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IFT57 Gene

protein-coding   GIFtS: 54
GCID: GC03M107879

Intraflagellar Transport 57 Homolog (Chlamydomonas)

(Previous name: estrogen-related receptor beta like 1)
(Previous symbol: ESRRBL1)
  See related diseases
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
Intraflagellar Transport 57 Homolog (Chlamydomonas)1 2     MHS4R22 3
ESRRBL11 2 3 5     HIP1-Interacting Protein2 3
HIPPI2 3 5     HIP1 Protein Interactor2
Estrogen-Related Receptor Beta Like 11 2     Huntingtin Interacting Protein-1 Interacting Protein2
Dermal Papilla-Derived Protein 82 3     Intraflagellar Transport Protein 57 Homolog2
Estrogen-Related Receptor Beta-Like Protein 12 3     DERP83

External Ids:    HGNC: 173671   Entrez Gene: 550812   Ensembl: ENSG000001144467   OMIM: 6066215   UniProtKB: Q9NWB73   

Export aliases for IFT57 gene to outside databases

Previous GC identifers: GC03M109363 GC03M105252


(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 IFT57 Gene:
IFT57 (intraflagellar transport 57 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT57 include bardet-biedl syndrome, and huntington's disease.

UniProtKB/Swiss-Prot: IFT57_HUMAN, Q9NWB7
Function: Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being
required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction
with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif
5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may
act as a transcription regulator; however the relevance of such function remains unclear

Gene Wiki entry for IFT57 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:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFT57 gene promoter:
         AML1a   Lmo2   POU3F2   NF-kappaB   RORalpha2   GATA-1   Nkx6-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT57 promoter sequence
   Search Chromatin IP Primers for IFT57

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFT57


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

Entrez Gene cytogenetic band: 3q13.13   Ensembl cytogenetic band:  3q13.13   HGNC cytogenetic band: 3q13.13

IFT57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT57 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M107879:  view genomic region     (about GC identifiers)

Start:
107,879,659 bp from pter      End:
107,941,417 bp from pter
Size:
61,759 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IFT57_HUMAN, Q9NWB7 (See protein sequence)
Recommended Name: Intraflagellar transport protein 57 homolog  
Size: 429 amino acids; 49108 Da
Subunit: Component of IFT complex B composed of IFT88, IFT57, TRAF3IP1, IFT52, IFT27, HSPB11/IFT25 and IFT20.
Interacts with IFT20 and IFT88. Interacts with BLOC1S2 and RYBP. Interacts with HOMER1, possibly leading to
prevent pro-apoptotic effects of IFT57 (By similarity). Interacts with HIP1. In normal conditions, it poorly
interacts with HIP1, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long
poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57,
leading to apoptosis. Interacts with BFAR. Interacts with chicken anemia virus protein apoptin
Secondary accessions: Q96DA9

Explore the universe of human proteins at neXtProt for IFT57: NX_Q9NWB7

Explore proteomics data for IFT57 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys329
  • Modification sites at PhosphoSitePlus

  • See IFT57 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060480.1  
    ENSEMBL proteins: 
     ENSP00000264538   ENSP00000417768   ENSP00000417439  

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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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    HGNC Gene Families:
    IFT: Intraflagellar transport homologs

    1 InterPro protein domain:
     IPR019530 Intra-flagellar_transport_57

    Graphical View of Domain Structure for InterPro Entry Q9NWB7

    ProtoNet protein and cluster: Q9NWB7

    UniProtKB/Swiss-Prot: IFT57_HUMAN, Q9NWB7
    Domain: The pseudo DED region (pDED) meadiates the interaction with HIP1
    Similarity: Belongs to the IFT57 family


    IFT57 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IFT57_HUMAN, Q9NWB7
    Function: Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being
    required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction
    with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif
    5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may
    act as a transcription regulator; however the relevance of such function remains unclear

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI11788820
         
    IFT57 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ift57):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  skeleton  vision/eye 

    IFT57 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ift57tm1Dwni for IFT57

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFT57
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IFT57

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    miRNA
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    Block miRNA regulation of human, mouse, rat IFT57 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IFT57 (see all 12):
    hsa-miR-320a hsa-miR-2052 hsa-miR-3163 hsa-miR-676 hsa-miR-3606 hsa-miR-320d hsa-miR-320b hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidIFT57 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IFT57

