Hs00810223_cn

• Gene Symbol: ITIH1
• Assay Reference Genome Location: Chr.3:52779598 on build GRCh38
• Cytoband: 3p21.1

Target Gene Details

• Entrez Gene ID: 3697
• Gene Name: inter-alpha-trypsin inhibitor heavy chain 1
• Gene Aliases: H1P, IATIH, IGHEP1, ITI-HC1, ITIH, SHAP
• Location: Chr.3:52777586-52792068 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITIH1	NM_001166434.2			NP_001159906.1
	NM_002215.3			NP_002206.2
	AK292750.1
	AK298398.1
	AK298423.1
	AK298455.1
	AK314198.1
	BC069464.1			AAH69464.1
	X16260.1			CAA34346.1
	X63652.1			CAA45188.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv508928	Chr.3:52769883 - 52888575 on Build GRCh38	Insertion	NEK4 ITIH4 MIR8064 TMEM110 TMEM110-MUSTN1 ITIH4-AS1 MUSTN1 ITIH1 ITIH3
nsv1010761	Chr.3:52770531 - 52817242 on Build GRCh38	Gain	NEK4 ITIH4 ITIH1 ITIH3
esv2762328	Chr.3:52740868 - 52968134 on Build GRCh38	Loss	NEK4 ITIH4 MIR8064 TMEM110 TMEM110-MUSTN1 ITIH4-AS1 SFMBT1 MUSTN1 ITIH1 ITIH3
nsv834698	Chr.3:52715967 - 52894203 on Build GRCh38	Gain	NEK4 ITIH4 MIR8064 TMEM110 TMEM110-MUSTN1 ITIH4-AS1 MUSTN1 ITIH1 ITIH3

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

negative regulation of endopeptidase activity
hyaluronan metabolic process

Function(s)

serine-type endopeptidase inhibitor activity
calcium ion binding