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    ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 [ Homo sapiens (human) ]

    Gene ID: 80760, updated on 17-Jun-2019

    Summary

    Official Symbol
    ITIH5provided by HGNC
    Official Full Name
    inter-alpha-trypsin inhibitor heavy chain 5provided by HGNC
    Primary source
    HGNC:HGNC:21449
    See related
    Ensembl:ENSG00000123243 MIM:609783
    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
    ITI-HC5; PP14776
    Summary
    This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in fat (RPKM 49.7), placenta (RPKM 32.8) and 18 other tissues See more
    Orthologs

    Genomic context

    See ITIH5 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (7559270..7666998, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7601232..7708961, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376390 Neighboring gene uncharacterized LOC105376391 Neighboring gene Sharpr-MPRA regulatory region 2566 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 2

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10848, DKFZp686F0145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 H5
    Names
    ITI heavy chain H5
    inter-alpha (globulin) inhibitor H5
    inter-alpha-trypsin inhibitor heavy chain family member 5

    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_047199.1 RefSeqGene

      Range
      5001..112729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001851.2NP_001001851.1  inter-alpha-trypsin inhibitor heavy chain H5 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001001851.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons and has an alternate 3' exon, compared to variant 1. The encoded isoform (3) has an alternate and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AK027375, AK027831, AL355374, BC004282, DA246953
      UniProtKB/Swiss-Prot
      Q86UX2
      UniProtKB/TrEMBL
      G5E9D8, Q96JW9
      Related
      ENSP00000380332.2, ENST00000397145.6
      Conserved Domains (2) summary
      cd01461
      Location:292473
      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 ...
      pfam08487
      Location:51157
      VIT; Vault protein inter-alpha-trypsin domain
    2. NM_030569.7NP_085046.5  inter-alpha-trypsin inhibitor heavy chain H5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_085046.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL355374, AL833203, AY238437, BQ183379, DA246953, KF570249
      Consensus CDS
      CCDS31139.2
      UniProtKB/Swiss-Prot
      Q86UX2
      UniProtKB/TrEMBL
      C9J2H1
      Related
      ENSP00000380333.3, ENST00000397146.7
      Conserved Domains (3) summary
      cd01461
      Location:292473
      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:716909
      ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
      pfam08487
      Location:51157
      VIT; Vault protein inter-alpha-trypsin domain
    3. NM_032817.6NP_116206.4  inter-alpha-trypsin inhibitor heavy chain H5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons and has an alternate 5' exon, compared to variant 1. The encoded isoform (2) has an alternate and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL355374, BC004282, BQ183379, DA833541, DB079183, KF570249
      Consensus CDS
      CCDS31140.2
      UniProtKB/TrEMBL
      A0A096LP62
      Related
      ENSP00000485414.1, ENST00000613909.4
      Conserved Domains (2) summary
      cd01461
      Location:78259
      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:502695
      ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens 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_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      7559270..7666998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519713.3XP_011518015.1  inter-alpha-trypsin inhibitor heavy chain H5 isoform X1

      Conserved Domains (3) summary
      cd01461
      Location:292498
      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:741934
      ITI_HC_C; Inter-alpha-trypsin inhibitor heavy chain C-terminus
      pfam08487
      Location:51157
      VIT; Vault protein inter-alpha-trypsin domain
    2. XM_011519714.3XP_011518016.1  inter-alpha-trypsin inhibitor heavy chain H5 isoform X2

      Conserved Domains (2) summary
      cd01461
      Location:292498
      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 ...
      pfam08487
      Location:51157
      VIT; Vault protein inter-alpha-trypsin domain
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