TMPRSS15 (transmembrane serine protease 15)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 5651
Gene name Transmembrane serine protease 15
Gene symbol TMPRSS15
Synonyms (NCBI Gene)
ENTKPRSS7
Chromosome 21
Chromosome location 21q21.1
Summary 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.
6
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.
36
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 24407287
GO:0005903 Component Brush border TAS 8052624
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606635 9490 ENSG00000154646
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Enterokinase deficiency Pathogenic; Likely pathogenic rs2146856395, rs765937590, rs376129645, rs767258888, rs77200626, rs121908059, rs121908060, rs780802518, rs753574461, rs1555909961, rs749950017, rs748851550 RCV001844306
RCV001785070
RCV001783880
RCV005628366
RCV000004381
RCV000004382
RCV000004383
RCV000004384
RCV003447656
RCV000626320
RCV001250181
RCV001250180
TMPRSS15-related disorder Likely pathogenic rs1389176938, rs753574461 RCV003412533
RCV003411997
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs1540000 RCV005932149
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Down Syndrome Inhibit 15716609
Enterokinase Deficiency Associate 11719902