Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpinc1provided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1provided by MGI
Primary source: MGI:MGI:88095
See related: Ensembl:ENSMUSG00000026715 AllianceGenome:MGI:88095
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: At3; At-3; ATIII
Summary: Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and response to nutrient. Predicted to act upstream of or within blood coagulation and negative regulation of peptidase activity. Located in collagen-containing extracellular matrix. Is expressed in embryo; liver; neural tube; and notochord. Used to study antithrombin III deficiency. Human ortholog(s) of this gene implicated in antithrombin III deficiency; disseminated intravascular coagulation; intermediate coronary syndrome; thrombosis; and toxic shock syndrome. Orthologous to human SERPINC1 (serpin family C member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 699.7), liver E18 (RPKM 396.3) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.1; 1 69.75 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (160806153..160830113)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (160978583..161002543)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumor size and the number of diethylnitrosamine and carbon tetrachloride-induced liver tumors significantly increased in antithrombin (AT)-insufficient mice compared with the wild-type mice. AT insufficiency led to increased susceptibility to liver tumorigenesis by increasing hepatic inflammation.
Title: Antithrombin Insufficiency Promotes Susceptibility to Liver Tumorigenesis.
Trancriptomic analysis shows that expression of the antithrombins serpin C1 and D1 is significantly reduced in Schwann cell-deficient mice. In the absence of peripheral neuromuscular activity, neurodegeneration is completely blocked, and expression of prothrombin in muscle is markedly reduced.
Title: Glial cells maintain synapses by inhibiting an activity-dependent retrograde protease signal.
RNA interference of Serpinc1 and/or Proc allows for evaluation of the function of these genes in vivo and provides a novel, controlled mouse model for spontaneous venous thrombosis.
Title: Acute and severe coagulopathy in adult mice following silencing of hepatic antithrombin and protein C production.
Mice homozygous for the heparin-binding domain mutation R48C developed spontaneous, life-threatening thrombosis, occurring as early as the day of birth. Only 60% of the offspring reached weaning age, with further loss at different ages
Title: Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin.
in the heart, TF plays an important role in the thrombogenesis and it counterbalances AT-dependent anticoagulation; regulation of TF-procoagulant activity take place differently between the liver and the heart
Title: Fatal thrombosis of antithrombin-deficient mice is rescued differently in the heart and liver by intercrossing with low tissue factor mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Serpinc1 (e-PCR), detects polymorphism
- UniSTS:495916

Serpinc1 (e-PCR), detects polymorphism
- UniSTS:525942

AI114908 (e-PCR)
- UniSTS:158870

RH129407 (e-PCR)
- UniSTS:212714

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood coagulation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hemostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: antithrombin-III

Names: anti-thrombin 3; antithrombin; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1; serpin C1; serpin peptidase inhibitor, clade C, member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001379302.1 → NP_001366231.1 antithrombin-III isoform 2

Status: VALIDATED

Source sequence(s)

AC119204, AC163327

Conserved Domains (1) summary

cl38926
Location:1 → 343

serpin; SERine Proteinase INhibitors (serpin) family
NM_001419956.1 → NP_001406885.1 antithrombin-III isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC119204, AC163327

UniProtKB/Swiss-Prot

P32261

UniProtKB/TrEMBL

Q543J5
NM_001419957.1 → NP_001406886.1 antithrombin-III isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC119204, AC163327
NM_001419958.1 → NP_001406887.1 antithrombin-III isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC119204, AC163327
NM_080844.5 → NP_543120.1 antithrombin-III isoform 1 precursor

See identical proteins and their annotated locations for NP_543120.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC119204, AC163327

Consensus CDS

CCDS15411.1

UniProtKB/Swiss-Prot

P32261

UniProtKB/TrEMBL

Q543J5

Related

ENSMUSP00000068971.6, ENSMUST00000064725.11

Conserved Domains (1) summary

cd02045
Location:71 → 464

serpinC1_AT3; serpin family C member 1, antithrombin III