U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 3700, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:6169
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ITIH4 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52812962..52830672, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52845872..52863582, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52846978..52864688, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:52812248-52813447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19948 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52828410-52829299 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 3 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 ITIH4 antisense RNA 1 Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52873819-52874320 Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52878501-52879001 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

    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
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MUSTN1

    Clone Names

    • DKFZp686G21125

    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)

    NEW Try the new Transcript table

    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_001166449.2NP_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
      Consensus CDS
      CCDS54596.1
      UniProtKB/TrEMBL
      B7Z544
      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
      B7Z545, E9PGN5, Q14624, Q15135, Q9P190, Q9UQ54
      UniProtKB/TrEMBL
      B2RMS9
      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: GCF_000001405.40-RS_2023_10

    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
      52812962..52830672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52845872..52863582 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)