Itih4 inter alpha-trypsin inhibitor, heavy chain 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itih4provided by MGI
Official Full Name: inter alpha-trypsin inhibitor, heavy chain 4provided by MGI
Primary source: MGI:MGI:109536
See related: Ensembl:ENSMUSG00000021922 AllianceGenome:MGI:109536
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Itih-4; PK-120; ITI-HC4
Summary: This gene encodes a member of the inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors with diverse functions as anti-apoptotic and matrix stabilizing molecules during development. This gene is predominantly expressed in the liver and the encoded protein was found to be a plasma kallikrein-sensitive glycoprotein. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
Expression: Biased expression in liver adult (RPKM 412.1), liver E18 (RPKM 232.0) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.09 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (30608433..30623943)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (30886476..30901986)

Chromosome 14 - NC_000080.7 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?

Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
Title: Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
Role of inter-alpha-trypsin inhibitor heavy chain 4 and its citrullinated form in experimental arthritis murine models.
Title: Role of inter-alpha-trypsin inhibitor heavy chain 4 and its citrullinated form in experimental arthritis murine models.
Acute Anti-Inflammatory Markers ITIH4 and AHSG in Mice Brain of a Novel Alzheimer's Disease Model.
Title: Acute Anti-Inflammatory Markers ITIH4 and AHSG in Mice Brain of a Novel Alzheimer's Disease Model.
Tumor-free mice and mice with B16 melanoma have differential proteolytic fragments of serum ITIH4.
Title: Conformational changes in inter-α-trypsin inhibitor heavy chain 4 activate its tumor-specific activity in mice with B16 melanoma.
role in liver development and regeneration
Title: Itih-4, a serine protease inhibitor regulated in interleukin-6-dependent liver formation: role in liver development and regeneration.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Itih4 (e-PCR), detects polymorphism
- UniSTS:265229

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables hyaluronic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inter alpha-trypsin inhibitor, heavy chain 4

Names: ITI heavy chain H4; inter-alpha-inhibitor heavy chain 4

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_001159299.2 → NP_001152771.1 inter alpha-trypsin inhibitor, heavy chain 4 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This difference results in a protein (isoform 2) that is 1 amino acid shorter than isoform 1.

Source sequence(s)

AK050270, BB809402, BY788238

Consensus CDS

CCDS49433.1

UniProtKB/TrEMBL

E9PVD2

Related

ENSMUSP00000077580.6, ENSMUST00000078490.14

Conserved Domains (3) summary

smart00609
Location:19 → 148

VIT; Vault protein Inter-alpha-Trypsin domain

cd01461
Location:271 → 452

vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

TIGR03788
Location:40 → 592

marine_srt_targ; marine proteobacterial sortase target protein
NM_001289632.1 → NP_001276561.1 inter alpha-trypsin inhibitor, heavy chain 4 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. This difference results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AK050270, BB809402, BY788238

Consensus CDS

CCDS70558.1

UniProtKB/TrEMBL

E9Q5L2

Related

ENSMUSP00000125920.2, ENSMUST00000168782.4

Conserved Domains (3) summary

smart00609
Location:19 → 148

VIT; Vault protein Inter-alpha-Trypsin domain

cd01461
Location:271 → 452

vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

TIGR03788
Location:40 → 592

marine_srt_targ; marine proteobacterial sortase target protein
NM_001289633.1 → NP_001276562.1 inter alpha-trypsin inhibitor, heavy chain 4 isoform 4 precursor

See identical proteins and their annotated locations for NP_001276562.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site and lacks an in-frame exon in the 3' coding region, compared to variant 1. This difference results in a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AK004893, BB809402, BY788238

Consensus CDS

CCDS79286.1

UniProtKB/TrEMBL

A0A2K6EDJ7

Related

ENSMUSP00000006703.8, ENSMUST00000006703.15

Conserved Domains (3) summary

smart00609
Location:19 → 148

VIT; Vault protein Inter-alpha-Trypsin domain

cd01461
Location:271 → 452

vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

TIGR03788
Location:40 → 592

marine_srt_targ; marine proteobacterial sortase target protein
NM_018746.4 → NP_061216.2 inter alpha-trypsin inhibitor, heavy chain 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_061216.2

Status: REVIEWED

Description

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

Source sequence(s)

AK050270, BB809402, BY788238

Consensus CDS

CCDS26901.1

UniProtKB/Swiss-Prot

A6X935, O54882, Q505P8, Q8C7G9, Q8C7K5, Q91W60, Q9DBK8

Related

ENSMUSP00000112798.4, ENSMUST00000120269.11

Conserved Domains (3) summary

smart00609
Location:19 → 148

VIT; Vault protein Inter-alpha-Trypsin domain

cd01461
Location:271 → 452

vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...

TIGR03788
Location:40 → 592

marine_srt_targ; marine proteobacterial sortase target protein