Serpina1b
Gene Detail

Symbol Name ID

Serpina1b serine (or cysteine) preptidase inhibitor, clade A, member 1B MGI:891970

Synonyms

D12Ucla2, PI2, Spi1-2

Feature Type

protein coding gene

Genetic Map

Chromosome 12

52.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr12:103728156-103738158 bp, - strand From VEGA annotation of GRCm38   10003 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20103  Vertebrate Homology Class
1 human; 5 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 5 chicken; 2 zebrafish

Protein SuperFamily: serpin
Gene Tree: Serpina1b

Human homologs

Human Homolog		SERPINA1, serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
NCBI Gene ID		5265
neXtProt AC		NX_P01009
Human Synonyms		A1A, A1AT, AAT, alpha1AT, PI, PI1, PRO2275
Human Chr (Location)		14q32.1; chr14:94843084-94857029 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SERPINA1

Alleles and phenotypes

All alleles(1) : Targeted(1)
 

Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity.

 

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	acute-phase response, in utero embryonic development, ...
Component	extracellular region, extracellular space
Function	endopeptidase inhibitor activity, peptidase inhibitor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (48)    Tissues (8)    Images (23)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	48

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) Genomic(2) cDNA(8) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000035410 (Evidence)
Ensembl Gene Model	ENSMUSG00000071178 (Evidence)
Entrez Gene	20701 (Evidence)
Consensus CDS Project	CCDS26138.1
International Mouse Knockout Project Status	Serpina1b

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035410	VEGA Gene Model | MGI Sequence Detail	10003	C57BL/6J
transcript	OTTMUST00000090560	VEGA | MGI Sequence Detail	1394	Not Applicable
polypeptide	OTTMUSP00000049718	VEGA | MGI Sequence Detail	413	Not Applicable

All sequences(27) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(81 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR023795	Protease inhibitor I4, serpin, conserved site
InterPro	IPR023796	Serpin domain
InterPro	IPR000215	Serpin family
Protein Ontology	PR:000015928	alpha-1-antitrypsin 1-2

References

(Earliest) J:10300 Sifers RN, et al., Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin. Genomics. 1990 Jan;6(1):100-4
(Latest) J:178622 McNab GL, et al., A novel model and molecular therapy for Z alpha-1 antitrypsin deficiency. Mamm Genome. 2011 Nov 11;
All references(31)

Other accession IDs

MGD-MRK-3362, MGI:89582