ENO1 (GeneID: 2023) | Homo sapiens
Description: enolase 1 [Source:HGNC Symbol;Acc:HGNC:3350]
Synonyms: NNE, ENO1L1, MPB1, PPH, HEL-S-17
Other ID(s): HGNC:3350, ENSG00000074800
Protein Accession Numbers: NP_001419, ENST00000489867, NP_001188412, ENST00000234590, ENST00000497492
Statistics: ClinVar(2) PTM(122)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000234590 ENST00000489867 ENST00000497492 NP_001188412 You are here now! NP_001419


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00113 Enolase_C Enolase, C-terminal TIM barrel domain 142-432 CL0256 Enolase_TIM Homo sapiens
PF03952 Enolase_N Enolase, N-terminal domain 3-134 CL0227 Enolase_N Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.516 0.828
Osteoporosis, Age-Related Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.516 0.828
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Rheumatoid Arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.516 0.828
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.516 0.828
Carcinoma Neoplasms ; 0.516 0.828
Non-Small Cell Lung Carcinoma Neoplasms ; Respiratory Tract Diseases ; 0.516 0.828
Squamous cell carcinoma Neoplasms ; 0.516 0.828
Cytopenia N/A 0.516 0.828
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Esophageal Neoplasms Neoplasms ; Digestive System Diseases ; 0.516 0.828
Hepatitis, Toxic Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
Male infertility Male Urogenital Diseases ; 0.516 0.828
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.516 0.828
Animal Mammary Neoplasms Neoplasms ; Animal Diseases ; 0.516 0.828
Mammary Neoplasms, Experimental Neoplasms ; 0.516 0.828
Mouth Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.516 0.828
Neoplasm Invasiveness Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.516 0.828
Degenerative polyarthritis Musculoskeletal Diseases ; 0.516 0.828
Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.516 0.828
Osteoporosis, Senile Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.516 0.828
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.516 0.828
Osteoarthrosis Deformans Musculoskeletal Diseases ; 0.516 0.828
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.516 0.828
Malignant neoplasm of mouth Neoplasms ; Stomatognathic Diseases ; 0.516 0.828
Congenital anemia N/A 0.516 0.828
Adenocarcinoma, Basal Cell Neoplasms ; 0.516 0.828
Adenocarcinoma, Oxyphilic Neoplasms ; 0.516 0.828
Carcinoma, Cribriform Neoplasms ; 0.516 0.828
Carcinoma, Granular Cell Neoplasms ; 0.516 0.828
Adenocarcinoma, Tubular Neoplasms ; 0.516 0.828
Anaplastic carcinoma Neoplasms ; 0.516 0.828
Carcinoma, Spindle-Cell Neoplasms ; 0.516 0.828
Undifferentiated carcinoma Neoplasms ; 0.516 0.828
Carcinomatosis Neoplasms ; 0.516 0.828
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Necrotizing Enterocolitis Digestive System Diseases ; 0.516 0.828
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Malignant neoplasm of esophagus Neoplasms ; Digestive System Diseases ; 0.516 0.828
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.516 0.828
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.516 0.828
Post-Traumatic Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.516 0.828
Subfertility, Male Male Urogenital Diseases ; 0.516 0.828
Drug-Induced Liver Disease Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
Male sterility Male Urogenital Diseases ; 0.516 0.828
Acute Coronary Syndrome Cardiovascular Diseases ; 0.516 0.828
Mammary Carcinoma, Animal Neoplasms ; Animal Diseases ; 0.516 0.828
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.516 0.828
Hepatitis, Drug-Induced Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.516 0.828
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.516 0.828
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.516 0.828
Drug-Induced Acute Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
Chemical and Drug Induced Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
Chemically-Induced Liver Toxicity Digestive System Diseases ; Chemically-Induced Disorders ; 0.516 0.828
NO RESULT FOUND
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