Ift172 intraflagellar transport 172 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift172provided by MGI
Official Full Name: intraflagellar transport 172provided by MGI
Primary source: MGI:MGI:2682064
See related: Ensembl:ENSMUSG00000038564 AllianceGenome:MGI:2682064
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: Slb; wim; avc1; 4930553F24Rik
Summary: Involved in smoothened signaling pathway. Acts upstream of or within several processes, including animal organ development; regionalization; and regulation of smoothened signaling pathway. Located in sperm cytoplasmic droplet; sperm midpiece; and sperm principal piece. Part of intraciliary transport particle B. Is expressed in several structures, including brain; endocrine gland; genitourinary system; olfactory epithelium; and trachea. Used to study VACTERL association; atrioventricular septal defect; and retinal degeneration. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 20; retinitis pigmentosa 71; and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 50.1), cerebellum adult (RPKM 7.6) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 17.27 cM

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (31410623..31448458, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (31253279..31291391, complement)

Chromosome 5 - NC_000071.7 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?

Murine germ cell-specific disruption of Ift172 causes defects in spermiogenesis and male fertility.
Title: Murine germ cell-specific disruption of Ift172 causes defects in spermiogenesis and male fertility.
This mouse model exhibits key features of the retinal phenotype observed in patients with IFT172-associated blindness and can be used for in vivo testing of ciliopathy therapies.
Title: Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.
Mutation of Ift172 results in a specific class of abnormal cilia and resulting in the VACTERL-like features with hydrocephalus phenotype.
Title: A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.
Phenotype of the disrupted allele by using CRE expression directed by the prx1 enhancer to disrupt the conditional Ift172 allele in the developing limb.
Title: Generation of mice with a conditional allele for Ift172.
The formation and function of the node and anterior mesendoderm in the mouse embryo relies on an indispensable role of Ift172 in cilia morphogenesis and cilia-mediated signaling.
Title: Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain.
Ift172 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
identification of two mouse mutants, wimple (wim) and flexo (fxo), that lack ventral neural cell types and show other phenotypes characteristic of defects in Sonic hedgehog signalling
Title: Hedgehog signalling in the mouse requires intraflagellar transport proteins.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI838506 (e-PCR)
- UniSTS:165389

MARC_8083-8084:996688275:1 (e-PCR)
- UniSTS:269889

NoName (e-PCR)
- UniSTS:235159

AW321088 (e-PCR)
- UniSTS:179146

RH92034 (e-PCR)
- UniSTS:87789

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	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 brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindgut development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary anterograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within left/right axis specification	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 development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	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 smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology 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
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 motile cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in sperm cytoplasmic droplet	IDA Inferred from Direct Assay more info	PubMed
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport protein 172 homolog

Names: intraflagellar transport 172 homolog; intraflagellar transport 172 protein; protein wimple; selective LIM-binding factor Wimple

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_026298.5 → NP_080574.5 intraflagellar transport protein 172 homolog

See identical proteins and their annotated locations for NP_080574.5

Status: VALIDATED

Source sequence(s)

AY339616, BC051928, BY317597

Consensus CDS

CCDS39054.1

UniProtKB/Swiss-Prot

Q6NZK1, Q6VH22, Q80TI4, Q80W19, Q9DAB0

Related

ENSMUSP00000049335.8, ENSMUST00000041565.11

Conserved Domains (4) summary

cd15832
Location:810 → 866

SNAP; TPR repeat [structural motif]

sd00039
Location:20 → 64

7WD40; WD40 repeat [structural motif]

cl24038
Location:810 → 994

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

cl29593
Location:17 → 318

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 ...