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

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: Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and skeletal system development. Located in centrosome and ciliary basal body. Part of intraciliary transport particle B. Is active in 9+0 non-motile cilium. Is expressed in brain. 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, Nov 2024]
Expression: Broad expression in testis adult (RPKM 8.7), CNS E11.5 (RPKM 6.3) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E1; 3 32.07 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IFT80 negatively regulates osteoclast differentiation via association with Cbl-b to disrupt TRAF6 stabilization and activation.
Title: IFT80 negatively regulates osteoclast differentiation via association with Cbl-b to disrupt TRAF6 stabilization and activation.
IFT80 Is Required for Fracture Healing Through Controlling the Regulation of TGF-beta Signaling in Chondrocyte Differentiation and Function.
Title: IFT80 Is Required for Fracture Healing Through Controlling the Regulation of TGF-β Signaling in Chondrocyte Differentiation and Function.
IFT80 controls tooth development through influencing cell proliferation, differentiation, and polarization, and Hh and FGF/AKT signaling pathways, demonstrating that IFT proteins are likely to be the new therapeutic targets for tooth and other tissue repair and regeneration.
Title: IFT80 is required for stem cell proliferation, differentiation, and odontoblast polarization during tooth development.
IFT80 is required for osteoblast differentiation.
Title: Ciliary IFT80 balances canonical versus non-canonical hedgehog signalling for osteoblast differentiation.
loss of IFT80 blocks chondrocyte differentiation by disruption of ciliogenesis and alteration of Hh and Wnt signaling transduction.
Title: Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation.
Silencing IFT80 impaired cilia formation and chondrogenic differentiation in mouse bone marrow derived stromal cells
Title: IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways.
IFT80 plays an important role in osteogenesis through regulating Hedgehog/Gli signal pathways.
Title: The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis.
an absolute requirement for Ift80 in hedgehog signalling, but low level expression permits ciliogenesis indicating separate but linked roles for this protein in formation and function.
Title: An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within articular cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone 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 canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	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
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 cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment or maintenance of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	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 multicellular organism growth	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 odontoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification	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 osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein ubiquitination	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 response to inositol	IDA Inferred from Direct Assay 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
acts_upstream_of_or_within spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tooth eruption	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
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
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
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
part_of intraciliary transport particle B	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_026641.2 → NP_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

Q6ZPT0, Q8C9F1, Q8K057, Q91YV4

Related

ENSMUSP00000103442.2, ENSMUST00000107812.8

Conserved Domains (3) summary

COG2319
Location:157 → 606

WD40; WD40 repeat [General function prediction only]

sd00039
Location:110 → 145

7WD40; WD40 repeat [structural motif]

cl29593
Location:13 → 287

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

68799832..68911939 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

sd00039
Location:18 → 55

7WD40; WD40 repeat [structural motif]

cl29593
Location:17 → 254

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 ...
XM_017319702.3 → XP_017175191.1 intraflagellar transport protein 80 homolog isoform X2

Conserved Domains (2) summary

sd00039
Location:110 → 145

7WD40; WD40 repeat [structural motif]

cl29593
Location:13 → 287

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 ...
XM_006501966.5 → XP_006502029.1 intraflagellar transport protein 80 homolog isoform X1

See identical proteins and their annotated locations for XP_006502029.1

UniProtKB/Swiss-Prot

Q6ZPT0, Q8C9F1, Q8K057, Q91YV4

Conserved Domains (3) summary

COG2319
Location:157 → 606

WD40; WD40 repeat [General function prediction only]

sd00039
Location:110 → 145

7WD40; WD40 repeat [structural motif]

cl29593
Location:13 → 287

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 ...