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SERPINA1 serpin family A member 1 [ Homo sapiens (human) ]

Gene ID: 5265, updated on 22-Apr-2024

Summary

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Official Symbol
SERPINA1provided by HGNC
Official Full Name
serpin family A member 1provided by HGNC
Primary source
HGNC:HGNC:8941
See related
Ensembl:ENSG00000197249 MIM:107400; AllianceGenome:HGNC:8941
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PI; A1A; AAT; PI1; A1AT; nNIF; PRO2275; alpha1AT
Summary
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
Expression
Biased expression in liver (RPKM 3603.5) and small intestine (RPKM 158.3) See more
Orthologs
all
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Genomic context

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Location:
14q32.13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94376747..94390635, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88606265..88620155, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94843084..94856972, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:94812301-94813500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94828015-94828515 Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:94839554-94840753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856427-94856928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856929-94857428 Neighboring gene serpin family A member 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94917415-94918091 Neighboring gene uncharacterized LOC105370635

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Increased Prevalence of Alpha-1-Antitrypsin Deficiency in Patients with Biliary Tract Cancer and Its Associated Clinicopathological Features. Cornillet M, et al. Cells, 2023 Jun 19. PMID 37371133, Free PMC Article
  2. Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network. Lopez-Campos JL, et al. Hum Genomics, 2023 Jun 5. PMID 37277845, Free PMC Article
  3. Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia. Alí-Munive A, et al. BMC Pulm Med, 2023 May 4. PMID 37143026, Free PMC Article
  4. Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease. Prakash S, et al. Hepatol Commun, 2023 Feb 1. PMID 37133851, Free PMC Article
  5. Small airways disease in patients with alpha-1 antitrypsin deficiency. Toumpanakis D, et al. Respir Med, 2023 May. PMID 36965591

See all (717) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.
    Title: Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.
  2. Alpha-1 antitrypsin deficiency.
    Title: Alpha-1 antitrypsin deficiency.
  3. Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
    Title: Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
  4. Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
    Title: Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
  5. Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
    Title: Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
  6. Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
    Title: Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
  7. Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
    Title: Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
  8. Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.
    Title: Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.
  9. Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients.
    Title: Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients.
  10. Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
    Title: Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Submit: New GeneRIF Correction See all GeneRIFs (502)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Alpha-1-antitrypsin deficiency
MedGen: C0221757 OMIM: 613490 GeneReviews: Alpha-1 Antitrypsin Deficiency
Compare labs

EBI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Serpin A1 competes with gp120-proteinase binding (in particular elastase-HIV-1 binding) and decreases the chances of HIV-1 fusion with the membrane followed by internalization PubMed
Envelope surface glycoprotein gp160, precursor env Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication PubMed
Pr55(Gag) gag Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and Gag55 processing, and is a powerful inhibitor of HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9222, MGC23330

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
  
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in COPII-coated ER to Golgi transport vesicle TAS
Traceable Author Statement
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alpha-1-antitrypsin
Names
alpha-1 antitrypsin
alpha-1 protease inhibitor
alpha-1 proteinase inhibitor
alpha-1-antiproteinase
anti-elastase
epididymis secretory sperm binding protein
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008290.1 RefSeqGene

    Range
    7091..18946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_575

mRNA and Protein(s)

  1. NM_000295.5 → NP_000286.3  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_000286.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the same protein as the other ten variants of this gene.
    Source sequence(s)
    AK026174, AL132708, DA966896
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000376802.4, ENST00000393087.9
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  2. NM_001002235.3 → NP_001002235.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001002235.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX161449, DA428299
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000390299.1, ENST00000440909.5
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  3. NM_001002236.3 → NP_001002236.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001002236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, DA428299
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000376803.4, ENST00000393088.8
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  4. NM_001127700.2 → NP_001121172.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121172.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, DA427262
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000348068.4, ENST00000355814.8
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  5. NM_001127701.2 → NP_001121173.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121173.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, DA428299, DA672472
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000416066.1, ENST00000448921.5
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  6. NM_001127702.2 → NP_001121174.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121174.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BP301274, BX247968, DA428299
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000408474.1, ENST00000437397.5
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  7. NM_001127703.2 → NP_001121175.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, CD685665, DA428299, DA433050
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  8. NM_001127704.2 → NP_001121176.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, DA428299, DA433058
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  9. NM_001127705.2 → NP_001121177.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BX247968, DA428299, DA675981
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000490054.1, ENST00000636712.1
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  10. NM_001127706.2 → NP_001121178.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BP300943, BX247968
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000416354.3, ENST00000449399.7
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  11. NM_001127707.2 → NP_001121179.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for NP_001121179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
    Source sequence(s)
    AL132708, BP296710, BX247968, DA428299
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Related
    ENSP00000385960.4, ENST00000404814.8
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    94376747..94390635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021370.2 → XP_016876859.1  alpha-1-antitrypsin isoform X1

    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    A0A0G2JRN3, E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55 → 412
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

  2. XM_047431479.1 → XP_047287435.1  alpha-1-antitrypsin isoform X1

    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    E9KL23

  3. XM_047431478.1 → XP_047287434.1  alpha-1-antitrypsin isoform X1

    UniProtKB/Swiss-Prot
    A6PX14, B2RDQ8, P01009, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
    UniProtKB/TrEMBL
    E9KL23

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1493319..1507207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328987.1 → XP_054184962.1  alpha-1-antitrypsin isoform X1

    UniProtKB/TrEMBL
    A0A024R6N5

  2. XM_054328986.1 → XP_054184961.1  alpha-1-antitrypsin isoform X1

    UniProtKB/TrEMBL
    A0A024R6N5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    88606265..88620155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376222.1 → XP_054232197.1  alpha-1-antitrypsin isoform X1

    UniProtKB/TrEMBL
    A0A384MDQ7

  2. XM_054376221.1 → XP_054232196.1  alpha-1-antitrypsin isoform X1

    UniProtKB/TrEMBL
    A0A384MDQ7

  3. XM_054376220.1 → XP_054232195.1  alpha-1-antitrypsin isoform X1

    UniProtKB/TrEMBL
    A0A384MDQ7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01009.3 GenPept UniProtKB/Swiss-Prot:P01009

Gene LinkOut

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