1. Gene
  2. SPINK1 - serine peptidase inhibitor Kazal type 1 Gene

SPINK1 - serine peptidase inhibitor Kazal type 1 Gene

中文名称:丝氨酸肽酶抑制因子 Kazal 1 型

种属: Homo sapiens

同用名: TCP; PCTT; PSTI; TATI; Spink3

基因 ID: 6690 | 基因类型: protein coding

关于 SPINK1

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:147,824,582-147,839,196 (from NCBI)

This gene has 3 transcripts (splice variants), 88 orthologues and is associated with 5 phenotypes. Biased expression in pancreas (RPKM 2401.2), stomach (RPKM 337.4) and 2 other tissues.

功能概要

该基因编码的蛋白质是胰蛋白酶抑制剂,由胰腺腺泡细胞分泌到胰液中。它被认为在预防胰腺和胰管内胰蛋白酶催化的酶原过早激活方面起作用。该基因的突变与遗传性胰腺炎和热带钙化性胰腺炎有关。[RefSeq 提供,2008 年 10 月]

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]

SPINK1 基因产物(3)

mRNA Protein Name
NM_001354966.2 NP_001341895.1 serine protease inhibitor Kazal-type 1 precursor
NM_001379610.1 NP_001366539.1 serine protease inhibitor Kazal-type 1 precursor
NM_003122.5 NP_003113.2 serine protease inhibitor Kazal-type 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
14507909 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SPINK1 蛋白结构

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (32 - 79)

  • 0
  • 79 a.a.
蛋白主名 其他名称

serine protease inhibitor Kazal-type 1

pancreatic secretory trypsin inhibitor

重组 SPINK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71053 SPINK1 Protein, Human (HEK293, His) P00995 (D24-C79) ≥95%

关联疾病

疾病名称 别名
Tropical Calcific Pancreatitis

Tropical Pancreatitis

TCP

Fibrocalculous Pancreatic Diabetes

Tropical Calcific Chronic Pancreatitis

Fibrocalculous Pancreatic Diabetes, Susceptibility To

Tcp - [Tropical Chronic Pancreatitis]

Pancreatitis, Hereditary

Hereditary Pancreatitis

Chronic Pancreatitis

Hereditary Chronic Pancreatitis

Hp

Pancreatitis, Chronic, Susceptibility To

PCTT

Hpc

Pancreatitis, Chronic

Pancreatitis, Chronic, Protection Against

Autosomal Dominant Hereditary Pancreatitis

Familial Pancreatitis

Cp

Pancreatitis Hereditary

Prss1-Related Hereditary Pancreatitis
Diabetes Mellitus

Diabetes

Pancreatitis

Mumps Pancreatitis

Alcoholic Pancreatitis

Pancreatitis, Alcoholic

Pancreatitis Alcoholic

Parotitis
Acute Pancreatitis

Pancreatitis

Pancreatitis, Acute Necrotizing

Pancreatitis Nos

Acute Pancreas Inflammation

Pancreas Disease

Abnormality Of The Pancreas

Pancreatic Diseases

Exocrine Pancreatic Insufficiency
Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Pancreas, Annular

Annular Pancreas

Pancreas Annulare

Congenital Annular Pancreas

Acute Hemorrhagic Pancreatitis

Pancreatitis, Acute Hemorrhagic

Biliary Dyskinesia

Sphincter Of Oddi Dysfunction

Autoimmune Pancreatitis

Lymphoplasmocytic Sclerosing Pancreatitis

Aip

Parkinson Disease 8, Autosomal Dominant

Parkinson Disease 8

Autosomal Dominant Parkinson Disease 8

PARK8

Parkinson'S Disease 8

Autosomal Dominant Parkinson'S Disease 8

Parkinson Disease-8

Parkinson Disease, Type 8, Autosomal Dominant

Cervical Adenocarcinoma

Adenocarcinoma Cervix Uteri

Adenocarcinoma Of Cervix

Adenocarcinoma Of The Uterine Cervix

Adenocarcinoma Of The Cervix Uteri

Transitional Cell Carcinoma

Transitional Cell Neoplasm

Carcinoma, Transitional Cell

Transitional Carcinoma

Transitional Cell Tumor

Urothelial Cell Carcinoma

Carcinoma Transitional Cell

Transitional Cell Carcinoma Of Bladder

Duodenal Obstruction
Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency

CTLN2

Citrullinemia Type Ii

Adult-Onset Citrullinemia Type 2

Adult-Onset Type Ii Citrullinemia

Citrullinemia, Adult-Onset Type Ii

Adult-Onset Citrin Deficiency

Adult-Onset Citrullinemia Type Ii

Citrullinemia Type 2

Citrullinemia 2

Citrullinemia, Type Ii

Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole-Melanoma

Familial Atypical Multiple Mole Melanoma Syndrome

Melanoma-Pancreatic Cancer Syndrome

Famm Syndrome

B-K Mole Syndrome

Famm-Pc Syndrome

Fammm Syndrome

Familial Atypical Mole Syndrome

Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome

Familial Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole Melanoma

Dysplastic Nevus

Familial Atypical Mole Melanoma Syndrome

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Mikulicz Disease

Igg4-Related Dacryoadenitis And Sialadenitis

Mikulicz'S Disease

Chronic Dacryoadenitis And Sialadenitis

Mikulicz Syndrome

Mikulicz' Disease

Branchiootorenal Syndrome 2

BOR2

Bor Syndrome 2

Branchiootorenal Dysplasia 2

Branchio-Oto-Renal Dysplasia 2

Branchio-Oto-Renal Syndrome Type 2

Branchiootorenal Syndrome, Type 2

Bile Duct Cysts

Choledochal Cyst

Choledochal Cysts

Choledochocele

Biliary Cyst

Congenital Choledochal Cyst

Bile Duct Cyst

Congenital Cystic Dilatation Of The Biliary Tract

Congenital Bile Duct Dilatation

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Common Bile Duct Disease

Common Bile Duct Diseases

Arthrogryposis, Distal, Type 1c

DA1C

Distal Arthrogryposis Type 1c

Arthrogryposis, Distal, 1c

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Citrullinemia, Classic

Citrullinemia

Classic Citrullinemia

Argininosuccinate Synthetase Deficiency

Ass Deficiency

Citrullinemia Type I

CTLN1

Citrullinuria

Citrullinemia, Type I

Argininosuccinic Acid Synthetase Deficiency

Ctnl1

Citrullinemia 1

Deficiency Of Citrulline-Aspartate Ligase

Cit

Argininosuccinate Synthase Deficiency

Argininosuccinic Acid Synthase Deficiency

Citrullinemia Type 1

Citrullinemia Classical

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SPINK1 VGNC VGNC:53474
Rattus norvegicus SPINK1 RGD RGD:3749
Mus musculus SPINK1 MGD MGI:106202
Macaca mulatta SPINK1 VGNC VGNC:77860
Bos taurus SPINK1 VGNC VGNC:35219
Others SPINK1 NCBI