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

Gene ID: 80760, updated on 1-Aug-2020

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
109.20200522 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 Functions

What'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
    5033..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 109.20200522

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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