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EIF3H Gene

protein-coding   GIFtS: 60
GCID: GC08M117654

Eukaryotic Translation Initiation Factor 3, Subunit H

(Previous names: eukaryotic translation initiation factor 3, subunit 3 gamma,...)
(Previous symbol: EIF3S3)
  See EIF3H-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eukaryotic Translation Initiation Factor 3, Subunit H1 2     eIF3-gamma2
EIF3S31 2 3 5     eIF3-p402
Eukaryotic Translation Initiation Factor 3, Subunit 3 Gamma, 40kDa1 2     Eukaryotic Translation Initiation Factor 3 Subunit H2
Eukaryotic Translation Initiation Factor 3 Subunit 32 3     Eukaryotic Translation Initiation Factor 3, Subunit 2 (Beta, 36kD)2
eIF-3-gamma2 3     Eukaryotic Translation Initiation Factor 3, Subunit 3 (Gamma, 40kD)2
EIF3 P40 Subunit2 3     eIF3h3

External Ids:    HGNC: 32731   Entrez Gene: 86672   Ensembl: ENSG000001476777   OMIM: 6039125   UniProtKB: O153723   

Export aliases for EIF3H gene to outside databases

Previous GC identifers: GC08M117727 GC08M112983


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EIF3H Gene:
EIF3H (eukaryotic translation initiation factor 3, subunit H) is a protein-coding gene. Diseases associated with EIF3H include trichorhinophalangeal syndrome type i. GO annotations related to this gene include translation initiation factor activity.

UniProtKB/Swiss-Prot: EIF3H_HUMAN, O15372
Function: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for
several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and
facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation
complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG
recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal
complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation

Gene Wiki entry for EIF3H Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the EIF3H gene promoter:
         HFH-3   Max1   Sox5   Sp1   MyoD   C/EBPalpha   MEF-2A   FOXI1   aMEF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF3H promoter sequence
   Search Chromatin IP Primers for EIF3H

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EIF3H


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

Entrez Gene cytogenetic band: 8q24.11   Ensembl cytogenetic band:  8q24.11   HGNC cytogenetic band: 8q24.11

EIF3H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF3H gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M117654:  view genomic region     (about GC identifiers)

Start:
117,654,369 bp from pter      End:
117,779,164 bp from pter
Size:
124,796 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EIF3H_HUMAN, O15372 (See protein sequence)
Recommended Name: Eukaryotic translation initiation factor 3 subunit H  
Size: 352 amino acids; 39930 Da
Subunit: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13
subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3
complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is
composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of
module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile
subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of
nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and
RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with RNF139;
the interaction leads to protein translation inhibitions in a ubiquitination-dependent manner
Mass spectrometry: Mass=40010.4; Method=Unknown; Range=1-352; Source=PubMed:17322308;
Mass spectrometry: Mass=39842.6; Mass_error=0.4; Method=MALDI; Range=1-352; Source=PubMed:18599441;

Explore the universe of human proteins at neXtProt for EIF3H: NX_O15372

Explore proteomics data for EIF3H at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys24, Lys227, Lys259, Lys303, Lys306, Lys331, Lys340
  • Modification sites at PhosphoSitePlus

  • See EIF3H Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003747.1  
    ENSEMBL proteins: 
     ENSP00000429931   ENSP00000276682   ENSP00000428195   ENSP00000428669   ENSP00000429884  
     ENSP00000428885   ENSP00000430926   ENSP00000427908  
    Reactome Protein details: O15372

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000555 JAB_MPN_dom
     IPR027524 eIF3h

    Graphical View of Domain Structure for InterPro Entry O15372

    ProtoNet protein and cluster: O15372

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: EIF3H_HUMAN, O15372
    Similarity: Belongs to the eIF-3 subunit H family
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    Find genes that share domains with EIF3H           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EIF3H_HUMAN, O15372
    Function: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for
    several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and
    facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation
    complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG
    recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal
    complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003743contributes to translation initiation factor activity IDA17581632
    GO:0005515protein binding IPI12812986
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with EIF3H           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for EIF3H:
     Cell division defect  Decreased p24 protein expressi  Increased cell death in HCT116  Nuclear pre-40S maturation def 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Eif3h):
     mortality/aging  other  reproductive system 

    Find genes that share phenotypes with EIF3H           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EIF3H

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EIF3H_HUMAN, O15372: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005852eukaryotic translation initiation factor 3 complex IDA17322308
    GO:0016282eukaryotic 43S preinitiation complex IEA--
    GO:0033290eukaryotic 48S preinitiation complex IEA--

    Find genes that share ontologies with EIF3H           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for EIF3H About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    L13a-mediated translational silencing of Ceruloplasmin expression0.94
    Cap-dependent Translation Initiation0.89
    Formation of a pool of free 40S subunits0.94
    Eukaryotic Translation Initiation0.89
    GTP hydrolysis and joining of the 60S ribosomal subunit0.93
    Translation0.82
    2Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
    Translation initiation complex formation0.91
    Formation of the ternary complex, and subsequently, the 43S complex0.91
    Ribosomal scanning and start codon recognition0.91
    Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.90
    3Gene Expression
    Gene Expression0.40
    4Influenza A
    Measles0.34
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with EIF3H           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EIF3H
        eIF2 Pathway
    mTOR Pathway

