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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6768
Gene name Gene Name - the full gene name approved by the HGNC.	ST14 transmembrane serine protease matriptase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ST14
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14, SNC19, TADG15, TMPRSS14
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ARCI11
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has b

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852931	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852932	G>A	Pathogenic	Initiator codon variant, missense variant
rs150984123	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs587777262	G>A	Pathogenic	Splice donor variant
rs587777263	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591892666	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(57)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003388	hsa-miR-27b-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	19546220
MIRT003388	hsa-miR-27b-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	19546220
MIRT003388	hsa-miR-27b-3p	Review	20026422
MIRT017020	hsa-miR-335-5p	Microarray	18185580
MIRT039751	hsa-miR-615-3p	CLASH	23622248
MIRT1393193	hsa-miR-1908	CLIP-seq
MIRT1393194	hsa-miR-3192	CLIP-seq
MIRT1393195	hsa-miR-329	CLIP-seq
MIRT1393196	hsa-miR-3620	CLIP-seq
MIRT1393197	hsa-miR-362-3p	CLIP-seq
MIRT1393198	hsa-miR-3662	CLIP-seq
MIRT1393199	hsa-miR-3941	CLIP-seq
MIRT1393200	hsa-miR-4292	CLIP-seq
MIRT1393201	hsa-miR-4300	CLIP-seq
MIRT1393202	hsa-miR-4307	CLIP-seq
MIRT1393203	hsa-miR-466	CLIP-seq
MIRT1393204	hsa-miR-4672	CLIP-seq
MIRT1393205	hsa-miR-4711-3p	CLIP-seq
MIRT1393206	hsa-miR-4719	CLIP-seq
MIRT1393207	hsa-miR-4723-5p	CLIP-seq
MIRT1393208	hsa-miR-4729	CLIP-seq
MIRT1393209	hsa-miR-4731-3p	CLIP-seq
MIRT1393210	hsa-miR-4801	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT1393212	hsa-miR-603	CLIP-seq
MIRT1393213	hsa-miR-663	CLIP-seq
MIRT1393214	hsa-miR-920	CLIP-seq
MIRT2118062	hsa-miR-3180-5p	CLIP-seq
MIRT2118063	hsa-miR-4314	CLIP-seq
MIRT2118064	hsa-miR-4330	CLIP-seq
MIRT2118065	hsa-miR-4667-5p	CLIP-seq
MIRT2118066	hsa-miR-4685-5p	CLIP-seq
MIRT2118067	hsa-miR-4700-5p	CLIP-seq
MIRT2118068	hsa-miR-4758-3p	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT2118069	hsa-miR-523	CLIP-seq
MIRT2118070	hsa-miR-622	CLIP-seq
MIRT2118071	hsa-miR-637	CLIP-seq
MIRT2118072	hsa-miR-661	CLIP-seq
MIRT2339966	hsa-miR-1827	CLIP-seq
MIRT2339967	hsa-miR-199a-5p	CLIP-seq
MIRT2339968	hsa-miR-199b-5p	CLIP-seq
MIRT2339969	hsa-miR-335	CLIP-seq
MIRT2339970	hsa-miR-3612	CLIP-seq
MIRT2339971	hsa-miR-378g	CLIP-seq
MIRT2339972	hsa-miR-3915	CLIP-seq
MIRT2339973	hsa-miR-3928	CLIP-seq
MIRT2339974	hsa-miR-3929	CLIP-seq
MIRT2339975	hsa-miR-4419b	CLIP-seq
MIRT2339976	hsa-miR-4443	CLIP-seq
MIRT2339977	hsa-miR-4478	CLIP-seq
MIRT1393211	hsa-miR-485-5p	CLIP-seq
MIRT2339978	hsa-miR-501-3p	CLIP-seq
MIRT2339979	hsa-miR-502-3p	CLIP-seq
MIRT2339980	hsa-miR-516a-3p	CLIP-seq
MIRT2339981	hsa-miR-650	CLIP-seq
MIRT2118072	hsa-miR-661	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	10831593
GO:0006508	Process	Proteolysis	IDA	19911255
GO:0008236	Function	Serine-type peptidase activity	IDA	19911255
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019897	Component	Extrinsic component of plasma membrane	IEA
GO:0030216	Process	Keratinocyte differentiation	IBA	21873635
GO:0030216	Process	Keratinocyte differentiation	IMP	18843291
GO:0060672	Process	Epithelial cell morphogenesis involved in placental branching	IEA
GO:0070268	Process	Cornification	TAS

MIM	HGNC	e!Ensembl
606797	11344	ENSG00000149418

Protein

UniProt ID

Q9Y5Y6

Protein name

Suppressor of tumorigenicity 14 protein (EC 3.4.21.109) (Matriptase) (Membrane-type serine protease 1) (MT-SP1) (Prostamin) (Serine protease 14) (Serine protease TADG-15) (Tumor-associated differentially-expressed gene 15 protein)

