Human Gene ITIH1 (ENST00000273283.7_4) from GENCODE V47lift37
  Description: inter-alpha-trypsin inhibitor heavy chain 1, transcript variant 1 (from RefSeq NM_002215.4)
Gencode Transcript: ENST00000273283.7_4
Gencode Gene: ENSG00000055957.11_9
Transcript (Including UTRs)
   Position: hg19 chr3:52,811,615-52,826,078 Size: 14,464 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr3:52,811,632-52,825,927 Size: 14,296 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:52,811,615-52,826,078)mRNA (may differ from genome)Protein (911 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITIH1_HUMAN
DESCRIPTION: RecName: Full=Inter-alpha-trypsin inhibitor heavy chain H1; Short=ITI heavy chain H1; Short=ITI-HC1; Short=Inter-alpha-inhibitor heavy chain 1; AltName: Full=Inter-alpha-trypsin inhibitor complex component III; AltName: Full=Serum-derived hyaluronan-associated protein; Short=SHAP; Flags: Precursor;
FUNCTION: May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.
FUNCTION: Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.
SUBUNIT: I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (H1, H2 or H3) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of H1, H2 and bikunin, inter-alpha-like inhibitor (I-alpha-LI) of H2 and bikunin, and pre-alpha-inhibitor (P-alpha-I) of H3 and bikunin.
SUBCELLULAR LOCATION: Secreted.
PTM: Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage.
PTM: The S-linked glycan is composed of two 6-carbon sugars, possibly Glc or Gal.
MASS SPECTROMETRY: Mass=76258; Method=MALDI; Range=28-672; Source=PubMed:9677337;
POLYMORPHISM: There are 3 common alleles; ITIH1*1 with Glu- 585/Gln-595, ITIH1*2 with Val-585/Arg-595 and ITIH1*3 with Glu- 585/Arg-595.
SIMILARITY: Belongs to the ITIH family.
SIMILARITY: Contains 1 VIT domain.
SIMILARITY: Contains 1 VWFA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 329.01 RPKM in Liver
Total median expression: 332.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -0.3017-0.018 Picture PostScript Text
3' UTR -49.30151-0.326 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010600 - ITI_HC_C
IPR013694 - VIT
IPR002035 - VWF_A

Pfam Domains:
PF00092 - von Willebrand factor type A domain
PF06668 - Inter-alpha-trypsin inhibitor heavy chain C-terminus
PF08487 - Vault protein inter-alpha-trypsin domain
PF13519 - von Willebrand factor type A domain
PF13768 - von Willebrand factor type A domain

SCOP Domains:
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on P19827
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005509 calcium ion binding
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0030212 hyaluronan metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AK298398 - Homo sapiens cDNA FLJ56954 complete cds, highly similar to Inter-alpha-trypsin inhibitor heavy chain H1 precursor.
BC069464 - Homo sapiens inter-alpha (globulin) inhibitor H1, mRNA (cDNA clone MGC:97216 IMAGE:7262464), complete cds.
X63652 - H.sapiens mRNA for inter-alpha-trypsin inhibitor heavy chain ITIH1.
AK298423 - Homo sapiens cDNA FLJ56821 complete cds, highly similar to Inter-alpha-trypsin inhibitor heavy chain H1 precursor.
BC109115 - Homo sapiens inter-alpha (globulin) inhibitor H1, mRNA (cDNA clone IMAGE:40035490), containing frame-shift errors.
AK314198 - Homo sapiens cDNA, FLJ94924, highly similar to Homo sapiens inter-alpha (globulin) inhibitor H1 (ITIH1), mRNA.
AK292750 - Homo sapiens cDNA FLJ77949 complete cds, highly similar to H.sapiens mRNA for inter-alpha-trypsin inhibitor heavy chain ITIH1.
X16260 - Human mRNA for inter-alpha-trypsin inhibitor subunit 3.
AK298455 - Homo sapiens cDNA FLJ51523 complete cds, highly similar to Inter-alpha-trypsin inhibitor heavy chain H1 precursor.
AK303156 - Homo sapiens cDNA FLJ58380 complete cds, highly similar to Inter-alpha-trypsin inhibitor heavy chain H1 precursor.
AK303110 - Homo sapiens cDNA FLJ54395 complete cds, highly similar to Inter-alpha-trypsin inhibitor heavy chain H1 precursor.
AF116713 - Homo sapiens PRO2769 mRNA, complete cds.
M18192 - Human inter-alpha-trypsin inhibitor heavy chain mRNA, partial cds, clone lambda-HuHITI-19.
JD226469 - Sequence 207493 from Patent EP1572962.
JD389701 - Sequence 370725 from Patent EP1572962.
JD526762 - Sequence 507786 from Patent EP1572962.
JD484545 - Sequence 465569 from Patent EP1572962.
JD177943 - Sequence 158967 from Patent EP1572962.
JD067739 - Sequence 48763 from Patent EP1572962.
JD099460 - Sequence 80484 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9N5, B2RAH9, B7Z558, B7Z8C0, ENST00000273283.1, ENST00000273283.2, ENST00000273283.3, ENST00000273283.4, ENST00000273283.5, ENST00000273283.6, F5H165, F5H7Y8, IGHEP1, ITIH1_HUMAN, NM_002215, P19827, P78455, Q01746, Q562G1, uc317jbk.1, uc317jbk.2
UCSC ID: ENST00000273283.7_4
RefSeq Accession: NM_002215.4
Protein: P19827 (aka ITIH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.