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IFT43 Gene

protein-coding   GIFtS: 44
GCID: GC14P076368

Intraflagellar Transport 43 Homolog (Chlamydomonas)

(Previous name: chromosome 14 open reading frame 179)
(Previous symbol: C14orf179)
  See IFT43-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Intraflagellar Transport 43 Homolog (Chlamydomonas)1 2
C14orf1791 2 3 5
CED32 5
Chromosome 14 Open Reading Frame 1791
IFT Complex A Subunit2
Intraflagellar Transport Protein 43 Homolog2

External Ids:    HGNC: 296691   Entrez Gene: 1127522   Ensembl: ENSG000001196507   OMIM: 6140685   UniProtKB: Q96FT93   

Export aliases for IFT43 gene to outside databases

Previous GC identifer: GC14P076453


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFT43 Gene:
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)

GeneCards Summary for IFT43 Gene:
IFT43 (intraflagellar transport 43 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT43 include cranioectodermal dysplasia 3, and sensenbrenner syndrome.

UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9
Function: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the
ciliary tip to the base




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for IFT43
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for IFT43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFT43


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

IFT43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT43 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P076368:  view genomic region     (about GC identifiers)

Start:
76,368,479 bp from pter      End:
76,550,928 bp from pter
Size:
182,450 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9 (See protein sequence)
Recommended Name: Intraflagellar transport protein 43 homolog  
Size: 208 amino acids; 23529 Da
Subunit: Component of the IFT complex A (IFT-A) complex (Probable). Interacts with WDR35/IFT121
Secondary accessions: B3KPT6 B4DZI9 G3V385 O95418 Q9ULA9
Alternative splicing: 4 isoforms:  Q96FT9-1   Q96FT9-2   Q96FT9-3   Q96FT9-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for IFT43: NX_Q96FT9

Explore proteomics data for IFT43 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys159
  • Modification sites at PhosphoSitePlus

  • See IFT43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001096034.1  NP_001242924.1  NP_443105.2  

    ENSEMBL proteins: 
     ENSP00000440064   ENSP00000452051   ENSP00000238628   ENSP00000451096   ENSP00000324177  

    IFT43 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for IFT43

     
    Search eBioscience for Proteins for IFT43 

     
    antibodies-online proteins for IFT43 (6 products) 

     
    Search antibodies-online for peptides for IFT43

    IFT43 Antibody Products:

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    antibodies-online antibodies for IFT43 (22 products) 

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    antibodies-online kits for IFT43 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFT: Intraflagellar transport homologs

    ProtoNet protein and cluster: Q96FT9

    UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9
    Similarity: Belongs to the IFT43 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IFT43_HUMAN, Q96FT9
    Function: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the
    ciliary tip to the base

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for IFT43

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT43


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IFT43_HUMAN, Q96FT9: Cytoplasm, cytoskeleton. Note=Associated with microtubules

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IDA--
    GO:0005856cytoskeleton ----
    GO:0015630microtubule cytoskeleton IDA--
    GO:0030991intraciliary transport particle A IDA--

    Find genes that share ontologies with IFT43           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IFT43
    Interactions:

        Search GeneGlobe Interaction Network for IFT43

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for IFT43 (ENSP000002386284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035721intraciliary retrograde transport IMP--
    GO:0060271cilium morphogenesis IMP--

    Find genes that share ontologies with IFT43           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFT43



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IFT43 gene (3 alternative transcripts): 
    NM_001102564.1  NM_001255995.1  NM_052873.2  

    Unigene Cluster for IFT43:

    Intraflagellar transport 43 homolog (Chlamydomonas)
    Hs.532626  [show with all ESTs]
    Unigene Representative Sequence: NR_045665
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555677 ENST00000542766 ENST00000554026(uc001xsf.2 uc010asl.1)
    ENST00000555305(uc010tve.2) ENST00000555370 ENST00000238628(uc001xsg.2)
    ENST00000556742(uc001xse.2) ENST00000553338 ENST00000553438 ENST00000554423
    ENST00000554233 ENST00000314067(uc010asm.1)
    miRNA
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    Additional mRNA sequence: 

    AK302944.1 BC010436.1 BC042852.1 NR_045664.1 NR_045665.1 

    20 DOTS entries:

    DT.100818650  DT.92423047  DT.99943206  DT.95168763  DT.453120  DT.100818648  DT.75100123  DT.92423044 
    DT.97822560  DT.116112  DT.120752694  DT.92423042  DT.95168761  DT.100818649  DT.120752834  DT.40107589 
    DT.86859238  DT.92423046  DT.120752673  DT.97769040 

    Selected AceView cDNA sequences (see all 269):

