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

Gene ID: 67661, updated on 5-Mar-2024

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
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Genomic context

See Ift172 in Genome Data Viewer
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_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 9970 Neighboring gene nuclear receptor binding protein 1 Neighboring gene keratinocyte associated protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:31593577-31593686 Neighboring gene fibronectin type III domain containing 4 Neighboring gene glucokinase regulatory protein Neighboring gene STARR-seq mESC enhancer starr_12769

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)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_026298.5NP_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:810866
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:2064
    7WD40; WD40 repeat [structural motif]
    cl24038
    Location:810994
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    cl29593
    Location:17318
    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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    31410623..31448458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)