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Gene: SERPINA1 (serpin family A member 1) Homo sapiens
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Symbol: SERPINA1
Name: serpin family A member 1
Description: Exhibits identical protein binding activity; protease binding activity; and serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Localizes to Golgi apparatus; endoplasmic reticulum; and extracellular space. Implicated in several diseases, including alpha 1-antitrypsin deficiency; chronic obstructive pulmonary disease (multiple); human immunodeficiency virus infectious disease; inflammatory bowel disease (multiple); and liver disease (multiple). Biomarker of acute pancreatitis; artery disease (multiple); colorectal cancer; osteoarthritis; and pancreatic cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A1A; A1AT; AAT; alpha-1 antitrypsin; alpha-1 protease inhibitor; alpha-1-antiproteinase; alpha-1-antitrypsin; alpha-1-antitrypsin null; alpha-1-antitrypsin short transcript variant 1C4; alpha-1-antitrypsin short transcript variant 1C5; alpha1AT; MGC23330; MGC9222; nNIF; PI; PI1; PRO2275; protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin; serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 1; serine (or cysteine) proteinase inhibitor, clade A, member 1; serpin A1; serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1; serpin peptidase inhibitor clade A member 1; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Orthologs:
Rattus norvegicus (Norway rat) : Serpina1 (serpin family A member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102021597 (alpha-1-antiproteinase S-like)
Pan paniscus (bonobo/pygmy chimpanzee) : SERPINA1 (serpin family A member 1)
Canis lupus familiaris (dog) : SERPINA1 (serpin family A member 1)
Sus scrofa (pig) : SERPINA1 (serpin family A member 1)
Chlorocebus sabaeus (African green monkey) : SERPINA1 (serpin family A member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1494,376,747 - 94,390,693 (-)EnsemblGRCh38hg38GRCh38
GRCh381494,376,747 - 94,390,654 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371494,843,084 - 94,857,029 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,914,451 - 93,926,782 (-)NCBINCBI36hg18NCBI36
Build 341493,914,450 - 93,926,782NCBI
Celera1474,898,987 - 74,912,932 (-)NCBI
Cytogenetic Map14q32.13NCBI
HuRef1475,022,652 - 75,036,601 (-)NCBIHuRef
CHM1_11494,780,885 - 94,794,830 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SERPINA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1349357
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.