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Aliases for IFT43 Gene

Aliases for IFT43 Gene

  • Intraflagellar Transport 43 2 3
  • C14orf179 3 4 6
  • CED3 3 6
  • Intraflagellar Transport 43 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 43 Homolog 3
  • Chromosome 14 Open Reading Frame 179 2
  • Intraflagellar Transport 43 Homolog 3
  • IFT Complex A Subunit 3

External Ids for IFT43 Gene

Previous HGNC Symbols for IFT43 Gene

  • C14orf179

Previous GeneCards Identifiers for IFT43 Gene

  • GC14P076453
  • GC14P076368

Summaries for IFT43 Gene

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) is a Protein Coding gene. Diseases associated with IFT43 include cranioectodermal dysplasia 3 and cranioectodermal dysplasia 1.

UniProtKB/Swiss-Prot for IFT43 Gene

  • Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT43 Gene

Genomics for IFT43 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IFT43 Gene

Start:
75,902,136 bp from pter
End:
76,084,585 bp from pter
Size:
182,450 bases
Orientation:
Plus strand

Genomic View for IFT43 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFT43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT43 Gene

No data available for Regulatory Elements for IFT43 Gene

Proteins for IFT43 Gene

  • Protein details for IFT43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FT9-IFT43_HUMAN
    Recommended name:
    Intraflagellar transport protein 43 homolog
    Protein Accession:
    Q96FT9
    Secondary Accessions:
    • B3KPT6
    • B4DZI9
    • G3V385
    • O95418
    • Q9ULA9

    Protein attributes for IFT43 Gene

    Size:
    208 amino acids
    Molecular mass:
    23529 Da
    Quaternary structure:
    • Component of the IFT complex A (IFT-A) complex (Probable). Interacts with WDR35/IFT121.

    Alternative splice isoforms for IFT43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT43 Gene

Proteomics data for IFT43 Gene at MOPED

Post-translational modifications for IFT43 Gene

  • Ubiquitination at Lys159
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT43 Gene

No data available for DME Specific Peptides for IFT43 Gene

Domains for IFT43 Gene

Gene Families for IFT43 Gene

HGNC:
  • IFT :Intraflagellar transport homologs

Protein Domains for IFT43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FT9

UniProtKB/Swiss-Prot:

IFT43_HUMAN :
  • Q96FT9
Family:
  • Belongs to the IFT43 family.
genes like me logo Genes that share domains with IFT43: view

Function for IFT43 Gene

Molecular function for IFT43 Gene

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

Gene Ontology (GO) - Molecular Function for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with IFT43: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFT43

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for IFT43 Gene

Localization for IFT43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT43 Gene

Cytoplasm, cytoskeleton. Note=Associated with microtubules.

Gene Ontology (GO) - Cellular Components for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0030991 intraciliary transport particle A IDA 20889716
GO:0072372 primary cilium TAS --
genes like me logo Genes that share ontologies with IFT43: view

No data available for Subcellular locations from COMPARTMENTS for IFT43 Gene

Pathways for IFT43 Gene

SuperPathways for IFT43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0035721 intraciliary retrograde transport IMP 21378380
GO:0060271 cilium morphogenesis IMP 21378380
genes like me logo Genes that share ontologies with IFT43: view

No data available for Pathways by source for IFT43 Gene

Transcripts for IFT43 Gene

Unigene Clusters for IFT43 Gene

Intraflagellar transport 43 homolog (Chlamydomonas):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFT43

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for IFT43

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT43 Gene

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: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - -
SP10: - - - -
SP11: - -
SP12:

Relevant External Links for IFT43 Gene

GeneLoc Exon Structure for
IFT43
ECgene alternative splicing isoforms for
IFT43

Expression for IFT43 Gene

mRNA expression in normal human tissues for IFT43 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFT43 Gene

SOURCE GeneReport for Unigene cluster for IFT43 Gene Hs.532626

genes like me logo Genes that share expressions with IFT43: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IFT43 Gene

Orthologs for IFT43 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT43 35
  • 99.22 (n)
  • 99.53 (a)
IFT43 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IFT43 35
  • 78.1 (n)
  • 72.95 (a)
IFT43 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT43 35
  • 76.38 (n)
  • 69.9 (a)
IFT43 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift43 35
  • 75.99 (n)
  • 73.06 (a)
Ift43 16
Ift43 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFT43 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT43 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ift43 35
  • 76.27 (n)
  • 73.3 (a)
chicken
(Gallus gallus)
Aves IFT43 35
  • 66.85 (n)
  • 64.04 (a)
IFT43 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT43 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift43 35
  • 59.74 (n)
  • 57.87 (a)
zebrafish
(Danio rerio)
Actinopterygii IFT43 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5780 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for IFT43:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IFT43 Gene

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

Paralogs for IFT43 Gene

No data available for Paralogs for IFT43 Gene

Variants for IFT43 Gene

Sequence variations from dbSNP and Humsavar for IFT43 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs8536 -- 76,083,409(+) CAGTT(A/G)AGGGA intron-variant
rs721979 -- 76,041,491(-) GACCC(C/T)GGCAA intron-variant
rs741512 -- 76,080,667(-) GACAG(A/G)GAGGA intron-variant
rs741513 -- 76,084,149(+) CTGCA(A/G)TCCAT downstream-variant-500B
rs741514 -- 76,084,301(+) TACGT(C/T)GCAGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for IFT43 Gene

Variant ID Type Subtype PubMed ID
nsv902101 CNV Loss 21882294
nsv1360 CNV Loss 18451855
nsv7256 OTHER Inversion 18451855
esv2675014 CNV Deletion 23128226

Relevant External Links for IFT43 Gene

HapMap Linkage Disequilibrium report
IFT43
Human Gene Mutation Database (HGMD)
IFT43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT43 Gene

Disorders for IFT43 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for IFT43 Gene including...

Search for IFT43 Gene in MalaCards »

(1) OMIM Diseases for IFT43 Gene (614068)

UniProtKB/Swiss-Prot

IFT43_HUMAN
  • 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. {ECO:0000269 PubMed:21378380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IFT43: view

Publications for IFT43 Gene

  1. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. (PMID: 21378380) Arts H.H. … Roepman R. (J. Med. Genet. 2011) 2 3 4
  2. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PMID: 20889716) Mukhopadhyay S. … Jackson P.K. (Genes Dev. 2010) 3 4

Products for IFT43 Gene

Sources for IFT43 Gene

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