Protein function

Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) pr

PDB

1EAW , 1EAX , 2GV6 , 2GV7 , 3BN9 , 3NCL , 3NPS , 3P8F , 3P8G , 3SO3 , 4IS5 , 4ISL , 4ISN , 4ISO , 4JYT , 4JZ1 , 4JZI , 4O97 , 4O9V , 4R0I , 5LYO , 6N4T , 6T9T , 8G1V , 8G1W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01390	SEA	88 → 177	SEA domain	Family
PF00431	CUB	223 → 331	CUB domain	Domain
PF00431	CUB	340 → 444	CUB domain	Domain
PF00057	Ldl_recept_a	451 → 486	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	487 → 523	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	524 → 559	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	565 → 602	Low-density lipoprotein receptor domain class A	Repeat
PF00089	Trypsin	615 → 849	Trypsin	Domain

Sequence

MGSDRARKGGGGPKDFGAGLKYNSRHEKVNGLEEGVEFLPVNNVKKVEKHGPGRWVVLAA
VLIGLLLVLLGIGFLVWHLQYRDVRVQKVFNGYMRITNENFVDAYENSNSTEFVSLASKV
KDALKLLYSGVPFLGPYHKESAVTAFSEGSVIAYYWSEFSIPQHLVEEAERVMAEERVVM
LPPRARSLKSFVVTSVVAFPTDSKTVQRTQDNSCSFGLHARGVELMRFTTPGFPDSPYPA
HARCQWALRGDADSVLSLTFRSFDLASCDERGSDLVTVYNTLSPMEPHALVQLCGTYPPS
YNLTFHSSQNVLLITLITNTERRHPGFEATFFQLPRMSSCGGRLRKAQGTFNSPYYPGHY
PPNIDCTWNIEVPNNQHVKVRFKFFYLLEPGVPAGTCPKDYVEINGEKYCGERSQFVVTS
NSNKITVRFHSDQSYTDTGFLAEYLSYDSSDPCPGQFTCRTGRCIRKELRCDGWADCTDH
SDELNCSCDAGHQFTCKNKFCKPLFWVCDSVNDCGDNSDEQGCSCPAQTFRCSNGKCLSK
SQQCNGKDDCGDGSDEASCPKVNVVTCTKHTYRCLNGLCLSKGNPECDGKEDCSDGSDEK
DCDCGLRSFTRQARVVGGTDADEGEWPWQVSLHALGQGHICGASLISPNWLVSAAHCYID
DRGFRYSDPTQWTAFLGLHDQSQRSAPGVQERRLKRIISHPFFNDFTFDYDIALLELEKP
AEYSSMVRPICLPDASHVFPAGKAIWVTGWGHTQYGGTGALILQKGEIRVINQTTCENLL
PQQITPRMMCVGFLSGGVDSCQGDSGGPLSSVEADGRIFQAGVVSWGDGCAQRNKPGVYT
RLPLFRDWIKENTGV

Sequence length

855

Interactions

View interactions

	KEGG		Reactome
	MicroRNAs in cancer		Formation of the cornified envelope

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819 View all (18 more)
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis with hypotrichosis	Ichthyosis with hypotrichosis, autosomal recessive	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476	18445049, 17273967, 18843291
Netherton syndrome	Ichthyosis linearis circumflexa	rs121908387, rs587777749, rs565782662, rs201269335, rs748978134, rs199757347, rs1057518067, rs1057518161, rs368134354, rs775341740, rs752941297, rs1057520643, rs756874525, rs1131691490, rs373463881 View all (25 more)	20657595
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Congenital Ichthyosis	autosomal recessive congenital ichthyosis 11			GenCC

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	14584072
Adenoma	Inhibit	16820046
Adrenoleukodystrophy	Associate	2986139
Bazex Dupre Christol syndrome	Associate	18843291, 29208051
Breast Neoplasms	Associate	16407223, 19546220, 27167193, 34418985
Carcinoma Non Small Cell Lung	Associate	20980099
Carcinoma Squamous Cell	Stimulate	14584072
Cataract and congenital ichthyosis	Associate	35964051
Chromosome Fragility	Associate	2986139
Colorectal Neoplasms	Associate	16237759, 16820046
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29208051
Fragile X Syndrome	Associate	2903666
Hair Diseases	Associate	18843291
Hemophilia A	Associate	15307098, 16628729, 2986139, 8261733, 9092680, 9504646
Hypotrichosis	Associate	17273967, 18843291, 29208051, 30982314
Ichthyosis	Associate	18843291, 29208051, 30982314
Ichthyosis with hypotrichosis autosomal recessive	Associate	29208051, 29611532
Intellectual Disability	Associate	2986139
Kidney Neoplasms	Associate	16407223
Lamellar ichthyosis type 3	Associate	17273967
Lung Neoplasms	Associate	20980099
Lymphedema	Associate	35964051
Lymphoma Mantle Cell	Associate	22150124
Mental Retardation X Linked	Associate	1870093
Muscular Dystrophy Emery Dreifuss	Associate	2879931, 8445613
Neoplasm Metastasis	Associate	11696548
Neoplasms	Associate	11696548, 15611789, 22150124
Neoplasms	Inhibit	16820046
Ovarian Neoplasms	Associate	15611789
Prostatic Neoplasms	Associate	15928670
Prostatitis	Associate	10500122
Skin Diseases	Associate	17273967
Stomach Neoplasms	Associate	16273651
Uterine Cervical Neoplasms	Associate	14584072

ST14 (ST14 transmembrane serine protease matriptase)