PRSS1 (serine protease 1)

Gene

• Entrez ID: 5644
• Gene name: Serine protease 1
• Gene symbol: PRSS1
• Synonyms (NCBI Gene): TRP1, TRY1, TRY4, TRYP1
• Chromosome: 7
• Chromosome location: 7q34
• Summary: This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033565	G>A	Pathogenic	Missense variant, coding sequence variant
rs111033566	A>C,T	Benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033567	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs111033568	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs143909348	G>A,C	Benign, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs189270875	G>C	Pathogenic, likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs193922655	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922656	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs199769221	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs202003805	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267606982	GC>AT	Pathogenic	Missense variant, coding sequence variant
rs387906698	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397507439	T>C	Pathogenic	Missense variant, coding sequence variant
rs397507440	T>A	Pathogenic	Missense variant, coding sequence variant
rs397507441	->TGACAAGAT	Pathogenic	Coding sequence variant, inframe insertion
rs397507442	A>G	Pathogenic	Missense variant, coding sequence variant
rs768853338	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554499091	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0004252	Function	Serine-type endopeptidase activity	TAS	8841182
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0007586	Process	Digestion	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28675934
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 276000
• HGNC: 9475
• e!Ensembl: ENSG00000204983

Protein

• UniProt ID: P07477
• Protein name: Serine protease 1 (EC 3.4.21.4) (Anionic trypsin I) (Anionic trypsin-I) (Beta-trypsin) (Cationic trypsinogen) (Pretrypsinogen I) (Trypsin I) (Trypsin-1) [Cleaved into: Alpha-trypsin chain 1; Alpha-trypsin chain 2]
• Protein function: Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates. {ECO:0000269|PubMe
• PDB: 1FXY, 1TRN, 2RA3, 4WWY, 4WXV, 7QE8, 7QE9, 8H3S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	24 → 239	Trypsin	Domain

• Sequence:

  MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVS
  AGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVIN
  ARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKIT
  SNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIK
  NTIAANS

• Sequence length: 247

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Pancreatic secretion
Protein digestion and absorption
Influenza A

Reactome:

Activation of Matrix Metalloproteinases
Cobalamin (Cbl, vitamin B12) transport and metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hereditary pancreatitis	Hereditary pancreatitis, Hereditary chronic pancreatitis	rs113993960, rs113993959, rs75527207, rs80034486, rs121909294, rs111033565, rs111033566, rs111033567, rs267606982, rs111033568, rs104893938, rs104893939, rs387906698, rs193922659, rs397507439, rs202003805, rs121908774, rs397508198, rs397508387, rs121909034, rs397508706, rs374705585, rs148954387, rs515726210, rs199769221, rs1805177, rs797045159, rs3034796, rs1060503164, rs1554382608, rs121909005, rs369503365, rs1554089895, rs1557508272, rs747905422, rs1562898489, rs1561606446, rs766917452, rs1570784592	8841182, 17568390, 9322498, 18755888, 9633818, 21907651, 11073545, 16791840, 11788572, 17003641, 30420730, 19951905, 16954950, 15017610, 11734061, 11866271, 10930381, 17204147, 24780743, 10204851, 15776435, 23455445, 23864476, 19454815, 24002981, 25383785, 10381903, 11719509, 11748242, 10872414, 16632094, 20502448, 11097832, 24413785, 22539344, 23601753, 22749696, 10801865, 17072318, 21415673, 18272034, 16505482, 16036133, 11260229, 14695529, 23686146, 24458023, 19453252, 15028953
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044

Unknown
Disease term	Disease name	Evidence	References	Source
Pancreatitis	Pancreatitis, Pancreatitis, Chronic, Acute recurrent pancreatitis, Autosomal Dominant Hereditary Pancreatitis, Recurrent pancreatitis, NON RARE IN EUROPE: Recurrent acute pancreatitis		23143602, 18206817, 25003218, 25383785, 8841182	ClinVar, GWAS
Pancreatic Neoplasm	malignant pancreatic neoplasm			GenCC
Sarcoidosis	Sarcoidosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	27179223
Anemia Aplastic	Stimulate	35435273
Ascites	Associate	34132023
Autoimmune Diseases	Associate	35435273
Autoimmune Pancreatitis	Associate	18442214, 23745036, 28151472
Carcinoma Hepatocellular	Associate	20532728
Carcinoma Pancreatic Ductal	Associate	37329816
Cerebral Palsy Ataxic Autosomal Recessive	Associate	19096130, 20676769
Cholangiocarcinoma	Associate	20198321
Colitis Ulcerative	Associate	23745029
Colorectal Neoplasms	Associate	29193645, 39670663
COVID 19	Associate	32771700
Cystic Fibrosis	Associate	20950468, 30807572, 33500570, 36206743
Diabetes Mellitus	Associate	26376395, 27179223
Disease	Associate	35974416
Drug Related Side Effects and Adverse Reactions	Associate	32342647
Genetic Diseases Inborn	Associate	23474566, 32026589
Hemorrhage	Associate	34132023
Hereditary pancreatitis	Associate	10026330, 10204851, 10208958, 11138965, 11156648, 11471204, 11719509, 11734061, 11788572, 11874252, 11932257, 11950815, 11950817, 15786540, 16354799, 19191323, 20452997, 21499207, 22539344, 22572128, 23455445, 23474566, 24413785, 25546417, 26376395, 26822915, 27129265, 30018304, 31822803, 32026589, 34132023, 35578795, 37603299, 39896151, 9713598, 9895387
Hodgkin Disease	Associate	18179710
Liposarcoma	Associate	33097431
Lymphatic Metastasis	Stimulate	33867821
Lymphoma Large Cell Anaplastic	Associate	18179710
Meconium Ileus	Associate	30807572
MELAS Syndrome	Associate	27179223
Mitochondrial Encephalomyopathies	Associate	27179223
Multiple Sclerosis	Associate	33603109
Neoplasms	Associate	15786540, 20198321, 24328148, 28069802, 32342647
Neoplasms	Stimulate	33867821
Neoplasms Cystic Mucinous and Serous	Associate	39198908
Ovarian Neoplasms	Associate	32342647
Pancreas Divisum	Associate	29864067
Pancreatic Neoplasms	Associate	15786540, 19690177, 25479140, 26546433, 30018304, 30538291, 31822803, 34797250, 39896151
Pancreatitis	Associate	11734061, 15082592, 15786540, 16354799, 20452997, 20676769, 20950468, 22572128, 23143602, 23474566, 23951356, 24413785, 25206283, 27064572, 27179223, 27578509, 29669919, 30467200, 30807572, 31088717, 32026589, 35226426, 37823318, 39172977, 39738564, 9895387
Pancreatitis Chronic	Associate	10208958, 11138965, 11950817, 15776435, 16354799, 16699518, 16981266, 18442214, 19191323, 20452997, 20676769, 23455445, 23474566, 23951356, 24260417, 24413785, 25297689, 25546417, 25835118, 26820620, 26822915, 28502372, 28754779, 30420730, 31088717, 32026589, 32079978, 32352720, 35974416, 35976273, 36369231, 37389024, 38334943, 39896151
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30467200
Progressive hearing loss stapes fixation	Associate	23143602
Renal Insufficiency	Associate	26376395
Secretory breast carcinoma	Associate	31822803
Sepsis	Associate	34132023
Stomach Neoplasms	Associate	26182300, 33867821, 36484990
Tropical Calcific Pancreatitis	Associate	16492714
Uterine Cervical Neoplasms	Associate	23255846
Weight Loss	Associate	27578509