Format

Send to:

Choose Destination

ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 [ Homo sapiens (human) ]

Gene ID: 3700, updated on 1-Jun-2020

Summary

Official Symbol
ITIH4provided by HGNC
Official Full Name
inter-alpha-trypsin inhibitor heavy chain 4provided by HGNC
Primary source
HGNC:HGNC:6169
See related
Ensembl:ENSG00000055955 MIM:600564
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
H4P; IHRP; GP120; PK120; ITIHL1; PK-120; ITI-HC4
Summary
The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Restricted expression toward liver (RPKM 556.7) See more
Orthologs

Genomic context

See ITIH4 in Genome Data Viewer
Location:
3p21.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52812962..52830701, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52847006..52864717, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene inter-alpha-trypsin inhibitor heavy chain 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 3 Neighboring gene ITIH4 antisense RNA 1 Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene STIM activating enhancer Neighboring gene microRNA 8064

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

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MUSTN1

Homology

Clone Names

  • DKFZp686G21125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acute-phase response IEP
Inferred from Expression Pattern
more info
PubMed 
hyaluronan metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
response to cytokine IEP
Inferred from Expression Pattern
more info
PubMed 

General protein information

Preferred Names
inter-alpha-trypsin inhibitor heavy chain H4
Names
ITI heavy chain H4
inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)
inter-alpha-inhibitor heavy chain 4
inter-alpha-trypsin inhibitor family heavy chain-related protein
inter-alpha-trypsin inhibitor heavy chain family member 4
inter-alpha-trypsin inhibitor, heavy chain-like, 1
plasma kallikrein-sensitive glycoprotein 120

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_016006.2 RefSeqGene

    Range
    5030..22740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166449.1NP_001159921.1  inter-alpha-trypsin inhibitor heavy chain H4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC006254, AK298412, AW291001, BC136392, DC412911
    Consensus CDS
    CCDS54596.1
    UniProtKB/Swiss-Prot
    Q14624
    UniProtKB/TrEMBL
    B7ZKJ8
    Related
    ENSP00000384425.1, ENST00000406595.5
    Conserved Domains (5) summary
    smart00609
    Location:21148
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:271452
    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:40592
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam06668
    Location:736898
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    cl17185
    Location:703730
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
  2. NM_002218.5NP_002209.2  inter-alpha-trypsin inhibitor heavy chain H4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002209.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006254, AW291001, BC136392, BC136393
    Consensus CDS
    CCDS2865.1
    UniProtKB/Swiss-Prot
    Q14624
    UniProtKB/TrEMBL
    B2RMS9, B7ZKJ8
    Related
    ENSP00000266041.4, ENST00000266041.9
    Conserved Domains (5) summary
    smart00609
    Location:21148
    VIT; Vault protein Inter-alpha-Trypsin domain
    cd01461
    Location:271452
    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:40626
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam06668
    Location:766928
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    cl17185
    Location:733760
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    52812962..52830701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center