Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

IFT57 Gene

protein-coding   GIFtS: 51
GCID: GC03M107879

intraflagellar transport 57 homolog (Chlamydomonas)

(Previous name: estrogen-related receptor beta like 1 )
(Previous symbol: ESRRBL1)
 Explore 5 diseases affiliated with
IFT57 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IFT57    

Aliases
for IFT57 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Intraflagellar Transport 57 Homolog (Chlamydomonas)1 2     HIP1-Interacting Protein2 3
ESRRBL11 2 3 5     FLJ101471
HIPPI1 2 3 5     HIP1 Protein Interactor2
MHS4R21 2 3     Huntingtin Interacting Protein-1 Interacting Protein2
Estrogen-Related Receptor Beta Like 11 2     Intraflagellar Transport Protein 57 Homolog2
Dermal Papilla-Derived Protein 82 3     DERP83
Estrogen-Related Receptor Beta-Like Protein 12 3     

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


Summaries
for IFT57 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 plasmid: IFT57 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFT57

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for IFT57 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 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
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Concentrates within the inner
segment of cilia (By similarity)
Secondary accessions: Q96DA9

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NWB7

    • IFT57 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: IFT57
    OriGene Protein Over-expression Lysate: IFT57
    OriGene Custom Protein Services for IFT57 
    GenScript Custom Purified and Recombinant Proteins Services for IFT57
    Novus Biologicals IFT57 Proteins
    Novus Biologicals IFT57 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for IFT57

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005929cilium ----
    GO:0005932microtubule basal body ISS--
    GO:0032391photoreceptor connecting cilium IEA--
    GO:0044292dendrite terminus IEA--


    IFT57 for ontologies           About GeneDecksing



    IFT57 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 6): IFT57
    OriGene Custom Antibody Services for IFT57 
    GenScript Custom Superior Antibodies Services for IFT57
    Novus Biologicals IFT57 Antibodies
    Search for Antibodies for IFT57 at Abcam  
    Uscn Antibodies for IFT57
    ThermoFisher Antibodies for IFT57

    Assay Products for IFT57: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IFT57
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for IFT57

    Protein Domains /
    Families
    for IFT57 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IFT57 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for IFT57 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: IFT57
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFT57
    8/12 QIAGEN miScript miRNA 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 plasmid: IFT57 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFT57 (see all 7)
    OriGene shRNA RFP: IFT57
    OriGene siRNA: IFT57
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFT57

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for IFT57

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: IFT57 (NM_018010)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFT57
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT57 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for IFT57
    Search LifeMap BioReagents cell lines for IFT57

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

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI18188704


    IFT57 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ift57tm1Dwni for IFT57
         10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ift57):
     cardiovascular system  craniofacial  embryogenesis  growth/size  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  skeleton  vision/eye 

    IFT57 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for IFT57 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Huntington's disease0.40

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    IFT57 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IFT57

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

    5/11 Interacting proteins for IFT57 (Q9NWB71, 3 ENSP000002645384) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S2Q6QNY11, 3EBI-1581177,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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006915apoptotic process IDA11788820
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11788820
    GO:0042981regulation of apoptotic process IDA11788820


    IFT57 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IFT57 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 IFT57
    Search CenterWatch for drugs/clinical trials and news about IFT57 

    Transcripts
    for IFT57 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone: IFT57
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFT57
    8/12 QIAGEN miScript miRNA 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 plasmid: IFT57 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFT57 (see all 7)
    OriGene shRNA RFP: IFT57
    OriGene siRNA: IFT57
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFT57
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: IFT57 (NM_018010)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFT57
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT57 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT57
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IFT57
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFT57
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFT57

    Additional cDNA 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 

    24/276 AceView cDNA sequences (see all 276):

    CB134684 AW299269 AB014762 BQ632687 AK001009 BE466512 NM_018010 BX385802 
    CR605606 CA391023 N46958 AW152430 AW169917 BM710373 BM127664 AI683267 
    AW025413 CB270582 AI763077 BM701144 AA386221 BM479987 BQ440549 BM474376 

    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

    Expression
    for IFT57 gene

    (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

    IFT57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGATTATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IFT57 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See IFT57 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFT57

    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)

        SABiosciences Expression via Pathway-Focused PCR Arrays including IFT57: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT57
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IFT57
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFT57
    QIAGEN 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
    for IFT57 gene

    (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 animals.

