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ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 [ Homo sapiens (human) ]

Gene ID: 3697, updated on 24-Nov-2020

Summary

Official Symbol
ITIH1provided by HGNC
Official Full Name
inter-alpha-trypsin inhibitor heavy chain 1provided by HGNC
Primary source
HGNC:HGNC:6166
See related
Ensembl:ENSG00000055957 MIM:147270
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
H1P; ITIH; SHAP; IATIH; IGHEP1; ITI-HC1
Summary
This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
Expression
Restricted expression toward liver (RPKM 383.5) See more
Orthologs

Genomic context

See ITIH1 in Genome Data Viewer
Location:
3p21.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52777599..52792068)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52811602..52826084)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NIMA related kinase 4 Neighboring gene adenylate kinase 3 pseudogene Neighboring gene AKT-interacting protein-like Neighboring gene inter-alpha-trypsin inhibitor heavy chain 3 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 4 Neighboring gene ITIH4 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hyaluronan metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
inter-alpha-trypsin inhibitor heavy chain H1
Names
ITI heavy chain H1
inter-alpha (globulin) inhibitor, H1 polypeptide
inter-alpha-inhibitor heavy chain 1
inter-alpha-trypsin inhibitor complex component III
serum-derived hyaluronan-associated protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016005.1 RefSeqGene

    Range
    5008..19471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166434.3NP_001159906.1  inter-alpha-trypsin inhibitor heavy chain H1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform a.
    Source sequence(s)
    AA897466, AC006254, AK292750, AK298455, DB188130, M18192
    UniProtKB/Swiss-Prot
    P19827
    Related
    ENST00000628722.2
    Conserved Domains (3) summary
    cd01461
    Location:147328
    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:564750
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    cl02699
    Location:124
    VIT; Vault protein inter-alpha-trypsin domain
  2. NM_001166435.2NP_001159907.1  inter-alpha-trypsin inhibitor heavy chain H1 isoform c

    See identical proteins and their annotated locations for NP_001159907.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform a. Both variants 3 and 4 ncode isoform c.
    Source sequence(s)
    AA897466, AC006254, AK303156
    Consensus CDS
    CCDS54595.1
    UniProtKB/Swiss-Prot
    P19827
    Related
    ENSP00000443847.1, ENST00000537050.5
    Conserved Domains (2) summary
    cd01461
    Location:1182
    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:418604
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  3. NM_001166436.2NP_001159908.1  inter-alpha-trypsin inhibitor heavy chain H1 isoform c

    See identical proteins and their annotated locations for NP_001159908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform a. Both variants 3 and 4 encode isoform c.
    Source sequence(s)
    AA897466, AC006254, AK303110
    Consensus CDS
    CCDS54595.1
    UniProtKB/TrEMBL
    B7Z8B6
    Conserved Domains (2) summary
    cd01461
    Location:1182
    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:418604
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
  4. NM_002215.4NP_002206.2  inter-alpha-trypsin inhibitor heavy chain H1 isoform a preproprotein

    See identical proteins and their annotated locations for NP_002206.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AA897466, BC069464
    Consensus CDS
    CCDS2864.1
    UniProtKB/Swiss-Prot
    P19827
    Related
    ENSP00000273283.2, ENST00000273283.7
    Conserved Domains (4) summary
    smart00609
    Location:37166
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:289470
    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:58608
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam06668
    Location:706892
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52777599..52792068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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