宮崎大学｜生体分子機能化学研究室（榊原・黒木研）

Human TPSTs (2016/1/9)

　　　　　　　　　　　　　　　　　　　　　　　　

hTPST1	GeneID:8460
Aliases	Protein-Tyrosine Sulfotransferase 1, Transport And Golgi Organization 13 A (TANGO13A)
Localization	Tissue : variety of tissues Subcellular : Golgi apparatus
Functions	Protein-tyrosine sulfotransferase activity, Inflammatory response, Peptidyl-tyrosine sulfation
Genetic Disorders	Not reported
References	Lee et al. 1983, Baeuerle et al. 1987, Lin et al. 1990, Young et al. 1990, Sundaram et al. 1992, Sane et al. 1993, Ouyang et al. 1998, Ouyang and Moore 1998, Beisswanger et al. 1998, Kasinathan et al 2005, Nishimura et al 2007, Danan et al. 2010

　　　　　　　　　　　　　　　　　　　　　　　　

hTPST2	GeneID:8459
Aliases	Protein-Tyrosine Sulfotransferase 2, Transport And Golgi Organization 13 B (TANGO13B)
Localization	Tissue : variety of tissues Subcellular : Golgi apparatus, Endoplasmic reticulum
Functions	Protein-tyrosine sulfotransferase activity, Prevention of polyspermy, Peptidyl- tyrosine sulfation
Genetic Disorders	Not reported
References	Lee et al. 1983, Baeuerle et al. 1987, Lin et al. 1990, Young et al. 1990, Sundaram et al. 1992, Sane et al. 1993, Ouyang et al. 1998 Ouyang and Moore 1998, Beisswanger et al. 1998, Kasinathan et al 2005, Nishimura et al 2007, Danan et al. 2010

Tyrosine sulfated proteins (2016/1/9)

　　　　　　　　　　　　　　　　　　　　　　　　

Fibrinogen	GeneID:2243, 2244, 2266
Localization	Tissue : variety of tissues Subcellular : Extracellular, plasma membrane
Functions	Blood coagulation, Extracellular matrix organization, Cell-matrix adhesion, Platelet activation, Platelet aggregation, Platelet degranulation, Fibrinolysis, Plasminogen activation, Signal transduction, Negative regulation of endothelial cell apoptotic process, Protein secretion etc.
Genetic Disorders	Congenital afibrinogenemia, Thrombophilia, Hypofibrinogenemia, Dysfibrinogenemia, Afibrinogenemia, Pulmonary embolism, Peripheral vascular disease etc.
References	Hortin et al. 1989, Meh et al. 2001, Lovely et al. 2003, Gu et al. 2000, Olin et al. 2001, Sasaki et al. 1999

　　　　　　　　　　　　　　　　　　　　　　　　

Factor V	GeneID:2153
Localization	Tissue : variety of tissues Subcellular : Extracellular, plasma membrane
Functions	Blood coagulation, Blood circulation, ER to Golgi vesicle-mediated transport, Protein N-linked glycosylation via asparagine, COPII vesicle coating, Platelet activation, Membrane organization etc.
Genetic Disorders	Budd-chiari syndrome, Thrombophilia, Stroke, Pregnancy loss, Bleeding disorder, Ischemic, Retinal vein occlusion, Hypoprothrombinemia, Mediastinitis, Bone marrow necrosis, May-thurner syndrome, Severe hemophilia, Legg-calve-perthes disease, Placental abruption, Antiphospholipid syndrome, Eclampsia, Sneddon syndrome, Emaurosis fugax, etc.
References	Pittman et al. 1994

　　　　　　　　　　　　　　　　　　　　　　　　

Factor VIII	GeneID:2157
Aliases	Tissue : variety of tissues Subcellular : Extracellular, plasma membrane
Functions	Blood coagulation, ER to Golgi vesicle- mediated transport, COPII vesicle coating, Membrane organization, Platelet activation, Platelet degranulation, Protein N-linked glycosylation via asparagine etc.
Genetic Disorders	Budd-chiari syndrome, Thrombophilia, Stroke, Pregnancy loss, Bleeding disorder, Ischemic, Retinal vein occlusion, Hypoprothrombinemia, Mediastinitis, Bone marrow necrosis, May-thurner syndrome, Severe hemophilia, Legg-calve-perthes disease, Placental abruption, Antiphospholipid syndrome, Eclampsia, Sneddon syndrome, Emaurosis fugax, etc.
References	Higuchi et al. 1990, Leyte et al. 1991