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    GenScript: all cDNA clones in your preferred vector: IFT57 (NM_018010)
    Sino Biological Human cDNA Clone for IFT57
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT57

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT57


    (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
    IFT57_HUMAN, Q9NWB7: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Concentrates within the
    inner segment of cilia (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol2
    golgi apparatus2
    mitochondrion2
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005929cilium ----
    GO:0016020membrane ----
    GO:0032391photoreceptor connecting cilium IEA--
    GO:0036064ciliary basal body ISS--

    IFT57 for ontologies           About GeneDecksing


    (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 IFT57 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for IFT57
        Huntington's Disease Pathway



    1 Kegg Pathway  (Kegg details for IFT57):
        Huntington's disease


    IFT57 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFT57: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IFT57

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for IFT57 (Q9NWB71, 3 ENSP000002645384) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S2Q6QNY11, 3EBI-725672,EBI-465872 I2D: score=1 
    CASP8Q147903, ENSP000003512734I2D: score=1 STRING: ENSP00000351273
    IFT20Q8IY313, ENSP000003505704I2D: score=1 STRING: ENSP00000350570
    HIP1O002913, ENSP000003367474I2D: score=2 STRING: ENSP00000336747
    YWHAEP622583I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006915apoptotic process IDA11788820
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11788820
    GO:0016192vesicle-mediated transport ----

    IFT57 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFT57



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IFT57 gene: 
    NM_018010.3  

    Unigene Cluster for IFT57:

    Intraflagellar transport 57 homolog (Chlamydomonas)
    Hs.412196  [show with all ESTs]
    Unigene Representative Sequence: NM_018010
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264538(uc021xcc.1 uc003dwx.4) ENST00000468021 ENST00000478157
    ENST00000465024 ENST00000485979 ENST00000492106
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IFT57 (see all 12):
    hsa-miR-320a hsa-miR-2052 hsa-miR-3163 hsa-miR-676 hsa-miR-3606 hsa-miR-320d hsa-miR-320b hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidIFT57 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IFT57
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    GenScript: all cDNA clones in your preferred vector: IFT57 (NM_018010)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat IFT57
      QuantiFast Probe-based Assays in human, mouse, rat IFT57

    Additional mRNA sequence: 

    AB014762.1 AF139576.1 AF245220.1 AK001009.1 AK298854.1 BC009690.2 BC011899.2 CR457251.1 

    12 DOTS entries:

    DT.99998427  DT.452286  DT.100810229  DT.100810234  DT.91760939  DT.120882119  DT.95123980  DT.75152227 
    DT.97842597  DT.100664772  DT.91760940  DT.99995351 

    Selected AceView cDNA sequences (see all 276):

    BP360571 BQ188786 AW169917 CA391023 BM462735 CA313234 BM127664 CB134684 
    BX385802 NM_018010 BP371476 BM474376 BM993111 C20557 AI867040 CR592400 
    D45509 BP336866 AW299269 AB014762 BF592117 AI763077 CR626087 BM552043 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for IFT57    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                      -                                             
    SP2:                    -                 -                                             
    SP3:                                                                                    


    ECgene alternative splicing isoforms for IFT57

    (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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    IFT57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATTATGA
    IFT57 Expression
    About this image


    IFT57 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Ovary (Reproductive System)
             Oviduct
    IFT57 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFT57 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.412196

    UniProtKB/Swiss-Prot: IFT57_HUMAN, Q9NWB7
    Tissue specificity: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at
    protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFT57: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
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    QuantiFast Probe-based Assays in human, mouse, rat IFT57
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT57

    (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 animals.

