WNT1 - Wnt family member 1 Gene

Also Known as INT1; OI15; BMND16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7471

About WNT1

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:48,978,322-48,982,620 (from NCBI)

This gene has 1 transcript (splice variant), 204 orthologues, 18 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

Summary

The Wnt gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the Wnt gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]

WNT1 Products (1)

mRNA	Protein	Name
NM_005430.4	NP_005421.1	proto-oncogene Wnt-1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables receptor ligand activity	IDA IDA: Inferred from direct assay	28733458	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in bone development	IMP IMP: Inferred from mutant phenotype	23499309	GOA
involved in canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	10644691	GOA
involved in canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	12154096	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	16194878	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	12154096	GOA
involved in negative regulation of cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	17072303	GOA
involved in negative regulation of cell-substrate adhesion	IDA IDA: Inferred from direct assay	16501043	GOA
involved in negative regulation of cellular senescence	IDA IDA: Inferred from direct assay	16501043	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10644691	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19847889	GOA
involved in positive regulation of Notch signaling pathway	IDA IDA: Inferred from direct assay	16501043	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	16501043	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	19778454	GOA
involved in positive regulation of dermatome development	IDA IDA: Inferred from direct assay	10654605	GOA
involved in positive regulation of fibroblast proliferation	IMP IMP: Inferred from mutant phenotype	19734317	GOA
involved in positive regulation of insulin-like growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	12154096	GOA
involved in positive regulation of lamellipodium assembly	IMP IMP: Inferred from mutant phenotype	19756656	GOA
involved in response to wounding	IEP IEP: Inferred from expression pattern	17982423	GOA
involved in signal transduction in response to DNA damage	IDA IDA: Inferred from direct assay	16501043	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11793365	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WNT1 Protein Structure

wnt

0
100
200
300
370 a.a.

Protein Preferred Names	Protein Names
proto-oncogene Wnt-1	proto-oncogene Int-1 homolog

WNT1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83947	Wnt-1 Antibody (YA3644)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse
HY-P83947A	Wnt-1 Antibody (YA3644)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type Xv	Osteogenesis Imperfecta Type 15 OI15 Osteogenesis Imperfecta Type Xv Oi, Type Xv Osteogenesis Imperfecta 15 Oi Type Xv Oi-Xv
Bone Mineral Density Quantitative Trait Locus 16	Osteoporosis, Early-Onset, Susceptibility To BMND16 Osteoporosis, Early-Onset Osteoporosis, Early-Onset, Susceptibility To, Autosomal Dominant Osteoporosis, Early-Onset Autosomal Dominant Early Onset Osteoporosis
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Cerebellar Hypoplasia
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Craniodiaphyseal Dysplasia, Autosomal Dominant	CDD Autosomal Dominant Craniodiaphyseal Dysplasia Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia Autosomal Dominant
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
Osteoporosis-Pseudoglioma Syndrome	OPPG Ops Osteoporosis With Pseudoglioma Osteogenesis Imperfecta, Ocular Form Ocular Form Of Osteogenesis Imperfecta Osteogenesis Imperfecta Ocular Form Osteoporosis Pseudoglioma Syndrome Pseudoglioma With Bone Fragility
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Myxoid Liposarcoma	Myxoid/Round Cell Liposarcoma Liposarcoma, Myxoid Mrcls Myxoliposarcoma MXLIPO Liposarcoma Myxoid Liposarcoma
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
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
Robinow Syndrome	Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Robinow Dwarfism Mesomelic Dwarfism-Small Genitalia Syndrome Robinow-Silverman-Smith Syndrome Costovertebral Segmentation Defect With Mesomelia Covesdem Syndrome Robinow'S Syndrome Robinow-Silverman Syndrome
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Geotrichosis
Norrie Disease	Atrophia Bulborum Hereditaria Episkopi Blindness Pseudoglioma ND Norrie-Warburg Disease Anderson-Warburg Syndrome Fetal Iritis Syndrome Norrie Syndrome Norrie-Warburg Syndrome Ndp Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Norrie'S Disease Oligophrenia Microphthalmus Pseudoglioma Congenita Whitnall-Norman Syndrome
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Orofacial Cleft	Cleft, Orofacial
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-164528	SJ26	Inhibitor	98.65%	Unkown
HY-184895	CM002	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	WNT1	VGNC	VGNC:78794
Bos taurus	WNT1	VGNC	VGNC:36953
Felis catus	WNT1	VGNC	VGNC:67080
Rattus norvegicus	WNT1	RGD	RGD:1597195
Canis familiaris	WNT1	VGNC	VGNC:48419
Mus musculus	WNT1	MGD	MGI:98953
Others	WNT1	NCBI