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IFT57 intraflagellar transport 57 [ Homo sapiens (human) ]

Gene ID: 55081, updated on 8-May-2016
Official Symbol
IFT57provided by HGNC
Official Full Name
intraflagellar transport 57provided by HGNC
Primary source
HGNC:HGNC:17367
See related
Ensembl:ENSG00000114446 HPRD:09430; MIM:606621; Vega:OTTHUMG00000159223
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; MHS4R2; ESRRBL1
Orthologs
Location:
3q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (108160812..108222570, 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 uncharacterized LOC105374032 Neighboring gene HERV-H LTR-associating 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

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 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
 
left/right pattern formation 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
 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
axoneme IEA
Inferred from Electronic Annotation
more info
 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
dendrite terminus IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
 
intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
primary cilium TAS
Traceable Author Statement
more info
 
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

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_018010.3NP_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, OTTHUMP00000214395, ENST00000264538, OTTHUMT00000353918
    Conserved Domains (1) summary
    pfam10498
    Location:44402
    IFT57; Intra-flagellar transport protein 57

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    108160812..108222570 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    107843767..107905541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)