　　　　　　　　　　　　　　　　　　　　　　　　

Selectin P	GeneID:6403
Aliases	Tissue : B-lymphosyte, liver, oral epithelium, cerebral cortex etc. Subcellular : Extracellular, plasma membrane, nucleus
Functions	Blood coagulation, Cell adhesion, Cellular response to interleukin-6, Leukocyte adhesive activation, Leukocyte migration, Leukocyte tethering or rolling etc.
Genetic Disorders	Human granulocytic anaplasmosis, Ehrlichiosis, Pustulosis palmaris et plantaris, Cerebrovascular disease, Primary effusion lymphoma etc.
References	Ramachandran et al. 1999, Rodgers et al. 2001

　　　　　　　　　　　　　　　　　　　　　　　　

CCR5	GeneID:1234
Localization	Tissue : variety of tissues Subcellular : Endosome, plasma membrane
Functions	Calcium-mediated signaling, Cell-Cell signaling, Cellular defense response, Cellular response to lipopolysaccharide, Chemotaxis, Entry into host cell, Inflammatory response etc.
Genetic Disorders	West nile virus, Diabetes mellitus, Susceptibility/resistance to hiv infection, Hepatitis c virus, Syphilis, Whiplash, Intermediate uveitis, Secondary syphilis, Cytomegalovirus retinitis, Erdheim-chester disease etc.
References	Farzan et al. 1999

　　　　　　　　　　　　　　　　　　　　　　　　

CCR2b	GeneID:2243, 2244, 2266
Localization	Tissue : variety of tissues Subcellular : Extracellular, plasma membrane
Functions	Blood coagulation, Extracellular matrix organization, Cell-matrix adhesion, Platelet activation, Platelet aggregation, Platelet degranulation, Fibrinolysis, Plasminogen activation, Signal transduction, Negative regulation of endothelial cell apoptotic process, Protein secretion etc.
Genetic Disorders	Congenital afibrinogenemia, Thrombophilia, Hypofibrinogenemia, Dysfibrinogenemia, Afibrinogenemia, Pulmonary embolism, Peripheral vascular disease etc.
References	Hortin et al. 1989, Meh et al. 2001, Lovely et al. 2003, Gu et al. 2000, Olin et al. 2001, Sasaki et al. 1999

　　　　　　　　　　　　　　　　　　　　　　　　

CXCR3	GeneID:2833
Localization	Tissue : CD8 T cell Subcellular : Plasma membrane
Functions	Angiogenesis, Apoptotic process, Calcium- mediated signaling, Cell adhesion, Inflammatory response, Regulation of leukocyte migration, T cell chemotaxis etc.
Genetic Disorders	Lichen planus, Intermediate uveitis, Viral meningitis, Chromoblastomycosis, Alk-negative anaplastic large cell lymphoma, Complex regional pain syndrome type 1, Periapical granuloma, Mycosis fungoides, Complex regional pain syndrome, Paragonimiasis, Bronchiolitis obliterans Chronic eosinophilic pneumonia etc.
References	Colvin et al. 2006

　　　　　　　　　　　　　　　　　　　　　　　　

CXCR4	GeneID:7852
Localization	Tissue : B lympnosyte, T lymphosyte, platelet, testis, rectum etc. Subcellular : Plasma membrane
Functions	Apoptotic process, Calcium-mediated signaling, Entry into host cell, Myelin maintenance, Inflammatory response, Neutrophil activation etc.
Genetic Disorders	Whim syndrome, Intraocular lymphoma, Retinal hemangioblastoma, Enchondroma, Mitral valve disease, Vipoma, Familial chronic lymphocytic leukemia, Oligoastrocytoma, Breast cancer Chronic lymphocytic leukemia etc.
References	Farzan et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