    1 Cell Signaling Technology (CST) Pathway for EIF3H
        Translational Control

    1 BioSystems Pathway for EIF3H
        Translation Factors


    Selected Reactome Pathways for EIF3H (see all 6)
        Formation of the ternary complex, and subsequently, the 43S complex
    L13a-mediated translational silencing of Ceruloplasmin expression
    GTP hydrolysis and joining of the 60S ribosomal subunit
    Ribosomal scanning and start codon recognition
    Formation of a pool of free 40S subunits


    2 Kegg Pathways  (Kegg details for EIF3H):
        RNA transport
    Measles

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF3H
    Interactions:

        Search GeneGlobe Interaction Network for EIF3H

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EIF3H (O153721, 2, 3 ENSP000002766824) via UniProtKB, MINT, STRING, and/or I2D (see all 713)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI3Q9P2A41, 3, ENSP000002259414EBI-709735,EBI-742038 I2D: score=4 STRING: ENSP00000225941
    DISC1Q9NRI51, 3, ENSP000003555964EBI-709735,EBI-529989 I2D: score=3 STRING: ENSP00000355596
    EIF3IQ133472, 3, ENSP000003626884MINT-7945693 I2D: score=2 STRING: ENSP00000362688
    HSP90AB1P082382, 3MINT-72672 MINT-7945693 I2D: score=2 
    EIF3LQ9Y2622, 3, ENSP000004168924MINT-7945693 I2D: score=1 STRING: ENSP00000416892
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001731formation of translation preinitiation complex IEA--
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006446regulation of translational initiation TAS9341143
    GO:0010467gene expression TAS--

    Find genes that share ontologies with EIF3H           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EIF3H



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EIF3H gene: 
    NM_003756.2  

    Unigene Cluster for EIF3H:

    Eukaryotic translation initiation factor 3, subunit H
    Hs.492599  [show with all ESTs]
    Unigene Representative Sequence: AK093128
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521861(uc003yoa.3) ENST00000276682(uc003yob.3) ENST00000520289
    ENST00000518949 ENST00000518995 ENST00000522800 ENST00000518034(uc011lhz.1)
    ENST00000517974 ENST00000522453 ENST00000519046 ENST00000520813
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    Additional mRNA sequence: 

    AK093128.1 AK222520.1 AK222620.1 AK296162.1 BC000386.2 BC090880.1 BT019594.1 CR456906.1 
    U54559.1 

    Selected DOTS entries (see all 34):

    DT.100878184  DT.91893881  DT.449743  DT.95277599  DT.100878187  DT.40307268  DT.95113512  DT.91772750 
    DT.100878193  DT.100878198  DT.121468790  DT.121468818  DT.95277164  DT.121468921  DT.121468763  DT.96086489 
    DT.100878199  DT.86569569  DT.91772720  DT.91970350  DT.95277094  DT.95277234  DT.95277522  DT.97855855 

    Selected AceView cDNA sequences (see all 990):

    BM720996 CR614647 BQ058157 BE874816 BQ961294 BM549239 AL043316 BG392660 
    CR590054 BG033877 BU684430 CB121087 BM472605 BG759023 BE732507 AI640850 
    BM971546 CB108040 BM996659 BM801050 BM905140 CB270227 CD724024 AI453653 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for EIF3H    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:              -                       -                                 
    SP2:                          -                                             


    ECgene alternative splicing isoforms for EIF3H

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EIF3H expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCTTGAA
    EIF3H Expression
    About this image


    EIF3H expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    EIF3H Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EIF3H Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492599
        Custom PCR Arrays for EIF3H
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF3H

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EIF3H gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif3h1 , 5 eukaryotic translation initiation factor 3, subunit more1, 5 89.49(n)1
    97.16(a)1
      15 (19.42 cM)5
    681351  NM_080635.11  NP_542366.11 
     517865635 
    chicken
    (Gallus gallus)
    Aves EIF3H1 eukaryotic translation initiation factor 3, subunit more 82.61(n)
    93.79(a)
      420288  NM_001030951.1  NP_001026122.1 
    lizard
    (Anolis carolinensis)
    Reptilia EIF3H6
    eukaryotic translation initiation factor 3, subuni...
    92(a)
    1 ↔ 1
    4(7106826-7165541)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77042 Xenopus laevis transcribed sequence with moderate similarity more 73.42(n)    CA985941.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj02c042 Transcribed sequence with moderate similarity to protein more 76(n)    CA470425.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eIF-3p401 Eukaryotic initiation factor 3 p40 subunit 53.97(n)
    46.67(a)
      45682  NM_080095.4  NP_524834.2 
    worm
    (Caenorhabditis elegans)
    Secernentea eif-3.H1 eif-3.H 51.38(n)
    42.36(a)
      172044  NM_058969.4  NP_491370.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TIF3H11 TIF3H1 52.26(n)
    42.9(a)
      837627  NM_100960.2  NP_563880.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g03765001 Os04g0376500 51.91(n)
    43.31(a)
      4335611  NM_001059117.1  NP_001052582.1 


