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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:103694415-103704448 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 52.98 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    11
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_891970
 protein coding gene Chr12:103694415-103796632 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020058
 protein coding gene Chr12:105443451-105457855 (-)
A/J MGP_AJ_G0020016
 protein coding gene Chr12:101440159-101677634 (-)
AKR/J no annotation
BALB/cJ MGP_BALBcJ_G0020002
 protein coding gene Chr12:101797286-102008926 (-)
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0018065
 protein coding gene Chr12:98377689-98389918 (-)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J MGP_DBA2J_G0019889
 protein coding gene Chr12:101079004-101098192 (-)
FVB/NJ MGP_FVBNJ_G0019874
 protein coding gene Chr12:99660147-99673353 (-)
LP/J MGP_LPJ_G0019963
 protein coding gene Chr12:105331486-105344193 (-)
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0019109
 protein coding gene Chr12:95620361-95675289 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018907
 protein coding gene Chr12:98178567-98200692 (-)
WSB/EiJ MGP_WSBEiJ_G0019405
 protein coding gene Chr12:104662483-104717077 (-)



Homology
more
  • Human Ortholog
    SERPINA1, serpin family A member 1
  • Vertebrate Orthologs
    9
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SERPINA1, serpin family A member 1
  • Synonyms
    A1A, A1AT, AAT, alpha1AT, nNIF, PI, PI1, PRO2275
  • Links
    NCBI Gene ID: 5265
    neXtProt AC: NX_P01009
    UniProt: P01009

  • Chr Location
    14q32.13; chr14:94376747-94390693 (-)  GRCh38
Human Diseases
more
  • Diseases
    9 with human SERPINA1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    23
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    754
  • Tissues
    8
  • cDNA Data
    8
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 20701 NCBI Gene Model | MGI Sequence Detail 10034 C57BL/6J ±  kb
transcript NM_009244 RefSeq | MGI Sequence Detail 1434 ZRU/MplStud  
polypeptide P22599 UniProt | EBI | MGI Sequence Detail 413 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    Genomic 2
    cDNA 9
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-3362, MGI:89582
References
more
  • Summaries
    All 39
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 7
    Phenotypes 5
  • 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:320456 Deuse T, et al., Hypoimmune induced pluripotent stem cell-derived cell therapeutics treat cardiovascular and pulmonary diseases in immunocompetent allogeneic mice. Proc Natl Acad Sci U S A. 2021 Jul 13;118(28):e2022091118
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory