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

Summary

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

Location:: 14q32.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94376747..94390635, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88606265..88620155, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (94843084..94856972, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.
Title: Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.
Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children.
Title: Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children.
Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid receptor-dependent genes in macrophages reveals a novel host defense function of AAT.
Title: Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid receptor-dependent genes in macrophages reveals a novel host defense function of AAT.
Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Title: Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Alpha-1 deficiency in severe asthma patients.
Title: Alpha-1 deficiency in severe asthma patients.
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.
Alpha-1 antitrypsin deficiency.
Title: Alpha-1 antitrypsin deficiency.
Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
Title: Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (507)

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 EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:454785 (e-PCR)
- UniSTS:157447

PMC102814P1 (e-PCR)
- UniSTS:270095

RH18081 (e-PCR)
- UniSTS:52751

PMC102814P2 (e-PCR)
- UniSTS:270096

GDB:177505 (e-PCR)
- UniSTS:154901

GDB:177506 (e-PCR)
- UniSTS:154902

GDB:177563 (e-PCR)
- UniSTS:154930

D8S2279 (e-PCR)
- UniSTS:473907

G60004 (e-PCR)
- UniSTS:137272

GDB:185734 (e-PCR)
- UniSTS:155459

RH1623 (e-PCR)
- UniSTS:89675

RH1712 (e-PCR)
- UniSTS:89676

RH1620 (e-PCR)
- UniSTS:8283

D14S1217 (e-PCR)
- UniSTS:64867

hsa1attr (e-PCR)
- UniSTS:14465

GDB:181554 (e-PCR)
- UniSTS:155280

GDB:181604 (e-PCR)
- UniSTS:155311

D16S2648 (e-PCR)
- UniSTS:152255

GDB:177077 (e-PCR)
- UniSTS:154827

RH68269 (e-PCR)
- UniSTS:13267

SHGC-32639 (e-PCR)
- UniSTS:69097

SGC32646 (e-PCR)
- UniSTS:69609

WIAF-2218 (e-PCR)
- UniSTS:76529

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
involved_in negative regulation of peptidase activity	IEA Inferred from Electronic Annotation 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 more info	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 more info	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 more info	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

NG_008290.1 RefSeqGene

Range

7091..18946

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_575

mRNA and Protein(s)

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, ...
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, ...
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, ...
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, ...
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, ...
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, ...
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, ...
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, ...
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, ...
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, ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

94376747..94390635 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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, ...
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
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

NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1493319..1507207 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A024R6N5
XM_054328986.1 → XP_054184961.1 alpha-1-antitrypsin isoform X1

UniProtKB/TrEMBL

A0A024R6N5

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

88606265..88620155 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A384MDQ7
XM_054376221.1 → XP_054232196.1 alpha-1-antitrypsin isoform X1

UniProtKB/TrEMBL

A0A384MDQ7
XM_054376220.1 → XP_054232195.1 alpha-1-antitrypsin isoform X1

UniProtKB/TrEMBL

A0A384MDQ7