    Orthologs for IFT57 gene from 7/24 species (see all 24)    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) 78.05(n)
    77.06(a)    		   418409  XM_416624.3  XP_416624.3 
    lizard
    (Anolis carolinensis)    		 Reptilia IFT576
    		 --
    		 72(a)
    		 1 ↔ 1
    		 3(169409215-169430590)
    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 CG88531 CG8853 47.79(n)
    38.59(a)    		   33579  NM_134948.1  NP_608792.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea che-131 Protein CHE-13 51.36(n)
    40.05(a)    		   186607  NM_060348.2  NP_492749.2 


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

    Paralogs
    for IFT57 gene

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

    IFT57 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for IFT57
    PGOHUM00000239714 PGOHUM00000234933


    Genomic Variants
    for IFT57 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1284 NCBI SNPs in IFT57 are shown (see all 1284)     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
    		--107879278(+) ATATGA/TGTGTG 1 -- int10--------
    rs1435220201,2
    		C,--107879327(+) ATCTA-/TACT  
                TACTT     		1 -- int10--------
    rs358712211,2
    		C--107879328(+) TACTT-/ACTT  
                TTAAA     		1 -- int11Minor allele frequency- ACTT:0.00NA 2
    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

    HapMap Linkage Disequilibrium report for IFT57 (107879659 - 107941417 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IFT57: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT57
    DNA2.0 Custom Variant and Variant Library Synthesis for IFT57

    Disorders / Diseases
    for IFT57 gene

    (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.)
    About This Section
    IFT57 for disorders           About GeneDecksing

    OMIM gene information: 606621    OMIM disorders: --

    5 diseases for IFT57:    About MalaCards
    bardet-biedl syndrome    huntington's disease    anemia    glioblastoma
    neuronitis

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

    1 Novoseek 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)


    Export disorders for IFT57 gene to outside databases

    Publications
    for IFT57 gene

    (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 IFT57 gene, integrated from 9 sources (see all 26):
    (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. (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. (2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2003)
    5. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PubMed id 14502241)1, 2 Roth W....Reed J.C. (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. (2006)
    7. Genome wide gene expression regulation by HIP1 Protei n Interactor, HIPPI: prediction and validation. (PubMed id 21943362)1 Datta M....Bhattacharyya N.P. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Regulation of RE1 protein silencing transcription fac tor (REST) expression by HIP1 protein interactor (HIPPI). (PubMed id 21832040)1 Datta M. and Bhattacharyya N.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for IFT57 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IFT57 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55081 HGNC: 17367 AceView: ESRRBL1 Ensembl:ENSG00000114446 euGenes: HUgn55081
    ECgene: IFT57 Kegg: 55081 H-InvDB: IFT57

    Other Databases showing IFT57 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IFT57 gene

    (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 IFT57 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for IFT57 gene

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



    Products
    for IFT57 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for IFT57   OriGene shRNA RFP for IFT57  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFT57   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT57  
     OriGene Protein Over-expression Lysate for IFT57   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for IFT57   OriGene 3'-UTR Clone for IFT57  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT57  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for IFT57   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IFT57   OriGene Custom Protein Services for IFT57  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IFT57
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT57
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT57
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFT57
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFT57
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFT57
     GenScript Custom Purified and Recombinant Proteins Services for IFT57 GenScript cDNA clones with any tag delivered in your preferred vector for IFT57
     GenScript Custom Assay Services for IFT57 GenScript Custom Superior Antibodies Services for IFT57
     GenScript Custom overexpressing Cell Line Services for IFT57 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in IFT57 promoter
     Search Chromatin IP Primers for IFT57
     RT2 qPCR Primer Assay in human, mouse, rat IFT57
     GNC Network for IFT57
     SABiosciences PCR Arrays including human, mouse, rat IFT57
     Search Tocris compounds for IFT57
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     IFT57 antibodies
     IFT57 proteins
     IFT57 lysates
     Search for Antibodies for IFT57 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for IFT57
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     IFT57 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for IFT57
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT57
     SwitchGear 3'UTR luciferase reporter plasmids for IFT57
     SwitchGear Promoter luciferase reporter plasmids for IFT57
     ThermoFisher Antibodies for IFT57
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT57
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      IFT57 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4