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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IFT43 Gene

protein-coding   GIFtS: 43
GCID: GC14P076368

Intraflagellar Transport 43 Homolog (Chlamydomonas)

(Previous name: chromosome 14 open reading frame 179)
(Previous symbol: C14orf179)
  See 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)
About This Section

Aliases
Intraflagellar Transport 43 Homolog (Chlamydomonas)1 2
C14orf1791 2 3
Chromosome 14 Open Reading Frame 1791
CED32
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IFT43
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton. Note=Associated with microtubules
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FT9

  • IFT43 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IFT43 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001096034.1  NP_001242924.1  NP_443105.2  

    ENSEMBL proteins: 
     ENSP00000440064   ENSP00000452051   ENSP00000238628   ENSP00000451096   ENSP00000324177  

    Human Recombinant Protein Products for IFT43: 
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    Novus Biologicals IFT43 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IFT43 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0030991intraflagellar transport particle A IDA--

    IFT43 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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:

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    IFT43 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IFT43

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    SwitchGear 3'UTR luciferase reporter plasmidIFT43 3' UTR sequence
    Inhib. RNA
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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 

    24/269 AceView cDNA sequences (see all 269):

    BE300684 CR533554 AA862573 BE742565 BU622374 BE501103 AU131383 AW084180 
    BU629473 AA935929 AI341875 BQ045470 BM542939 AW519293 BQ941146 BQ025134 
    BX647530 AI091720 AL110381 AW500639 AL136808 BF733027 AI863892 AY237126 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See IFT43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFT43

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT43

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IFT43 gene from 5/12 species (see all 12)    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
    76.14(n)1
    73.53(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_003641301.1  XP_003641349.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT436
    intraflagellar transport 43 homolog (Chlamydomonas...
    52(a)
    1 ↔ 1
    1(21902728-21983559)
    zebrafish
    (Danio rerio)
    Actinopterygii IFT436
    intraflagellar transport 43 homolog (Chlamydomonas...
    60(a)
    1 ↔ 1
    17(52648633-52649749)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57801 CG5780 47.59(n)
    32.47(a)
      34676  NM_135737.3  NP_609581.3 


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2155 SNPs in IFT43 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614068    OMIM disorders: --

    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

  • 8 diseases for IFT43:    About MalaCards
    cranioectodermal dysplasia 3    sensenbrenner syndrome    nephronophthisis    craniosynostosis
    brachydactyly    retinitis pigmentosa    retinitis    hepatitis


    IFT43 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for IFT43 gene, integrated from 9 sources (see all 14):
    (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. (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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    5. Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. (PubMed id 22361696)2 Stadler C.... Lundberg E. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. 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. (2010)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. SnapShot: Intraflagellar transport. (PubMed id 19450523)2 Cole D.G. and Snell W.J. (2009)

    (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)
    About This Section
    Entrez Gene: 112752 HGNC: 29669 AceView: KIAA0998 Ensembl:ENSG00000119650 euGenes: HUgn112752
    ECgene: IFT43 H-InvDB: IFT43

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for IFT43 gene:
    Search GeneIP for patents involving IFT43

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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