	Associate	23983263
Tuberculosis Multidrug Resistant	Associate	32776811
Vision Disorders	Associate	33369641

HTRA1 (HtrA serine peptidase 1)