    Orthologs for IFT57 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift571 , 5 intraflagellar transport 57 homolog (Chlamydomonas)5
    intraflagellar transport 571
    87.8(n)1
    90.68(a)1
      16 (31.08 cM)5
    739161  NM_028680.31  NP_082956.21 
     496992335 
    chicken
    (Gallus gallus)
    Aves IFT571 intraflagellar transport 57 homolog (Chlamydomonas) 76.07(n)
    74.64(a)
      418409  XM_004938288.1  XP_004938345.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT576
    intraflagellar transport 57 homolog (Chlamydomonas...
    71(a)
    1 ↔ 1
    3(169409067-169436789)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.162232 Xenopus laevis transcribed sequence with moderate similarity more 77.82(n)    BJ099513.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.151382 Transcribed sequence with moderate similarity to protein more 75.3(n)    BQ074224.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Che-131 Hippi 47.75(n)
    38.48(a)
      33579  NM_134948.2  NP_608792.1 
    worm
    (Caenorhabditis elegans)
    Secernentea che-131 che-13 51.45(n)
    40.31(a)
      186607  NM_001264468.1  NP_001251397.1 


    ENSEMBL Gene Tree for IFT57 (if available)
    TreeFam Gene Tree for IFT57 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IFT57 gene

    IFT57 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for IFT57
    PGOHUM00000239714 PGOHUM00000234933


    (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)
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    Selected SNPs for IFT57 (see all 1486)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1848179451,2
    --107879177(+) TTTTTC/TTTAAA 1 -- int10--------
    rs622641441,2
    C,F--107879274(+) GGAAAT/CATGTG 1 -- int15Minor allele frequency- C:0.09NA WA EA 362
    rs1487029931,2
    C--107879278(+) ATATGA/TGTGTG 1 -- int10--------
    rs4529131,2
    C,F,A,H--107879363(+) tgatgC/Tttcta 1 -- int116Minor allele frequency- T:0.01NS EA NA WA CSA 791
    rs791838451,2
    F--107879457(+) ATTAAA/TCTCTT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1900920741,2
    --107879509(+) CAGTGC/GCAGTC 1 -- int10--------
    rs622641451,2
    C,F--107879516(+) AGTCAT/CCTACT 1 -- int15Minor allele frequency- C:0.10NA WA EA 362
    rs622641461,2
    C--107879730(+) CCCAAG/CCTGAG 1 -- ut314Minor allele frequency- C:0.10WA NA EA 360
    rs4283211,2
    C,F,O,A,H--107879986(-) GTCTAA/GTACAA 1 -- ut31 ese345Minor allele frequency- T:0.00EA NA MN NS WA CSA 4010
    rs1818382011,2
    --107880036(+) TTTAAA/GAAATG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for IFT57 (107879659 - 107941417 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IFT57:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273899CNV Insertion20981092
    esv271532CNV Insertion20981092
    esv271566CNV Insertion20981092
    nsv829656CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (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: 606621    OMIM disorders: --

    4 diseases for IFT57:    
    About MalaCards
    bardet-biedl syndrome    huntington's disease    neuronitis    malaria

    1 disease from the University of Copenhagen DISEASES database for IFT57:
    Huntington's disease

    IFT57 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for IFT57 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 63.7 1 11832235 (1)

    Genetic Association Database (GAD): IFT57

    Export disorders for IFT57 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 IFT57 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with IFT57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. (PubMed id 11788820)1, 2, 9 Gervais F.G.... Nicholson D.W. (Nat. Cell Biol. 2002)
    2. Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo. (PubMed id 17173859)1, 2 Majumder P.... Bhattacharyya N.P. (Biochem. Biophys. Res. Commun. 2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1. (PubMed id 12745083)1, 2 Cheng C.-M.... Yuo C.-Y. (Biochem. Biophys. Res. Commun. 2003)
    5. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PubMed id 14502241)1, 2 Roth W....Reed J.C. (Cell Death Differ. 2003)
    6. Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1. (PubMed id 17142908)1, 9 Banerjee M....Sen U. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2006)
    7. Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation. (PubMed id 21943362)1 Datta M....Bhattacharyya N.P. (BMC Genomics 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI). (PubMed id 21832040)1 Datta M. and Bhattacharyya N.P. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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)
    About This Section

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    Entrez Gene: 55081 HGNC: 17367 AceView: ESRRBL1 Ensembl:ENSG00000114446 euGenes: HUgn55081
    ECgene: IFT57 Kegg: 55081 H-InvDB: IFT57

    (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 IFT57 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 IFT57 gene:
    Search GeneIP for patents involving IFT57

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



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