    ENSEMBL Gene Tree for EIF3H (if available)
    TreeFam Gene Tree for EIF3H (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EIF3H gene
    1 SIMAP similar gene for EIF3H using alignment to 8 protein entries:     EIF3H_HUMAN (see all proteins):
    EIF3S3

    Find genes that share paralogs with EIF3H           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for EIF3H (see all 2051)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165207401,2
    C,F--117656677(+) TGAGTA/GCGGGG 1 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1390600581,2
    --117656695(+) GACCAC/TCACCT 1 -- ds50010--------
    rs340603441,2
    C,F--117656725(+) CTGACC/TGGAAT 1 -- ds50013Minor allele frequency- T:0.33NA 6
    rs168886131,2
    C,F,H--117656741(+) CAAGTG/AATTCC 1 -- ds500113Minor allele frequency- A:0.10NA NS EA WA 1220
    rs1113250171,2
    C,F--117656745(+) TGATTC/ACGGGT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs13476261,2
    C,F,O,H--117656781(+) GTACAC/TGAAGC 1 -- ds500134Minor allele frequency- T:0.24EA NS NA WA CSA 4323
    rs22784911,2
    C,F,H--117656871(+) GGCCTC/TGGGGT 1 -- ds500118Minor allele frequency- T:0.26EA NA NS 3854
    rs1921394241,2
    --117656923(+) TGGCAC/GCTGAG 1 -- ds50010--------
    rs1125544721,2
    C,F--117656969(+) CTGGTG/CAAACT 1 -- ds50012Minor allele frequency- C:0.50CSA 4
    rs1498670981,2
    --117657075(+) GTCAAG/TATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EIF3H (117654369 - 117779164 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EIF3H:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821264CNV Duplication20802225
    esv1006976CNV Insertion20482838
    nsv824723CNV Loss20364138

    Human Gene Mutation Database (HGMD): EIF3H
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF3H
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF3H

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603912    OMIM disorders: --

    1 disease for EIF3H:    
    About MalaCards
    trichorhinophalangeal syndrome type i

    1 disease from the University of Copenhagen DISEASES database for EIF3H:
    Trichorhinophalangeal syndrome type I

    Find genes that share disorders with EIF3H           About GenesLikeMe

    5 Novoseek inferred disease relationships for EIF3H gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate carcinoma 57.6 4 14997205 (3), 11733359 (1)
    prostate cancer 51.5 10 11733359 (3), 14997205 (2), 10825005 (2), 10362802 (1)
    breast cancer 33.4 2 14997205 (1), 10825005 (1)
    cancer 1.82 1 10825005 (1)
    tumors 0 9 11733359 (2), 10362802 (1)

    Genetic Association Database (GAD): EIF3H
    Human Genome Epidemiology (HuGE) Navigator: EIF3H (6 documents)

    Export disorders for EIF3H 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)
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    PubMed articles for EIF3H gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with EIF3H)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of cDNAs encoding human eukaryotic initiation factor 3 subunits. Possible roles in RNA binding and macromolecular assembly. (PubMed id 9341143)1, 2, 3 Asano K.... Hershey J.W.B. (J. Biol. Chem. 1997)
    2. Genetic heterogeneity in colorectal cancer associations between African and European americans. (PubMed id 20659471)1, 4 Kupfer S.S....Ellis N.A. (Gastroenterology 2010)
    3. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. (PubMed id 20437058)1, 4 Hawken S.J....Little J. (Hum. Genet. 2010)
    4. MYC and EIF3H Coamplification significantly improve response and survival of non-small cell lung cancer patients (NSCLC) treated with gefitinib. (PubMed id 19204574)1, 4 Cappuzzo F....Gemmill R. (J Thorac Oncol 2009)
    5. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. (PubMed id 18372905)1, 4 Tomlinson I.P....Houlston R.S. (Nat. Genet. 2008)
    6. Mass spectrometry reveals modularity and a complete subunit interaction map of the eukaryotic translation factor eIF3. (PubMed id 18599441)1, 2 Zhou M.... Robinson C.V. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. Reconstitution reveals the functional core of mammalian eIF3. (PubMed id 17581632)1, 2 Masutani M.... Imataka H. (EMBO J. 2007)
    8. Structural characterization of the human eukaryotic initiation factor 3 protein complex by mass spectrometry. (PubMed id 17322308)1, 2 Damoc E.... Leary J.A. (Mol. Cell. Proteomics 2007)
    9. mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation events. (PubMed id 16286006)1, 2 Holz M.K.... Blenis J. (Cell 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 8667 HGNC: 3273 AceView: EIF3S3 Ensembl:ENSG00000147677 euGenes: HUgn8667
    ECgene: EIF3H Kegg: 8667 H-InvDB: EIF3H

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EIF3H Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for EIF3H gene:
    Search GeneIP for patents involving EIF3H

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



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