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Serpina1b Gene Detail
Summary
  • Symbol
    Serpina1b
  • Name
    serine (or cysteine) preptidase inhibitor, clade A, member 1B
  • Synonyms
    D12Ucla2, PI2, Spi1-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:891970
    NCBI Gene: 20701
  • Gene Overview
    MyGene.info: SERPINA1
Location & Maps
more
  • Sequence Map
    Chr12:103728156-103740515 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12360 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SERPINA1, serpin family A member 1
  • Vertebrate Orthologs
    20
  • Human Ortholog
    SERPINA1, serpin family A member 1
    Orthology source: HomoloGene
  • Synonyms
    A1A, A1AT, AAT, alpha1AT, PI, PI1, PRO2275
  • Links
    NCBI Gene ID: 5265
    neXtProt AC: NX_P01009

  • Chr Location
    14q32.1; chr14:94376747-94390692 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human SERPINA1 associations

Human Disease Mouse Models
       Alpha-1-Antitrypsin Deficiency; A1ATD   OMIM: 613490
Pulmonary Disease, Chronic Obstructive; COPD   OMIM: 606963
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    3 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    2
  • Chemically induced (other)
    1
  • Targeted
    1
  • Genomic Mutations
    1 involving Serpina1b
  • Incidental Mutations
    APF , CvDC
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035410 VEGA Gene Model | MGI Sequence Detail 12360 C57BL/6J ±  kb
transcript OTTMUST00000090560 VEGA | MGI Sequence Detail 1394 Not Applicable  
polypeptide OTTMUSP00000049718 VEGA | MGI Sequence Detail 413 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    141 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    Genomic 2
    cDNA 8
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-3362, MGI:89582
References
more
  • Summaries
    All 31
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 3
  • 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;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory