TMPRSS15 (transmembrane serine protease 15)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5651
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane serine protease 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMPRSS15
Synonyms (NCBI Gene) Gene synonyms aliases
ENTK, PRSS7
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linke
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs77200626 G>C Pathogenic Coding sequence variant, stop gained
rs121908059 G>A Pathogenic Coding sequence variant, stop gained
rs121908060 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs138221037 A>C Pathogenic Splice donor variant
rs780802518 AC>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(36)
miRTarBase ID miRNA Experiments Reference
MIRT450379 hsa-miR-548c-3p PAR-CLIP 22100165
MIRT447394 hsa-miR-654-3p PAR-CLIP 22100165
MIRT447393 hsa-miR-3920 PAR-CLIP 22100165
MIRT447392 hsa-miR-29a-5p PAR-CLIP 22100165
MIRT447391 hsa-miR-873-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005044 Function Scavenger receptor activity IEA
GO:0005515 Function Protein binding IPI 24407287
GO:0005903 Component Brush border TAS 8052624
GO:0006508 Process Proteolysis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606635 9490 ENSG00000154646
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P98073
Protein name Enteropeptidase (EC 3.4.21.9) (Enterokinase) (Serine protease 7) (Transmembrane protease serine 15) [Cleaved into: Enteropeptidase non-catalytic heavy chain; Enteropeptidase catalytic light chain]
Protein function Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen,
PDB 4DGJ , 6ZOV , 7WQX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01390 SEA 56 → 158 SEA domain Family
PF00057 Ldl_recept_a 182 → 221 Low-density lipoprotein receptor domain class A Repeat
PF00431 CUB 225 → 331 CUB domain Domain
PF00629 MAM 347 → 503 MAM domain, meprin/A5/mu Domain
PF00431 CUB 524 → 631 CUB domain Domain
PF00057 Ldl_recept_a 641 → 677 Low-density lipoprotein receptor domain class A Repeat
PF15494 SRCR_2 690 → 776 Scavenger receptor cysteine-rich domain Domain
PF00089 Trypsin 785 → 1014 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Intestinal brush border.
Sequence 
MGSKRGISSRHHSLSSYEIMFAALFAILVVLCAGLIAVSCLTIKESQRGAALGQSHEARA
TFKITSGVTYNPNLQDKLSVDFKVLAFDLQQMIDEIFLSSNLKNEYKNSRVLQFENGSII
VVFDLFFAQWVSDENVKEELIQGLEANKSSQLVTFHIDLNSVDILDKLTTTSHLATPGNV
SIECLPGSSPCTDALTCIKADLFCDGEVNCPDGSDEDNKMCATVCDGRFLLTGSSGSFQA
THYPKPSETSVVCQWIIRVNQGLSIKLSFDDFNTYYTDILDIYEGVGSSKILRASIWETN
PGTIRIFSNQVTATFLIESDESDYVGFNATYTAFNSSELNNYEKINCNFEDGFCFWVQDL
NDDNEWERIQGSTFSPFTGPNFDHTFGNASGFYISTPTGPGGRQERVGLLSLPLDPTLEP
ACLSFWYHMYGENVHKLSINISNDQNMEKTVFQKEGNYGDNWNYGQVTLNETVKFKVAFN
AFKNKILSDIALDDISLTYGICNGSLYPEPTLVPTPPPELPTDCGGPFELWEPNTTFSST
NFPNSYPNLAFCVWILNAQKGKNIQLHFQEFDLENINDVVEIRDGEEADSLLLAVYTGPG
PVKDVFSTTNRMTVLLITNDVLARGGFKANFTTGYHLGIPEPCKADHFQCKNGECVPLVN
LCDGHLHCEDGSDEADCVRFFNGTTNNNGLVRFRIQSIWHTACAENWTTQISNDVCQLLG
LGSGNSSKPIFPTDGGPFVKLNTAPDGHLILTPSQQCLQDSLIRLQCNHKSCGKKLAAQD
ITPKIVGGSNAKEGAWPWVVGLYYGGRLLCGASLVSSDWLVSAAHCVYGRNLEPSKWTAI
LGLHMKSNLTSPQTVPRLIDEIVINPHYNRRRKDNDIAMMHLEFKVNYTDYIQPICLPEE
NQVFPPGRNCSIAGWGTVVYQGTTANILQEADVPLLSNERCQQQMPEYNITENMICAGYE
EGGIDSCQGDSGGPLMCQENNRWFLAGVTSFGYKCALPNRPGVYARVSRFTEWIQSFLH
Sequence length 1019
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Enterokinase deficiency Enterokinase Deficiency rs77200626, rs121908059, rs121908060, rs780802518, rs1555909961 11719902
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Down Syndrome Inhibit 15716609
Enterokinase Deficiency Associate 11719902