    AL701771 BQ025134 AI371151 BM987472 BE300684 AU131383 BE501103 BU622374 
    AB023215 AL110381 AW084180 BM457163 AI024405 AW026445 AW519293 CB850999 
    CB144357 BC016625 CB850878 BM542939 AL041561 AI863892 CA392350 BX647530 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IFT43 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12
    SP1:              -     -     -                 -     -           -           -                                                         
    SP2:              -     -     -                 -     -           -                                                                     
    SP3:              -     -     -                 -     -     -     -     -                                                               
    SP4:                    -     -                 -     -           -           -                                                         
    SP5:              -     -     -                 -     -           -           -                                                         


    ECgene alternative splicing isoforms for IFT43

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IFT43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAATGCA
    IFT43 Expression
    About this image

    IFT43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFT43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532626
        Custom PCR Arrays for IFT43
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for IFT43 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift431 , 5 RIKEN cDNA 1700019E19 gene5
    intraflagellar transport 43 homolog (Chlamydomonas)1
    75.99(n)1
    73.06(a)1
      12 (40.16 cM)5
    764111  NM_001199843.11  NP_001186772.11 
     860825615 
    chicken
    (Gallus gallus)
    Aves IFT431 intraflagellar transport 43 homolog (Chlamydomonas) 66.85(n)
    64.04(a)
      771922  XM_003641301.2  XP_003641349.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT436
    intraflagellar transport 43 homolog (Chlamydomonas...
    50(a)
    1 ↔ 1
    1(21902728-21983559)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ift431 intraflagellar transport 43 homolog (Chlamydomonas) 59.74(n)
    57.87(a)
      549289  NM_001016535.1  NP_001016535.1 
    zebrafish
    (Danio rerio)
    Actinopterygii IFT436
    intraflagellar transport 43 homolog (Chlamydomonas...
    64(a)
    1 ↔ 1
    17(52648633-52649749) ENSDARG00000087273
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57806
    --
    24(a)
    1 ↔ 1
    2L(12693872-12694982)


    ENSEMBL Gene Tree for IFT43 (if available)
    TreeFam Gene Tree for IFT43 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IFT43 (see all 2155)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939210951,2
    C,Funtested157438276(+) GACTTA/G/TGACGA 8 L F mis11EU 1135
    rs113237021,2
    C--56623535(+) TCATC-/TTTTTT 5 -- int1 trp31Minor allele frequency- T:0.00CSA 2
    rs355607081,2
    C--56662570(+) GTCTC-/AAAAAA 5 -- int10--------
    rs610002081,2
    --56684331(+) GTGTGG/TTTTTT 5 -- int10--------
    rs116269371,2
    A,H--56685697(+) AGAGGC/GCTAAA 5 -- int10--------
    rs355134011,2
    C--56695409(+) TTTTTT/-AGACA 4 -- int11Minor allele frequency- -:0.50NA 2
    rs1452020571,2
    C--56695705(+) CCTTT-/CTTC  
            
    CTTCC
    4 -- int10--------
    rs1379166261,2
    C--56717332(+) TAGTG-/GACCTT
            
    GATGT
    4 -- int10--------
    rs571993751,2
    C--56717334(+) GTGGA-/CCTTGA
            
    TGTCA
    4 -- int10--------
    rs1119498531,2
    C--56717337(+) GACCTG/TGATGT 4 -- int10--------

    HapMap Linkage Disequilibrium report for IFT43 (76368479 - 76550928 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IFT43:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675014CNV Deletion23128226
    nsv1360CNV Loss18451855
    nsv902101CNV Loss21882294
    nsv7256OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): IFT43
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFT43
    DNA2.0 Custom Variant and Variant Library Synthesis for IFT43

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614068   
    OMIM disorders: 614099  
    UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9
  • Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: A disorder primarily characterized by craniofacial,
    skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs,
    brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis
    leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been
    described. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for IFT43:    
    About MalaCards
    cranioectodermal dysplasia 3    sensenbrenner syndrome    cranioectodermal dysplasia 1


    Find genes that share disorders with IFT43           About GenesLikeMe


    Export disorders for IFT43 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFT43 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with IFT43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. (PubMed id 21378380)1, 2, 3 Arts H.H.... Roepman R. (J. Med. Genet. 2011)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    5. Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. (PubMed id 22361696)2 Stadler C.... Lundberg E. (J. Proteomics 2012)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PubMed id 20889716)2 Mukhopadhyay S....Jackson P.K. (Genes Dev. 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 112752 HGNC: 29669 AceView: KIAA0998 Ensembl:ENSG00000119650 euGenes: HUgn112752
    ECgene: IFT43 H-InvDB: IFT43

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFT43 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFT43 gene:
    Search GeneIP for patents involving IFT43

    GeneCards and IP:
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