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ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 [ Homo sapiens (human) ]

Gene ID: 3699, updated on 28-Oct-2024

Summary

Official Symbol
ITIH3provided by HGNC
Official Full Name
inter-alpha-trypsin inhibitor heavy chain 3provided by HGNC
Primary source
HGNC:HGNC:6168
See related
Ensembl:ENSG00000162267 MIM:146650; AllianceGenome:HGNC:6168
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H3P; SHAP; ITI-HC3
Summary
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
Expression
Restricted expression toward liver (RPKM 228.8) See more
Orthologs
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Genomic context

See ITIH3 in Genome Data Viewer
Location:
3p21.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52794796..52808797)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52827705..52841707)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52828812..52842813)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NIMA related kinase 4 Neighboring gene AKTIP pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52804733-52805250 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:52812248-52813447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52828410-52829299 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 1 Neighboring gene uncharacterized LOC124906240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52853641-52854629 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:52858275-52858432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52861432-52862040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52862041-52862648 Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene inter-alpha-trypsin inhibitor heavy chain 4 Neighboring gene ITIH4 antisense RNA 1 Neighboring gene musculoskeletal, embryonic nuclear protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
inter-alpha-trypsin inhibitor heavy chain H3
Names
ITI heavy chain H3
inter-alpha (globulin) inhibitor H3
inter-alpha (globulin) inhibitor, H3 polypeptide
inter-alpha-inhibitor heavy chain 3
pre-alpha (globulin) inhibitor, H3 polypeptide
serum-derived hyaluronan-associated protein

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)

  1. NM_001392019.1NP_001378948.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Consensus CDS
    CCDS93288.1
    UniProtKB/TrEMBL
    A0A994J439
    Related
    ENSP00000515492.1, ENST00000703834.1
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:721908
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  2. NM_001392020.1NP_001378949.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:718905
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  3. NM_001392021.1NP_001378950.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:684879
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  4. NM_001392022.1NP_001378951.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:681868
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  5. NM_001392023.1NP_001378952.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:34151
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:274455
    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 ...
    pfam06668
    Location:677864
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  6. NM_001392024.1NP_001378953.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:673860
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  7. NM_001392025.1NP_001378954.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:670857
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  8. NM_001392026.1NP_001378955.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    UniProtKB/TrEMBL
    B4DPQ4
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281461
    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 ...
    pfam06668
    Location:622809
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  9. NM_001392027.1NP_001378956.1  inter-alpha-trypsin inhibitor heavy chain H3 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Consensus CDS
    CCDS93287.1
    UniProtKB/TrEMBL
    B4DPQ4, E7ET33
    Related
    ENSP00000413922.2, ENST00000416872.6
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:530679
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  10. NM_002217.4NP_002208.3  inter-alpha-trypsin inhibitor heavy chain H3 isoform 4 preproprotein

    See identical proteins and their annotated locations for NP_002208.3

    Status: REVIEWED

    Source sequence(s)
    AC006254
    Consensus CDS
    CCDS46845.1
    UniProtKB/Swiss-Prot
    Q06033, Q3B7H5, Q53F06, Q6LAM2, Q99085
    Related
    ENSP00000415769.2, ENST00000449956.3
    Conserved Domains (3) summary
    smart00609
    Location:29158
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:281462
    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 ...
    pfam06668
    Location:684871
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    52794796..52808797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    52827705..52841707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)