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Serpinc1 Gene Detail
Summary
  • Symbol
    Serpinc1
  • Name
    serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
  • Synonyms
    antithrombin, At3, At-3, ATIII
  • Feature Type
    protein coding gene
  • IDs
    MGI:88095
    NCBI Gene: 11905
  • Gene Overview
    MyGene.info: SERPINC1
  • Alliance
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:160978606-161003015 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 69.75 cM
  • Mapping Data
    35 experiments
Strain
Comparison
more
  • SNPs within 2kb
    250 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88095
protein coding gene Chr1:160978585-161005863 (.)
129S1/SvImJ MGP_129S1SvImJ_G0016645
protein coding gene Chr1:166226112-166258690 (+)
A/J MGP_AJ_G0016626
protein coding gene Chr1:159461693-159486376 (+)
AKR/J MGP_AKRJ_G0016592
protein coding gene Chr1:164329264-164356542 (+)
BALB/cJ MGP_BALBcJ_G0016587
protein coding gene Chr1:160004727-160032897 (+)
C3H/HeJ MGP_C3HHeJ_G0016411
protein coding gene Chr1:164527752-164558285 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017048
protein coding gene Chr1:171874953-171903181 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014757
protein coding gene Chr1:151579066-151606053 (+)
CAST/EiJ MGP_CASTEiJ_G0015991
protein coding gene Chr1:164136153-164164948 (+)
CBA/J MGP_CBAJ_G0016386
protein coding gene Chr1:177943459-177981045 (+)
DBA/2J MGP_DBA2J_G0016492
protein coding gene Chr1:158443530-158470495 (+)
FVB/NJ MGP_FVBNJ_G0016490
protein coding gene Chr1:156849388-156878082 (+)
LP/J MGP_LPJ_G0016563
protein coding gene Chr1:167317628-167342885 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016515
protein coding gene Chr1:185525078-185555964 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017084
protein coding gene Chr1:164147653-164176082 (+)
PWK/PhJ MGP_PWKPhJ_G0015777
protein coding gene Chr1:157589367-157624206 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015564
protein coding gene Chr1:163040731-163069640 (+)
WSB/EiJ MGP_WSBEiJ_G0016053
protein coding gene Chr1:164335922-164368301 (+)



Homology
more
  • Human Ortholog
    SERPINC1, serpin family C member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SERPINC1, serpin family C member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AT3, AT3D, ATIII, ATIII-R2, THPH7
  • Links
    NCBI Gene ID: 462
    neXtProt AC: NX_P01008
    UniProt: P01008

  • Chr Location
    1q25.1; chr1:173903804-173917378 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Serpinc1 mouse models; 1 with human SERPINC1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    11 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11905 NCBI Gene Model | MGI Sequence Detail 24410 C57BL/6J ±  kb
    transcript NM_080844 RefSeq | MGI Sequence Detail 2171 C57BL/6  
    polypeptide P32261 UniProt | EBI | MGI Sequence Detail 465 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 224
      cDNA 222
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1442, MGD-MRK-1443, MGI:2138155
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:9067 Seldin MF, et al., Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group. J Exp Med. 1988 Feb 1;167(2):688-93
    • Latest
      J:265604 Naba A, et al., The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices. Mol Cell Proteomics. 2012 Apr;11(4):M111.014647

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory