SERPINA1 (GeneID: 5265) | Homo sapiens
Description: serpin family A member 1 [Source:HGNC Symbol;Acc:HGNC:8941]
Synonyms: PRO2275, alpha1AT, A1A, PI1, AAT, PI, A1AT
Other ID(s): ENSG00000277377, ENSG00000197249, HGNC:8941
Protein Accession Numbers: ENST00000404814, ENST00000554720, NP_001121172, ENST00000449399, NP_000286, NP_001121177, ENST00000393087, ENST00000440909, ENST00000556955, NP_001121174, ENST00000402629, ENST00000553327, NP_001002236, NP_001121179, ENST00000448921.1, ENST00000557492, NP_001121176, ENST00000355814, ENST00000437397, ENST00000556091, NP_001121173, ENST00000393088, ENST00000489769, NP_001002235, NP_001121178, ENST00000448921, ENST00000557118, NP_001121175
Statistics: ClinVar(2202) gnomAD(3297) COSMIC(1743) PTM(20)
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.
ENST00000355814 You are here now! ENST00000393087 You are here now! ENST00000393088 You are here now! ENST00000402629 ENST00000404814 You are here now! ENST00000437397 You are here now! ENST00000440909 You are here now! ENST00000448921 You are here now! ENST00000449399 You are here now! ENST00000489769 ENST00000553327 ENST00000554720 ENST00000556091 ENST00000556955 ENST00000557118 ENST00000557492 NP_000286 You are here now! NP_001002235 You are here now! NP_001002236 You are here now! NP_001121172 You are here now! NP_001121173 You are here now! NP_001121174 You are here now! NP_001121175 You are here now!


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
PF00079 Serpin Serpin (serine protease inhibitor) 52-415 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 ; 0.453 0.793
Anxiety Disorders Mental Disorders ; 0.453 0.793
Arteriosclerosis Cardiovascular Diseases ; 0.453 0.793
Asbestosis Respiratory Tract Diseases ; Occupational Diseases ; 0.453 0.793
Bipolar Disorder Mental Disorders ; 0.453 0.793
Depression, Bipolar Mental Disorders ; 0.453 0.793
Bronchiectasis Respiratory Tract Diseases ; 0.453 0.793
Cholestasis Digestive System Diseases ; 0.453 0.793
Drug toxicity Chemically-Induced Disorders ; 0.453 0.793
Ehlers-Danlos Syndrome Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.453 0.793
Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms ; 0.453 0.793
Hemorrhage Pathological Conditions, Signs and Symptoms ; 0.453 0.793
HIV Infections Virus Diseases ; Immune System Diseases ; 0.453 0.793
Hypoglycemia Nutritional and Metabolic Diseases ; 0.453 0.793
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.453 0.793
Liver Cirrhosis Digestive System Diseases ; 0.453 0.793
Liver diseases Digestive System Diseases ; 0.453 0.793
Lung diseases Respiratory Tract Diseases ; 0.453 0.793
Chronic Obstructive Airway Disease Respiratory Tract Diseases ; 0.453 0.793
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.453 0.793
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.453 0.793
Manic Disorder Mental Disorders ; 0.453 0.793
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.453 0.793
Panniculitis, Nodular Nonsuppurative Skin and Connective Tissue Diseases ; 0.453 0.793
Pulmonary Emphysema Respiratory Tract Diseases ; 0.453 0.793
Pulmonary Fibrosis Respiratory Tract Diseases ; 0.453 0.793
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.453 0.793
Thiamine Deficiency Nutritional and Metabolic Diseases ; 0.453 0.793
Adverse reaction to drug Chemically-Induced Disorders ; 0.453 0.793
Vasculitis Cardiovascular Diseases ; 0.453 0.793
Hamman-Rich syndrome Respiratory Tract Diseases ; 0.453 0.793
Liver Dysfunction Digestive System Diseases ; 0.453 0.793
Adenocarcinoma, Basal Cell Neoplasms ; 0.453 0.793
Adenocarcinoma, Oxyphilic Neoplasms ; 0.453 0.793
Carcinoma, Cribriform Neoplasms ; 0.453 0.793
Carcinoma, Granular Cell Neoplasms ; 0.453 0.793
Adenocarcinoma, Tubular Neoplasms ; 0.453 0.793
Centriacinar Emphysema Respiratory Tract Diseases ; 0.453 0.793
alpha 1-Antitrypsin Deficiency Digestive System Diseases ; Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.453 0.793
Fibrosis, Liver Digestive System Diseases ; 0.453 0.793
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.453 0.793
Panacinar Emphysema Respiratory Tract Diseases ; 0.453 0.793
Degenerative Diseases, Central Nervous System Nervous System Diseases ; 0.453 0.793
Fasting Hypoglycemia Nutritional and Metabolic Diseases ; 0.453 0.793
Reactive hypoglycemia Nutritional and Metabolic Diseases ; 0.453 0.793
Manic Mental Disorders ; 0.453 0.793
Anxiety States, Neurotic Mental Disorders ; 0.453 0.793
Neurodegenerative Disorders Nervous System Diseases ; 0.453 0.793
Mood Disorders Mental Disorders ; 0.453 0.793
Degenerative Diseases, Spinal Cord Nervous System Diseases ; 0.453 0.793
Cholestasis in newborn N/A 0.453 0.793
Anxiety neurosis (finding) Mental Disorders ; 0.453 0.793
Chronic Airflow Obstruction Respiratory Tract Diseases ; 0.453 0.793
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.453 0.793
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.453 0.793
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.453 0.793
Focal Emphysema Respiratory Tract Diseases ; 0.453 0.793
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.453 0.793
Pulmonary Fibrosis - from Asbestos Exposure Respiratory Tract Diseases ; Occupational Diseases ; 0.453 0.793
alpha-1-Antitrypsin Deficiency, Autosomal Recessive Digestive System Diseases ; Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.453 0.793
HIV Coinfection Virus Diseases ; Immune System Diseases ; 0.453 0.793
NO RESULT FOUND
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