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

Gene ID: 3700, updated on 7-Aug-2014
Official Symbol
ITIH4provided by HGNC
Official Full Name
inter-alpha-trypsin inhibitor heavy chain family, member 4provided by HGNC
Primary source
HGNC:6169
Locus tag
PRO1851
See related
Ensembl:ENSG00000055955; HPRD:02781; MIM:600564; Vega:OTTHUMG00000159023
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]
See ITIH4 in Epigenomics, MapViewer
Location:
3p21.1
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (52812990..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 TMEM110-MUSTN1 readthrough Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene transmembrane protein 110 Neighboring gene microRNA 8064

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial hypercholesterolemia
MedGen: C0020445 OMIM: 143890 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
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
Products Interactant Other Gene Complex Source Pubs Description

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
 
negative regulation of endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
response to cytokine IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
inter-alpha-trypsin inhibitor heavy chain H4
Names
inter-alpha-trypsin inhibitor heavy chain H4
ITI heavy chain H4
inter-alpha-inhibitor heavy chain 4
plasma kallikrein-sensitive glycoprotein 120
inter-alpha-trypsin inhibitor, heavy chain-like, 1
inter-alpha-trypsin inhibitor family heavy chain-related protein
inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)

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_016006.1 

    Range
    5001..22712
    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/TrEMBL
    B7ZKJ8
    UniProtKB/Swiss-Prot
    Q14624
    Related
    ENSP00000384425, OTTHUMP00000197121, ENST00000406595, OTTHUMT00000317719
    Conserved Domains (5) summary
    pfam06668
    Location:734900
    Blast Score: 557
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    smart00609
    Location:21148
    Blast Score: 566
    VIT; Vault protein Inter-alpha-Trypsin domain
    TIGR03788
    Location:40592
    Blast Score: 463
    marine_srt_targ; marine proteobacterial sortase target protein
    cd01461
    Location:271452
    Blast Score: 647
    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 ...
    cl17496
    Location:703730
    Blast Score: 84
    Acetyltransf_5; Acetyltransferase (GNAT) domain
  2. NM_002218.4NP_002209.2  inter-alpha-trypsin inhibitor heavy chain H4 isoform 1 precursor

    See proteins identical to NP_002209.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW291001, BC136392, BC136393, DC412911
    Consensus CDS
    CCDS2865.1
    UniProtKB/TrEMBL
    B2RMS9
    UniProtKB/TrEMBL
    B7ZKJ8
    UniProtKB/Swiss-Prot
    Q14624
    Related
    ENSP00000266041, OTTHUMP00000197120, ENST00000266041, OTTHUMT00000317715
    Conserved Domains (5) summary
    pfam06668
    Location:764930
    Blast Score: 556
    ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
    smart00609
    Location:21148
    Blast Score: 566
    VIT; Vault protein Inter-alpha-Trypsin domain
    TIGR03788
    Location:40626
    Blast Score: 472
    marine_srt_targ; marine proteobacterial sortase target protein
    cd01461
    Location:271452
    Blast Score: 648
    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 ...
    cl17496
    Location:733760
    Blast Score: 84
    Acetyltransf_5; Acetyltransferase (GNAT) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    52812990..52830701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    52908665..52926377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    52799205..52816916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)