CX3CR1	GeneID:1524
Localization	Tissue : CD8 T cell, monocyte, liver, kidney, lung, adrenal etc. Subcellular : Plasma membrane
Functions	Cell adhesion, Cerebral cortex cell migration, Chemotaxis, Viral process, Microglial cell activation involved in immune response, Cellular response to lipopolysaccharide etc.
Genetic Disorders	Macular degeneration, HIV-1, Coronary artery disease, Retinal vasculitis, HTLV-1 associated myelopathy/tropical spastic paraparesis, HTLV-1 associated myelopathy, Cerebrovascular disease, Tropical spastic paraparesis, Spastic paraparesis, Artery disease
References	Fong et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

TSHR	GeneID:7253
Localization	Tissue : heart, brain, plasma, tyroid Subcellular : Plasma membrane
Functions	Activation of adenylate cyclase activity, Cell-cell signaling, Positive regulation of cell proliferation etc.
Genetic Disorders	Nonautoimmune, Hypothyroidism, Athyreosis, Myxedema, Thyrotoxicosis, Multinodular goiter, Toxic diffuse goiter, Nontoxic goiter, Struma ovarii, Thyroid adenoma, thyroid cancer, Thyrotoxic periodic paralysis etc.
References	Costagliola et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

LHCGR	GeneID:3973
Localization	Tissue : Ovary(fetal) Subcellular : Plasma membrane, endosome
Functions	Activation of adenylate cyclase activity, Gonad development, Cellular response to gonadotropin stimulus, Ovulation cycle process, Spermatogenesis etc.
Genetic Disorders	Precocious puberty, Leydig cell hypoplasia with pseudohermaphroditism, Testotoxicosis, Ovarian epithelial cancer, Adenoma, Pseudohermaphroditism, Amenorrhea, Cushing's syndrome
References	Costagliola et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

FSHR	GeneID:2492
Localization	Tissue : Not reported Subcellular : Plasma membrane
Functions	Activation of adenylate cyclase activity, Gonad development, Follicle-stimulating hormone signaling pathway, Primary ovarian follicle growth, Spermatogenesis, Uterus development etc.
Genetic Disorders	Ovarian dysgenesis 1, Estrogen excess Mucinous cystadenocarcinoma, Ovarian hyperstimulation syndrome, Ovarian response to fsh stimulation, Ovarian mucinous cystadenocarcinoma, xx testicular disorder of sex development etc.
References	Costagliola et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

Fibromodulin	GeneID:2331
Localization	Tissue : variety of tissues Subcellular : Extracellular, Golgi apparatus, lysosome, vacuole
Functions	Carbohydrate metabolic process, Extracellular matrix organization, Glycosaminoglycan metabolic process, Keratan sulfate biosynthetic process, Transforming growth factor beta receptor complex assembly etc.
Genetic Disorders	Myopia, Pseudoachondroplasia, Chronic lymphocytic leukemia
References	Onnerfjord et al. 2004, Antonsson et al. 1991

　　　　　　　　　　　　　　　　　　　　　　　　

Lumican	GeneID:4060
Localization	Tissue : variety of tissues Subcellular : Extracellular, Golgi apparatus, lysosome, vacuole
Functions	Cartilage development, Collagen fibril organization, Extracellular matrix organization, Glycosaminoglycan metabolic process, Keratan sulfate biosynthetic process, Response to growth factor etc.
Genetic Disorders	Cornea plana, Posterior amorphous corneal dystrophy
References	Onnerfjord et al. 2004

　　　　　　　　　　　　　　　　　　　　　　　　

Osteoadherin	GeneID:4958
Localization	Tissue : cerebral cortex, ovary, oral epithelium, breast, placenta etc. Subcellular : Extracellular, Golgi apparatus, lysosome, vacuole
Functions	Carbohydrate metabolic process, Cell adhesion, Glycosaminoglycan metabolic process, Keratan sulfate biosynthetic process etc.
Genetic Disorders	Aneurysmal bone cysts, Blepharospasm
References	Onnerfjord et al. 2004

