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Ift43 intraflagellar transport 43 [ Mus musculus (house mouse) ]

Gene ID: 76411, updated on 5-Mar-2024

Summary

Official Symbol
Ift43provided by MGI
Official Full Name
intraflagellar transport 43provided by MGI
Primary source
MGI:MGI:1923661
See related
Ensembl:ENSMUSG00000007867 AllianceGenome:MGI:1923661
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
1700019E19Rik
Summary
Predicted to be involved in cilium assembly and intraciliary retrograde transport. Predicted to act upstream of or within cell projection organization. Located in cilium. Part of intraciliary transport particle A. Is expressed in several structures, including cardiovascular system; endocrine gland; genitourinary system; mesenteric lymph node; and nervous system. Human ortholog(s) of this gene implicated in cranioectodermal dysplasia 3; retinitis pigmentosa 81; and short-rib thoracic dysplasia 18 with polydactyly. Orthologous to human IFT43 (intraflagellar transport 43). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 10.6), CNS E11.5 (RPKM 4.4) and 23 other tissues See more
Orthologs
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Genomic context

See Ift43 in Genome Data Viewer
Location:
12 D2; 12 40.16 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (86129335..86209233)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (86082561..86162459)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase-like family, member 5 Neighboring gene predicted gene, 51989 Neighboring gene predicted gene, 37804 Neighboring gene transforming growth factor, beta 3 Neighboring gene STARR-seq mESC enhancer starr_32794 Neighboring gene STARR-seq mESC enhancer starr_32801 Neighboring gene predicted gene 805 Neighboring gene predicted gene, 32473 Neighboring gene STARR-positive B cell enhancer ABC_E742 Neighboring gene predicted gene, 40481 Neighboring gene G patch domain containing 2 like

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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (3) 

Pathways from PubChem

General gene information

Markers

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
 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in cilium assembly NAS
Non-traceable Author Statement
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 
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 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centriolar satellite ISO
Inferred from Sequence Orthology
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cilium IC
Inferred by Curator
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 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 microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
intraflagellar transport protein 43 homolog
Names
intraflagellar transport 43 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_001199843.1NP_001186772.1  intraflagellar transport protein 43 homolog isoform 1

    See identical proteins and their annotated locations for NP_001186772.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC134328, BE987571, CF751010
    Consensus CDS
    CCDS88375.1
    UniProtKB/Swiss-Prot
    Q8CFI3, Q8K213, Q9DA69
    Related
    ENSMUSP00000152079.2, ENSMUST00000222821.2
    Conserved Domains (1) summary
    pfam15305
    Location:73190
    IFT43; Intraflagellar transport protein 43
  2. NM_029601.3NP_083877.1  intraflagellar transport protein 43 homolog isoform 2

    See identical proteins and their annotated locations for NP_083877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC134328, AK006115, BE987571
    Consensus CDS
    CCDS26064.1
    UniProtKB/Swiss-Prot
    Q9DA69
    Related
    ENSMUSP00000061891.7, ENSMUST00000054565.8
    Conserved Domains (1) summary
    pfam15305
    Location:71179
    IFT43; Intraflagellar transport protein 43

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_000078.7 Reference GRCm39 C57BL/6J

    Range
    86129335..86209233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)