Format

Send to:

Choose Destination
    • Showing Current items.

    IFT57 intraflagellar transport 57 [ Homo sapiens (human) ]

    Gene ID: 55081, updated on 17-Jun-2019

    Summary

    Official Symbol
    IFT57provided by HGNC
    Official Full Name
    intraflagellar transport 57provided by HGNC
    Primary source
    HGNC:HGNC:17367
    See related
    Ensembl:ENSG00000114446 MIM:606621
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIPPI; OFD18; MHS4R2; ESRRBL1
    Expression
    Broad expression in testis (RPKM 34.1), lung (RPKM 27.3) and 24 other tissues See more
    Orthologs

    Genomic context

    See IFT57 in Genome Data Viewer
    Location:
    3q13.12-q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (108160812..108222424, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (107879659..107941417, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374031 Neighboring gene long intergenic non-protein coding RNA 1215 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 17 Neighboring gene HERV-H LTR-associating 2 Neighboring gene myosin heavy chain 15 Neighboring gene ribosomal protein L13 pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Intraflagellar transport, organism-specific biosystem (from REACTOME)
      Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10147

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intraciliary transport involved in cilium assembly TAS
    Traceable Author Statement
    more info
     
    left/right pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary tip TAS
    Traceable Author Statement
    more info
     
    cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium TAS
    Traceable Author Statement
    more info
     
    dendrite terminus IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intraciliary transport particle B ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 57 homolog
    Names
    HIP1 protein interactor
    HIP1-interacting protein
    dermal papilla-derived protein 8
    estrogen-related receptor beta like 1
    estrogen-related receptor beta-like protein 1
    huntingtin interacting protein-1 interacting protein
    intraflagellar transport 57 homolog

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018010.4NP_060480.1  intraflagellar transport protein 57 homolog

      See identical proteins and their annotated locations for NP_060480.1

      Status: VALIDATED

      Source sequence(s)
      AC012020, AF139576, BC011899, DA362330
      Consensus CDS
      CCDS2951.1
      UniProtKB/Swiss-Prot
      Q9NWB7
      Related
      ENSP00000264538.3, ENST00000264538.4
      Conserved Domains (1) summary
      pfam10498
      Location:45401
      IFT57; Intra-flagellar transport protein 57

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      108160812..108222424 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center