Entrez Gene

Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)

General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information
Gene ID	5265
Name	SERPINA1
Synonymous	A1A\|A1AT\|AAT\|PI\|PI1\|PRO2275\|alpha1AT;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1;SERPINA1;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Definition	alpha-1 protease inhibitor\|alpha-1-antiproteinase\|alpha-1-antitrypsin\|alpha-1-antitrypsin null\|protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin\|serine (or cysteine) proteinase inhibitor, clade A, member 1\|serpin A1
Position	14q32.1
Gene Type	protein-coding
Gene Regulation:	ENCODE RegulomeDB Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database

Link to UCSC genome	Matched SNP location	dbSNP ID	Regulatory information
ENCODE RegulomeDB [Top]
chr14:94843084-94857030	chr14:94846316-94846316	rs11846959	Single_Nucleotides\|eQTL\|SERPINA1, Single_Nucleotides\|eQTL\|SERPINA1, Chromatin_Structure\|DNase-seq\|Hmec, Chromatin_Structure\|DNase-seq\|Osteobl, Chromatin_Structure\|FAIRE\|Nhbe, Protein_Binding\|ChIP-seq\|POLR2A, Protein_Binding\|ChIP-seq\|POLR2A
chr14:94843084-94857030	chr14:94855831-94855831	rs1122629	Single_Nucleotides\|eQTL\|SERPINA1, Motifs\|Footprinting\|, Chromatin_Structure\|DNase-seq\|8988t, Chromatin_Structure\|DNase-seq\|Gm12891, Protein_Binding\|ChIP-seq\|IKZF1

Regulation From TransFac database
Transcription Factors [Top]
alpha1-AT(h) --> Alpha-1-antitrypsin(h) (expression).
catalase(m.s.) --> Alpha-1-antitrypsin(h) (regulation of protein activity)
alpha1-AT(h) --> Alpha 1antitrypsin-isoform1(h) (expression).
alpha1-AT(h) --> Alpha 1antitrypsin-isoform2(h) (expression).
alpha1-AT(h) --> Alpha 1antitrypsin-isoform3(h) (expression).

Location (AA)	PTM type	Literature	Database
Post Transcriptional Modification [Top]
70	N-linked (GlcNAc...).		Swiss-Prot 53.0
107	N-linked (GlcNAc...).		Swiss-Prot 53.0
271	N-linked (GlcNAc...).		Swiss-Prot 53.0

Chromosome	Location	Source
Methylation Profile [Top]
chr14	Promoter: 93924404 - 93926404	GSE27584
chr14	Promoter: 93926282 - 93928282	GSE27584
chr14	Promoter: 93926282 - 93928282	GSE27584

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