Ift56 intraflagellar transport 56 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift56provided by MGI
Official Full Name: intraflagellar transport 56provided by MGI
Primary source: MGI:MGI:2444853
See related: Ensembl:ENSMUSG00000056832 AllianceGenome:MGI:2444853
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: hop; hpy; Ttc26; 9330141E21Rik; 9430097H08Rik
Summary: Enables intraciliary transport particle B binding activity. Involved in cilium organization; protein localization to cilium; and smoothened signaling pathway. Acts upstream of or within manchette assembly. Located in centrosome; ciliary basal body; and neuron projection. Part of intraciliary transport particle B. Is expressed in spinal cord. Orthologous to human IFT56 (intraflagellar transport 56). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 4.0), CNS E11.5 (RPKM 2.9) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B1; 6 17.76 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (38358400..38404582)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (38381464..38427647)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Hop Mice Display Synchronous Hindlimb Locomotion and a Ventrally Fused Lumbar Spinal Cord Caused by a Point Mutation in Ttc26.
Title: Hop Mice Display Synchronous Hindlimb Locomotion and a Ventrally Fused Lumbar Spinal Cord Caused by a Point Mutation in Ttc26.
These studies define a distinct and novel role for IFT56 in IFTB complex integrity that is crucial for cilia structure and function and, ultimately, animal development.
Title: IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture.
Data show that Hop is expressed in airway epithelium coincident with HDAC2, and acts downstream of Nkx2.1 and GATA6, to negatively regulate surfactant protein expression.
Title: Hop functions downstream of Nkx2.1 and GATA6 to mediate HDAC-dependent negative regulation of pulmonary gene expression.
TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
Title: TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
Our analysis of the hop mouse line provides novel insights into Hh signaling, demonstrating that Ttc26 is necessary for efficient coupling between the accumulation of Gli at the ciliary tip and its dissociation from Sufu.
Title: A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling.

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Phenotypes

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Associated conditions

Description	Tests
hop-sterile GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Radiation induced (1)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables intraciliary transport particle B binding	IBA Inferred from Biological aspect of Ancestor more info
enables intraciliary transport particle B binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary anterograde transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary anterograde transport	IC Inferred by Curator more info	PubMed
involved_in intraciliary anterograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport involved in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within manchette assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell differentiation	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within photoreceptor cell morphogenesis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary base	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
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
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport protein 56

Names: TPR repeat protein 26; hydrocephalic-polydactyl; protein hop-sterile; tetratricopeptide repeat domain 26; tetratricopeptide repeat protein 26

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_153600.2 → NP_705828.2 intraflagellar transport protein 56

See identical proteins and their annotated locations for NP_705828.2

Status: PROVISIONAL

Source sequence(s)

BC066060

Consensus CDS

CCDS51750.1

UniProtKB/Swiss-Prot

Q8BS45

Related

ENSMUSP00000124369.2, ENSMUST00000162554.8

Conserved Domains (2) summary

TIGR02917
Location:33 → 346

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:58 → 86

TPR; TPR repeat [structural motif]

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_000072.7 Reference GRCm39 C57BL/6J

Range

38358400..38404582

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506152.5 → XP_006506215.1 intraflagellar transport protein 56 isoform X1

Conserved Domains (2) summary

TIGR02917
Location:33 → 346

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:58 → 86

TPR; TPR repeat [structural motif]