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Ift80 intraflagellar transport 80 [ Mus musculus (house mouse) ]

Gene ID: 68259, updated on 8-Dec-2022

Summary

Official Symbol
Ift80provided by MGI
Official Full Name
intraflagellar transport 80provided by MGI
Primary source
MGI:MGI:1915509
See related
Ensembl:ENSMUSG00000027778 AllianceGenome:MGI:1915509
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Wdr56; mKIAA1374; 4921524P20Rik
Summary
Involved in non-motile cilium assembly. Acts upstream of or within several processes, including osteoblast proliferation; receptor localization to non-motile cilium; and skeletal system development. Located in 9+0 non-motile cilium; centrosome; and ciliary basal body. Part of intraciliary transport particle B. Is expressed in diencephalon lateral wall ventricular layer; hypothalamus ventricular layer; midbrain ventricular layer; olfactory cortex ventricular layer; and telencephalon ventricular layer. Used to study asphyxiating thoracic dystrophy 2 and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 2. Orthologous to human IFT80 (intraflagellar transport 80). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 8.7), CNS E11.5 (RPKM 6.3) and 21 other tissues See more
Orthologs
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Genomic context

See Ift80 in Genome Data Viewer
Location:
3; 3 E1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (68799832..68911939, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (68892499..69004680, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene spermine synthase pseudogene Neighboring gene RIKEN cDNA 1110032F04 gene Neighboring gene oxysterol binding protein-like 9 pseudogene Neighboring gene microRNA 16-2 Neighboring gene structural maintenance of chromosomes 4 Neighboring gene microRNA 15b

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within articular cartilage development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone mineralization involved in bone maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chondrocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within endochondral ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within growth plate cartilage chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within growth plate cartilage development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intraciliary anterograde transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within intraciliary transport IC
Inferred by Curator
more info
PubMed 
acts_upstream_of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of non-canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of non-canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within osteoblast differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within osteoblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within receptor localization to non-motile cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in 9+0 non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium NAS
Non-traceable Author Statement
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of intraciliary transport particle B IDA
Inferred from Direct Assay
more info
PubMed 
part_of intraciliary transport particle B ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
intraflagellar transport protein 80 homolog
Names
WD repeat domain 56
WD repeat-containing protein 56
intraflagellar transport 80 homolog

NCBI Reference Sequences (RefSeq)

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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_026641.2NP_080917.1  intraflagellar transport protein 80 homolog

    See identical proteins and their annotated locations for NP_080917.1

    Status: VALIDATED

    Source sequence(s)
    AC115062, AC122876, AK042231
    Consensus CDS
    CCDS38451.1
    UniProtKB/Swiss-Prot
    Q8K057, Q91YV4
    UniProtKB/TrEMBL
    A0A8C6I0R0
    Related
    ENSMUSP00000103442.2, ENSMUST00000107812.8
    Conserved Domains (3) summary
    COG2319
    Location:157606
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:110145
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:13287
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    68799832..68911939 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501967.5XP_006502030.1  intraflagellar transport protein 80 homolog isoform X3

    Conserved Domains (2) summary
    sd00039
    Location:1855
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:17254
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_017319702.3XP_017175191.1  intraflagellar transport protein 80 homolog isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:110145
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:13287
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_006501966.5XP_006502029.1  intraflagellar transport protein 80 homolog isoform X1

    See identical proteins and their annotated locations for XP_006502029.1

    UniProtKB/Swiss-Prot
    Q8K057, Q91YV4
    UniProtKB/TrEMBL
    A0A8C6I0R0
    Conserved Domains (3) summary
    COG2319
    Location:157606
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:110145
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:13287
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. XR_001783737.3 RNA Sequence