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

Gene ID: 106633, updated on 6-Jun-2024

Summary

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
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Genomic context

See Ift140 in Genome Data Viewer
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

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

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

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_001410317.1NP_001397246.1  intraflagellar transport protein 140 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    UniProtKB/TrEMBL
    A0A3B2W3F6
  2. NM_001410318.1NP_001397247.1  intraflagellar transport protein 140 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    UniProtKB/TrEMBL
    A0A3B2W3F6
  3. NM_001410319.1NP_001397248.1  intraflagellar transport protein 140 homolog isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    UniProtKB/Swiss-Prot
    B2RSU5, E9PY46, Q2XQY6
    UniProtKB/TrEMBL
    A0A3B2W3F6
  4. NM_001410320.1NP_001397249.1  intraflagellar transport protein 140 homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
    UniProtKB/TrEMBL
    A0A3B2W3F6
  5. NM_001410321.1NP_001397250.1  intraflagellar transport protein 140 homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC130711, AC154229
  6. NM_134126.4NP_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:8321092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1957
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:10471228
    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_006523403.5XP_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:8321092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1957
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:10471228
    Nic96; Nup93/Nic96
  2. XM_006523404.4XP_006523467.1  intraflagellar transport protein 140 homolog isoform X2

    UniProtKB/TrEMBL
    A0A3B2W3F6
    Related
    ENSMUSP00000116163.2, ENSMUST00000137386.8
    Conserved Domains (4) summary
    COG0457
    Location:8321092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG2319
    Location:86437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1957
    7WD40; WD40 repeat [structural motif]
    pfam04097
    Location:10471228
    Nic96; Nup93/Nic96
  3. XM_006523408.5XP_006523471.1  intraflagellar transport protein 140 homolog isoform X5

    Conserved Domains (3) summary
    COG2319
    Location:86437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1957
    7WD40; WD40 repeat [structural motif]
    pfam12928
    Location:455506
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term
  4. XM_006523407.5XP_006523470.1  intraflagellar transport protein 140 homolog isoform X4

    Conserved Domains (2) summary
    COG2319
    Location:86437
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1957
    7WD40; WD40 repeat [structural motif]