Ift122 intraflagellar transport 122 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift122provided by MGI
Official Full Name: intraflagellar transport 122provided by MGI
Primary source: MGI:MGI:1932386
See related: Ensembl:ENSMUSG00000030323 AllianceGenome:MGI:1932386
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: sopb; Wdr10
Summary: Involved in several processes, including cilium organization; embryonic morphogenesis; and protein localization to organelle. Acts upstream of or within several processes, including embryonic morphogenesis; non-motile cilium assembly; and smoothened signaling pathway. Located in several cellular components, including ciliary basal body; ciliary base; and photoreceptor connecting cilium. Part of intraciliary transport particle A. Is expressed in choroid plexus; dorsal root ganglion; genitourinary system; olfactory epithelium; and pituitary gland. Human ortholog(s) of this gene implicated in cranioectodermal dysplasia 1. Orthologous to human IFT122 (intraflagellar transport 122). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 41.9), ovary adult (RPKM 9.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E3; 6 53.72 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (115830340..115903660)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (115853379..115926699)

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
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?

The C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state.
Title: C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.
Data show that IFT122 controls the ciliary localization of Shh pathway regulators in different ways.
Title: Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.
Studies on a complex A mutant mouse, defective for the Ift122 gene, is reported.
Title: Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.

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Variation

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Alleles

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

Targeted (2) 1 citation
Chemically induced (ENU) (2) 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

Process	Evidence Code	Pubs
involved_in camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IGI Inferred from Genetic Interaction 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 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
involved_in embryonic body morphogenesis	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 embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary anterograde transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary retrograde transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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 keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction 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 smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to cilium	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within receptor clustering	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
involved_in spinal cord dorsal/ventral patterning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
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
located_in ciliary base	IDA Inferred from Direct Assay more info	PubMed
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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of intraciliary transport particle A	IBA Inferred from Biological aspect of Ancestor more info
part_of intraciliary transport particle A	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle A	ISO Inferred from Sequence Orthology more info
is_active_in non-motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport protein 122 homolog

Names: WD repeat domain 10; WD repeat-containing protein 10; intraflagellar transport 122 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_001167763.1 → NP_001161235.1 intraflagellar transport protein 122 homolog isoform 2

See identical proteins and their annotated locations for NP_001161235.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is one aa shorter compared to isoform 1.

Source sequence(s)

AK167412, BY085672, CO043683

Consensus CDS

CCDS51880.1

UniProtKB/Swiss-Prot

Q6KAU2, Q6NWV3, Q8C8U5, Q8CD77

Related

ENSMUSP00000108547.2, ENSMUST00000112925.8

Conserved Domains (3) summary

COG2319
Location:15 → 289

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 51

7WD40; WD40 repeat [structural motif]

cl02567
Location:15 → 290

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 ...
NM_031177.4 → NP_112454.2 intraflagellar transport protein 122 homolog isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK044456, AK167412, BY085672, CO043683

Consensus CDS

CCDS20445.1

UniProtKB/Swiss-Prot

Q6NWV3

Related

ENSMUSP00000045468.7, ENSMUST00000038234.13

Conserved Domains (3) summary

COG2319
Location:15 → 289

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 51

7WD40; WD40 repeat [structural motif]

cl02567
Location:15 → 290

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_000072.7 Reference GRCm39 C57BL/6J

Range

115830340..115903660

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506799.4 → XP_006506862.1 intraflagellar transport protein 122 homolog isoform X3

Conserved Domains (3) summary

TIGR02917
Location:560 → 803

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00039
Location:133 → 167

7WD40; WD40 repeat [structural motif]

cl29593
Location:134 → 200

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_036152411.1 → XP_036008304.1 intraflagellar transport protein 122 homolog isoform X4

Conserved Domains (3) summary

TIGR02917
Location:501 → 744

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00039
Location:30 → 67

7WD40; WD40 repeat [structural motif]

cl29593
Location:24 → 142

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_006506797.3 → XP_006506860.1 intraflagellar transport protein 122 homolog isoform X1

Conserved Domains (3) summary

TIGR02917
Location:710 → 953

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00039
Location:15 → 51

7WD40; WD40 repeat [structural motif]

cl29593
Location:15 → 190

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_006506798.3 → XP_006506861.1 intraflagellar transport protein 122 homolog isoform X2

UniProtKB/TrEMBL

E9Q9G8

Related

ENSMUSP00000108545.3, ENSMUST00000112923.7

Conserved Domains (3) summary

TIGR02917
Location:710 → 900

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00039
Location:15 → 51

7WD40; WD40 repeat [structural motif]

cl29593
Location:15 → 190

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_036152410.1 → XP_036008303.1 intraflagellar transport protein 122 homolog isoform X3

Conserved Domains (3) summary

TIGR02917
Location:560 → 803

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00039
Location:133 → 167

7WD40; WD40 repeat [structural motif]

cl29593
Location:134 → 200

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 ...