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Ift140 intraflagellar transport 140 [ Mus musculus (house mouse) ]

Gene ID: 106633, updated on 21-Apr-2024

Summary

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Official Symbol
Ift140provided by MGI
Official Full Name
intraflagellar transport 140provided by MGI
Primary source
MGI:MGI:2146906
See related
Ensembl:ENSMUSG00000024169 AllianceGenome:MGI:2146906
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
Tce5; Wdtc2; mKIAA0590
Summary
Acts upstream of or within several processes, including cilium organization; embryonic organ development; and nervous system development. Located in cytoskeleton and photoreceptor cell cilium. Part of intraciliary transport particle A. Is expressed in diaphragm; lung; metanephros; and retina. Used to study asphyxiating thoracic dystrophy 1 and short-rib thoracic dysplasia 9 with or without polydactyly. Human ortholog(s) of this gene implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly. Orthologous to human IFT140 (intraflagellar transport 140). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 39.8), liver E14.5 (RPKM 18.4) and 23 other tissues See more
Orthologs
human all
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Genomic context

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Location:
17 A3.3; 17 12.53 cM
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25235056..25318461)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25016083..25099499)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1500 Neighboring gene Jupiter microtubule associated homolog 2 Neighboring gene cramped chromatin regulator 1 Neighboring gene STARR-positive B cell enhancer ABC_E396 Neighboring gene STARR-positive B cell enhancer ABC_E11631 Neighboring gene transmembrane protein 204 Neighboring gene telomere maintenance 2 Neighboring gene pentraxin 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The role of IFT140 in early bone healing of tooth extraction sockets. Zhou S, et al. Oral Dis, 2022 May. PMID 33682229
  2. Expression of IFT140 During Bone Development. Zhang C, et al. J Histochem Cytochem, 2019 Oct. PMID 31238004, Free PMC Article
  3. Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice. Zhang Y, et al. Cytoskeleton (Hoboken), 2018 Feb. PMID 29236364, Free PMC Article
  4. Essential Role of IFT140 in Promoting Dentinogenesis. Li G, et al. J Dent Res, 2018 Apr. PMID 29195058
  5. Lineage tracing of cells expressing the ciliary gene IFT140 during bone development. Chen Y, et al. Dev Dyn, 2021 Apr. PMID 33095947

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of IFT140 in early bone healing of tooth extraction sockets.
    Title: The role of IFT140 in early bone healing of tooth extraction sockets.
  2. Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E.
    Title: Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E.
  3. Lineage tracing of cells expressing the ciliary gene IFT140 during bone development.
    Title: Lineage tracing of cells expressing the ciliary gene IFT140 during bone development.
  4. results showed that, compared with many soft tissues,intraflagellar transport 140 (mRNA level) was highly expressed in bone
    Title: Expression of IFT140 During Bone Development.
  5. In a mouse model, results suggest that cilia gene IFT140 is essential in promoting dentin formation and reparation.
    Title: Essential Role of IFT140 in Promoting Dentinogenesis.
  6. findings demonstrate that IFT140 is a key regulator for male fertility and normal spermiogenesis in mice. It not only plays a role in sperm flagella assembling, but is also involved in critical assembly of proteins that interface between the germ cell plasma and the Sertoli cell.
    Title: Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.
  7. This work is a strong support of a model of opsin transport where, once at the base of the cilium, the opsin is carried through the connecting cilium by an IFT complex that includes IFT140
    Title: Distinct functions for IFT140 and IFT20 in opsin transport.
  8. We have identified a novel ENU mutant allele of Ift140, which causes a mid-gestation embryonic lethal phenotype in homozygous mutant mice.We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.
    Title: Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC170632

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic camera-type eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic cranial skeleton 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 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within intraciliary retrograde transport IC
Inferred by Curator
more info
 PubMed 
acts_upstream_of_or_within intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport ISO
Inferred from Sequence Orthology
more info
  
involved_in intraciliary retrograde transport NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within intraciliary transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural tube patterning 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 photoreceptor cell outer segment organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein localization to cilium ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cilium assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of smoothened signaling pathway 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 axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
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 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
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 
located_in cone photoreceptor outer segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
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 140 homolog
Names
T-complex expressed gene 5
WD and tetratricopeptide repeats 2
WD and tetratricopeptide repeats protein 2
intraflagellar transport 140 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)

  1. NM_001410317.1 → NP_001397246.1  intraflagellar transport protein 140 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229

  2. NM_001410318.1 → NP_001397247.1  intraflagellar transport protein 140 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229

  3. NM_001410319.1 → NP_001397248.1  intraflagellar transport protein 140 homolog isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    UniProtKB/Swiss-Prot
    B2RSU5, E9PY46, Q2XQY6

  4. NM_001410320.1 → NP_001397249.1  intraflagellar transport protein 140 homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229

  5. NM_001410321.1 → NP_001397250.1  intraflagellar transport protein 140 homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229

  6. NM_134126.4 → NP_598887.3  intraflagellar transport protein 140 homolog isoform 1

    See identical proteins and their annotated locations for NP_598887.3

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    Consensus CDS
    CCDS28505.1
    UniProtKB/Swiss-Prot
    B2RSU5, E9PY46, Q2XQY6
    UniProtKB/TrEMBL
    A0A3B2W3F6
    Related
    ENSMUSP00000024983.6, ENSMUST00000024983.12
    Conserved Domains (4) summary
    COG0457
    Location:832 → 1092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86 → 437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:19 → 57
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:1047 → 1228
    Nic96; Nup93/Nic96

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_000083.7 Reference GRCm39 C57BL/6J

    Range
    25235056..25318461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523403.5 → XP_006523466.1  intraflagellar transport protein 140 homolog isoform X1

    See identical proteins and their annotated locations for XP_006523466.1

    UniProtKB/Swiss-Prot
    B2RSU5, E9PY46, Q2XQY6
    UniProtKB/TrEMBL
    A0A3B2W3F6
    Conserved Domains (4) summary
    COG0457
    Location:832 → 1092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86 → 437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:19 → 57
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:1047 → 1228
    Nic96; Nup93/Nic96

  2. XM_006523404.4 → XP_006523467.1  intraflagellar transport protein 140 homolog isoform X2

    UniProtKB/TrEMBL
    A0A3B2W3F6
    Related
    ENSMUSP00000116163.2, ENSMUST00000137386.8
    Conserved Domains (4) summary
    COG0457
    Location:832 → 1092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86 → 437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:19 → 57
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:1047 → 1228
    Nic96; Nup93/Nic96

  3. XM_006523408.5 → XP_006523471.1  intraflagellar transport protein 140 homolog isoform X5

    Conserved Domains (3) summary
    COG2319
    Location:86 → 437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:19 → 57
    7WD40; WD40 repeat [structural motif]
    pfam12928
    Location:455 → 506
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term

  4. XM_006523407.5 → XP_006523470.1  intraflagellar transport protein 140 homolog isoform X4

    Conserved Domains (2) summary
    COG2319
    Location:86 → 437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:19 → 57
    7WD40; WD40 repeat [structural motif]
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9PY46.1 GenPept UniProtKB/Swiss-Prot:E9PY46

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