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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITIH6 Gene

protein-coding   GIFtS: 38
GCID: GC0XM054775

Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member...

(Previous name: inter-alpha (globulin) inhibitor H5-like)
(Previous symbol: ITIH5L)
  Search for ITIH6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Inter-Alpha-Trypsin Inhibitor Heavy Chain Family, Member 61 2     UNQ63692
ITIH5L1 2 3     dJ14O9.12
Inter-Alpha Inhibitor H5-Like Protein2 3     Inter-Alpha-Trypsin Inhibitor Heavy Chain H62
Inter-Alpha-Trypsin Inhibitor Heavy Chain H5-Like Protein2 3     ITI-Like Protein2
Inter-Alpha (Globulin) Inhibitor H5-Like1     

External Ids:    HGNC: 289071   Entrez Gene: 3473652   Ensembl: ENSG000001023137   UniProtKB: Q6UXX53   

Export aliases for ITIH6 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITIH6 Gene:
The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha
trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light
chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein
interactions with the components of the extracellular matrix. (provided by RefSeq, Sep 2009)

GeneCards Summary for ITIH6 Gene: 
ITIH6 (inter-alpha-trypsin inhibitor heavy chain family, member 6) is a protein-coding gene. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ITIH5.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011630.14  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ITIH6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITIH6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITIH6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITIH6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.22-p11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.22-p11.21

ITIH6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITIH6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM054775:  view genomic region     (about GC identifiers)

Start:
54,775,332 bp from pter      End:
54,824,673 bp from pter
Size:
49,342 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ITIH6_HUMAN, Q6UXX5 (See protein sequence)
Recommended Name: Inter-alpha-trypsin inhibitor heavy chain H6 precursor  
Size: 1313 amino acids; 143187 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: A6NN03

Explore the universe of human proteins at neXtProt for ITIH6: NX_Q6UXX5

Explore proteomics data for ITIH6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UXX5

  • ITIH6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITIH6 Protein Expression
    REFSEQ proteins: NP_940912.1  
    ENSEMBL proteins: 
     ENSP00000218436  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    ITIH6 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR013694 VIT
     IPR010600 ITI_HC_C
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q6UXX5

    ProtoNet protein and cluster: Q6UXX5

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB010600 Inter-alpha-trypsin inhibitor heavy chain


    UniProtKB/Swiss-Prot: ITIH6_HUMAN, Q6UXX5
    Similarity: Belongs to the ITIH family
    Similarity: Contains 1 VIT domain
    Similarity: Contains 1 VWFA domain


    ITIH6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    ITIH6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ITIH6:
     Decreased number of cells in m  Increased G2M DNA content 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITIH6

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030212hyaluronan metabolic process IEA--

    ITIH6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITIH6

    Search CenterWatch for drugs/clinical trials and news about ITIH6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ITIH6 gene: 
    NM_198510.2  

    Unigene Cluster for ITIH6:

    Inter-alpha-trypsin inhibitor heavy chain family, member 6
    Hs.454272  [show with all ESTs]
    Unigene Representative Sequence: NM_198510
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000218436(uc004dtj.2) ENST00000498398
    miRNA
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    Additional mRNA sequence: AY358170.1 

    1 DOTS entry:

    DT.75166579 

    10 AceView cDNA sequences:

    CA413764 BQ181512 AI902890 AY358170 BQ448179 NM_198510 BQ428136 BM800708 
    AL596553 AI902889 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITIH6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ITIH6 Expression
    About this image


    See ITIH6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITIH6

    SOURCE GeneReport for Unigene cluster: Hs.454272
        SABiosciences Custom PCR Arrays for ITIH6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITIH6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ITIH6 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itih5l-ps1 , 5 inter-alpha (globulin) inhibitor H5-like, pseudogene1, 5 78.97(n)1
    71.53(a)1
      X (68.46 cM)5
    6348821  XM_003085300.11  XP_003085348.11 
     1508269725 
    chicken
    (Gallus gallus)
    Aves ITIH5L1 inter-alpha (globulin) inhibitor H5-like 55.02(n)
    44.8(a)
      430871  XM_428421.3  XP_428421.3 
    lizard
    (Anolis carolinensis)
    Reptilia ITIH66
    inter-alpha-trypsin inhibitor heavy chain family, ...
    43(a)
    1 ↔ 1
    1(205596692-205638917)
    zebrafish
    (Danio rerio)
    Actinopterygii itih61 inter-alpha-trypsin inhibitor heavy chain family, member more 52.68(n)
    45.82(a)
      565328  XM_688605.3  XP_693697.3 


    ENSEMBL Gene Tree for ITIH6 (if available)
    TreeFam Gene Tree for ITIH6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITIH6 gene
    ITIH52  ITIH12  ITIH32  ITIH22  ITIH42  
    2 SIMAP similar genes for ITIH6 using alignment to 1 protein entry:     ITIH6_HUMAN:
    ITIH3    ITIH4

    ITIH6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ITIH6
    PGOHUM00000241791


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/853 SNPs in ITIH6 are shown (see all 853)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1510705971,2
    C,Funtested154799291(+) TGGCTA/C/TCCCTG 2 K E mis11NA 3940
    rs1486809081,2
    --51876832(+) TACAAC/TAACCA 1 -- us2k10--------
    rs1911476951,2
    --51877084(+) GTCCCA/GTGGCC 1 -- us2k10--------
    rs128635591,2
    C,H--54789267(+) TCTTGT/GAACTG 1 -- ds50015Minor allele frequency- G:0.00NS EA NA 420
    rs1908249941,2
    --54789301(+) CTTTAA/TCTGTG 1 -- ds50010--------
    rs1825967721,2
    --54789416(+) TTCTAC/TATCTT 1 -- ds50010--------
    rs1873070611,2
    --54789529(+) TTGGTA/GTCTTG 1 -- ds50010--------
    rs1906495751,2
    --54789554(+) TCAGTA/GTCTCC 1 -- ds50010--------
    rs1485632011,2
    C--54789622(+) AATCTC/TTATGT 1 -- ds50010--------
    rs1829326381,2
    --54789753(+) AACCAC/TGAAGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ITIH6 (54775332 - 54824673 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ITIH6: --

    Human Gene Mutation Database (HGMD): ITIH6

    Locus Specific Mutation Databases (LSDB): ITIH6
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ITIH6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ITIH6 for disorders           About MalaCards

    ITIH6 for disorders           About GeneDecksing


    Export disorders for ITIH6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITIH6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ITIH6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 347365 HGNC: 28907 AceView: ITIH5L Ensembl:ENSG00000102313 euGenes: HUgn347365
    ECgene: ITIH6 H-InvDB: ITIH6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITIH6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ITIH6 gene:
    Search GeneIP for patents involving ITIH6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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