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IFT52 intraflagellar transport 52 [ Homo sapiens (human) ]

Gene ID: 51098, updated on 17-Jun-2019

Summary

Official Symbol
IFT52provided by HGNC
Official Full Name
intraflagellar transport 52provided by HGNC
Primary source
HGNC:HGNC:15901
See related
Ensembl:ENSG00000101052 MIM:617094
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NGD2; NGD5; CGI-53; C20orf9
Summary
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in testis (RPKM 15.9), thyroid (RPKM 13.4) and 25 other tissues See more
Orthologs

Genomic context

See IFT52 in Genome Data Viewer
Location:
20q13.12
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (43590937..43647299)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42219574..42275862)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene L3MBTL histone methyl-lysine binding protein 1 Neighboring gene transmembrane protein 14C pseudogene Neighboring gene serum/glucocorticoid regulated kinase 2 Neighboring gene ribosomal protein L27a pseudogene Neighboring gene MYB proto-oncogene like 2

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

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 ...
  • 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

  • FLJ40284

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
intraciliary anterograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neural tube formation IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of protein processing IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
ciliary base IEA
Inferred from Electronic Annotation
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
 
motile cilium 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 52 homolog
Names
protein NGD5 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.

Genomic

  1. NG_051913.1 RefSeqGene

    Range
    5001..61684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303458.3NP_001290387.1  intraflagellar transport protein 52 homolog isoform 1

    See identical proteins and their annotated locations for NP_001290387.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF151811, AI819589, AL121886, BC039831, BP308189, DC358472
    Consensus CDS
    CCDS33470.1
    UniProtKB/Swiss-Prot
    Q9Y366
    Related
    ENSP00000362130.4, ENST00000373039.4
    Conserved Domains (1) summary
    cl23805
    Location:2116
    ABC_transp_aux; ABC-type uncharacterized transport system
  2. NM_001303459.3NP_001290388.1  intraflagellar transport protein 52 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1.
    Source sequence(s)
    AI819589, AL121886, Z98752
    Conserved Domains (1) summary
    cl23805
    Location:17116
    ABC_transp_aux; ABC-type uncharacterized transport system
  3. NM_001323578.2NP_001310507.1  intraflagellar transport protein 52 homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI819589, AL121886, Z98752
  4. NM_001323579.2NP_001310508.1  intraflagellar transport protein 52 homolog isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI819589, AL121886, Z98752
  5. NM_001323580.2NP_001310509.1  intraflagellar transport protein 52 homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI819589, AL121886, Z98752
  6. NM_001323581.2NP_001310510.1  intraflagellar transport protein 52 homolog isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI819589, AL121886, Z98752
  7. NM_016004.5NP_057088.2  intraflagellar transport protein 52 homolog isoform 1

    See identical proteins and their annotated locations for NP_057088.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AI819589, AL121886, BC039831, BP308189, DC358472
    Consensus CDS
    CCDS33470.1
    UniProtKB/Swiss-Prot
    Q9Y366
    Related
    ENSP00000362121.3, ENST00000373030.7
    Conserved Domains (1) summary
    cl23805
    Location:2116
    ABC_transp_aux; ABC-type uncharacterized transport system

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_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    43590937..43647299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027863.2XP_016883352.1  intraflagellar transport protein 52 homolog isoform X1

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