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    IFT43 intraflagellar transport 43 [ Homo sapiens (human) ]

    Gene ID: 112752, updated on 8-Jul-2021

    Summary

    Official Symbol
    IFT43provided by HGNC
    Official Full Name
    intraflagellar transport 43provided by HGNC
    Primary source
    HGNC:HGNC:29669
    See related
    Ensembl:ENSG00000119650 MIM:614068
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CED3; RP81; SRTD18; C14orf179
    Summary
    This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in testis (RPKM 8.4), thyroid (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IFT43 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (75985763..76084073)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76452106..76550416)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase like 5 Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene VISTA enhancer hs2157 Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene transforming growth factor beta 3 Neighboring gene uncharacterized LOC105370573 Neighboring gene G-patch domain containing 2 like Neighboring gene uncharacterized LOC105370575 Neighboring gene Sharpr-MPRA regulatory region 6100

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    Associated conditions

    Description Tests
    Cranioectodermal dysplasia 3
    MedGen: C3279807 OMIM: 614099 GeneReviews: Cranioectodermal Dysplasia
    Compare labs
    Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
    GeneReviews: Not available
    Retinitis pigmentosa 81
    MedGen: C4693443 OMIM: 617871 GeneReviews: Not available
    Compare labs
    Short-rib thoracic dysplasia 18 with polydactyly
    MedGen: C4693420 OMIM: 617866 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: TTLL5

    Homology

    Clone Names

    • FLJ32173, MGC16028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    intraflagellar transport protein 43 homolog
    Names
    IFT complex A subunit
    intraflagellar transport 43 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031957.1 RefSeqGene

      Range
      5011..102990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001102564.3NP_001096034.1  intraflagellar transport protein 43 homolog isoform 2

      See identical proteins and their annotated locations for NP_001096034.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains two alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC008015, AF107885
      Consensus CDS
      CCDS41973.1
      UniProtKB/Swiss-Prot
      Q96FT9
      Related
      ENSP00000324177.6, ENST00000314067.11
      Conserved Domains (1) summary
      pfam15305
      Location:67193
      IFT43; Intraflagellar transport protein 43
    2. NM_001255995.3NP_001242924.1  intraflagellar transport protein 43 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AW235031, BC042852, BU627157, DB443802
      Consensus CDS
      CCDS58330.1
      UniProtKB/Swiss-Prot
      Q96FT9
      Related
      ENSP00000451096.1, ENST00000556742.1
    3. NM_052873.3NP_443105.2  intraflagellar transport protein 43 homolog isoform 1

      See identical proteins and their annotated locations for NP_443105.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK056735, BC010436, DB443802
      Consensus CDS
      CCDS9847.1
      UniProtKB/Swiss-Prot
      Q96FT9
      UniProtKB/TrEMBL
      A0A024R6A9
      Related
      ENSP00000238628.6, ENST00000238628.10
      Conserved Domains (1) summary
      pfam15305
      Location:74198
      IFT43; Intraflagellar transport protein 43

    RNA

    1. NR_045664.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon and uses an alternate splice site in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302944, BI821833, DB443802
    2. NR_045665.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an internal exon, contains two alternate internal exons and uses an alternate splice site in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302944, CB853974, DB443802

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      75985763..76084073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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