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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)
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