Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpind1provided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade D, member 1provided by MGI
Primary source: MGI:MGI:96051
See related: Ensembl:ENSMUSG00000022766 AllianceGenome:MGI:96051
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: HCII; Hcf2; HC-II
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within blood coagulation and negative regulation of peptidase activity. Predicted to be active in extracellular space. Is expressed in liver. Human ortholog(s) of this gene implicated in heparin cofactor II deficiency. Orthologous to human SERPIND1 (serpin family D member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 147.0), liver E18 (RPKM 126.4) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 10.74 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (17149235..17161438)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (17331371..17343574)

Chromosome 16 - NC_000082.7 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?

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.
Loss of Heparin Cofactor is associated with insulin resistance .
Title: The Role of Heparin Cofactor Ⅱ in the Regulation of Insulin Sensitivity and Maintenance of Glucose Homeostasis in Humans and Mice.
In this study, we demonstrate a previously unknown role for HCII in host defense
Title: Proteolytic activation transforms heparin cofactor II into a host defense molecule.
HCII potentiates the activation of vascular endothelial cells and the promotion of angiogenesis in response to hindlimb ischemia via an AMPK-eNOS signaling pathway.
Title: Heparin cofactor II, a serine protease inhibitor, promotes angiogenesis via activation of the AMP-activated protein kinase-endothelial nitric-oxide synthase signaling pathway.
These results support the hypothesis that HCII interacts with dermatan sulfate in the vessel wall after disruption of the endothelium and that this interaction regulates thrombus formation in vivo.
Title: Vascular dermatan sulfate regulates the antithrombotic activity of heparin cofactor II.
HCII deficiency promotes atherogenesis and neointima formation
Title: Accelerated atherogenesis and neointima formation in heparin cofactor II deficient mice.
The reactions with thrombin or APC of recombinant alpha(1)-PI M358R variants with or without the HCII extension were characterized electrophoretically and kinetically
Title: The appended tail region of heparin cofactor II and additional reactive centre loop mutations combine to increase the reactivity and specificity of alpha1-proteinase inhibitor M358R for thrombin.
HCII mediates the antithrombotic effect of porcine skin dermatan sulfate after injury to the carotid arterial endothelium in mice.
Title: Antithrombotic activity of dermatan sulfate in heparin cofactor II-deficient mice.
In HCII(+/-) mice, prominent intimal hyperplasia with increased cellular proliferation was observed after tube cuff and wire vascular injury.
Title: Strain-dependent embryonic lethality and exaggerated vascular remodeling in heparin cofactor II-deficient mice.

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Variation

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Alleles

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

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

General gene information

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Markers

AI303446 (e-PCR)
- UniSTS:180873

AA985900 (e-PCR)
- UniSTS:180874

MHAa22f12.seq (e-PCR)
- UniSTS:125096

U07425 (e-PCR)
- UniSTS:125656

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hemostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: heparin cofactor 2

Names: heparin cofactor II; protease inhibitor leuserpin-2; serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1; serpin D1

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_001331047.1 → NP_001317976.1 heparin cofactor 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR comared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC110573, AI195091, BY770136, CJ238471

Consensus CDS

CCDS28000.1

UniProtKB/Swiss-Prot

P49182

UniProtKB/TrEMBL

Q5FW62

Related

ENSMUSP00000156303.2, ENSMUST00000231884.2

Conserved Domains (1) summary

cd02047
Location:43 → 476

HCII; Heparin cofactor II (HCII) inhibits thrombin, the final protease of the coagulation cascade. HCII is allosterically activated by binding to cell surface glycosaminoglycans (GAGs). The specificity of HCII for thrombin is conferred by a highly acidic ...
NM_008223.4 → NP_032249.3 heparin cofactor 2 precursor

See identical proteins and their annotated locations for NP_032249.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA253694, AC110573, AI195091, AI196697, AI529123, AI529613, CJ067925, CJ238471

Consensus CDS

CCDS28000.1

UniProtKB/Swiss-Prot

P49182

UniProtKB/TrEMBL

Q5FW62

Related

ENSMUSP00000023450.7, ENSMUST00000023450.15

Conserved Domains (1) summary

cd02047
Location:43 → 476

HCII; Heparin cofactor II (HCII) inhibits thrombin, the final protease of the coagulation cascade. HCII is allosterically activated by binding to cell surface glycosaminoglycans (GAGs). The specificity of HCII for thrombin is conferred by a highly acidic ...