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ST14 (ST14 transmembrane serine protease matriptase)
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 nameGene Name - the full gene name approved by the HGNC.
ST14 transmembrane serine protease matriptase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ST14
SynonymsGene synonyms aliases
ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14, SNC19, TADG15, TMPRSS14
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  MicroRNAs in cancer   Formation of the cornified envelope
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
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, rs766978225, rs761490126, rs367958902, rs1554105045, rs1554104853, rs1561701382, rs1561684604, rs753621591, rs1561680487, rs1561695740, rs1561686960, rs1581064755, rs1419297868, rs1581074967, rs752777832, rs1581096271, rs1362009010, rs759255682, rs1394583450, rs1366194827, rs1212676320, rs749828824, rs771730802, rs1752706120, rs1753397877 20657595
Unknown
Disease name Disease term dbSNP ID References
Hyperkeratosis Hyperkeratosis
Ichthyosis congenita Ichthyosiform Erythroderma, Congenital
Ichthyosis-hypotrichosis syndrome Ichthyosis-hypotrichosis syndrome
Prostatic neoplasms Prostatic Neoplasms 17013881

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