　　　　　　　　　　　　　　　　　　　　　　　　

Fibronectin	GeneID:2335
Localization	Tissue : variety of tissues Subcellular : Plasma membrane, Cytoskeleton, Extracellular
Functions	Calcium-independent cell-matrix adhesion, Blood coagulation, Angiogenesis, Acute- phase response, Cell adhesion, Endodermal cell differentiation, Cell-substrate junction assembly, Extracellular matrix disassembly, Extracellular matrix organization, Integrin activation, Leukocyte migration etc.
Genetic Disorders	Glomerulopathy, Arterial tortuosity syndrome, Plasma fibronectin deficiency, Calciphylaxis, Cryofibrinogenemia, Secondary syphilis, Mycobacterium kansasii, Vitreous detachment, Weber syndrome, Secretory meningioma, Type ii mixed cryoglobulinemia, Myeloma, Ureteral disease, Colorectal cancer
References	Paul et al. 1984

　　　　　　　　　　　　　　　　　　　　　　　　

Fibrillin 1/2	GeneID:2200, 2201
Aliases	Tissue : variety of tissue Subcellular : Extracellular
Functions	Anatomical structure morphogenesis, Camera-type eye development, Embryonic eye morphogenesis, Extracellular matrix organization, Heart development, Metanephros development, Skeletal system development etc.
Genetic Disorders	Acromicric dysplasia, Geleophysic dysplasia 2, Marfan syndrome, Ectopia lentis, Stiff joints and short stature syndrome, Isolated ectopia lentis, Marfan syndrome, Mass syndrome, Lens subluxation, Aortic disease, Macular degeneration, Weill-marchesani syndrome etc.
References	Monigatti et al. 2002

　　　　　　　　　　　　　　　　　　　　　　　　

Coll5A1	GeneID:1289
Localization	Tissue : variety of tissues Subcellular : Extracellular, Endoplasmic reticulum
Functions	Blood vessel development, Cell adhesion, Cell migration, Collagen fibril organization, Extracellular fibril organization, Extracellular matrix organization, Eye morphogenesis, Heart morphogenesis, Integrin biosynthetic process, Skin development, Tendon development etc.
Genetic Disorders	Ehlers-danlos syndrome, Annular pancreas, Duodenal atresia, Tendinopathy, Familial cervical artery dissections, Nail-patella syndrome etc.
References	Fessler et al. 1986, Fang et al. 2012

　　　　　　　　　　　　　　　　　　　　　　　　

Coll3A1	GeneID:1281
Localization	Tissue : variety of tissues Subcellular : Extracellular, Endoplasmic reticulum
Functions	Aging, Axon guidance, Cell-matrix adhesion, Cerebral cortex development, Collagen fibril organization, Digestive tract development, Extracellular fibril organization, Extracellular matrix organization, Heart development, Platelet activation, Regulation of immune response, Skeletal system development, Skin development etc.
Genetic Disorders	Ehlers-danlos syndrome, Acrogeria, Abdominal aortic aneurysm, Familial cerebral saccular aneurysm, Hiatus hernia, Larsen-like syndrome, Familial cervical artery dissections, Hypermobility syndrome, Marfan syndrome, Thoracic aortic aneurysm etc.
References	Jukkola et al. 1986

　　　　　　　　　　　　　　　　　　　　　　　　

Coll11A1/2	GeneID:1301, 1302
Localization	Tissue : Extracellular, Endoplasmic reticulum
Functions	Cartilage condensation, visual perception, Chondrocyte development, Endodermal cell differentiation, Ventricular cardiac muscle tissueCollagen catabolic process, Collagen fibril organization, Extracellular matrix organization, Embryonic skeletal system morphogenesis, Ossification, Tendon development etc.
Genetic Disorders	Stickler syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Weissenbacher-zweymuller syndrome, Fibrochondrogenesis 2, Back pain, Intervertebral disc disease, Spinal stenosis, Multiple epiphyseal dysplasia etc.
References	Fang et al. 2012, Chandrasekhar et al. 1983, Dzamba et al. 1993, Nykvist et al. 2000, Morin et al. 2006, Schuppan et al. 1998