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... See more...

Aliases for IFT43 Gene

Aliases for IFT43 Gene

  • Intraflagellar Transport 43 2 3 5
  • Intraflagellar Transport Protein 43 Homolog 3 4
  • C14orf179 3 4
  • Intraflagellar Transport 43 Homolog (Chlamydomonas) 2
  • Chromosome 14 Open Reading Frame 179 2
  • Intraflagellar Transport 43 Homolog 3
  • IFT Complex A Subunit 3
  • SRTD18 3
  • CED3 3
  • RP81 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 Short-Rib Thoracic Dysplasia 18 With Polydactyly and Cranioectodermal Dysplasia 3. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot Summary for IFT43 Gene

  • As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380).

Additional gene information for IFT43 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFT43 Gene

Genomics for IFT43 Gene

GeneHancer (GH) Regulatory Elements for IFT43 Gene

Promoters and enhancers for IFT43 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J075977 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 510.6 +80.5 80502 9.5 ZBTB40 ZNF217 CTCF SIN3A NRF1 USF1 SP1 PHF8 JUND TEAD4 IFT43 TGFB3 lnc-TGFB3-4 ESRRB TGFB3-AS1
GH14J075902 Promoter 0.3 EPDnew 500.7 0.0 -3 0.1 IFT43 TTLL5 ENSG00000259103
GH14J075992 Enhancer 1.5 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 19.3 +92.8 92845 4.6 BCL11A NR2F2 CTCF BATF MAFK IRF4 IKZF1 PAX5 RXRA JUNB IFT43 FLVCR2 TTLL5 piR-38580-089 lnc-TGFB3-4 TGFB3
GH14J075249 Promoter/Enhancer 2.6 VISTA FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.5 -647.1 -647094 12 EP300 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 USF1 SP1 NEK9 IFT43 FOS ABCD4 ENSG00000258740 YLPM1 ENSG00000258820 hsa-miR-5095-136
GH14J075877 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -23.8 -23849 4.6 CTCF JUND FOS NFYB TCF12 CBFB USF2 SRF FOSL2 JUN FLVCR2 IFT43 TTLL5 TGFB3 BATF ENSG00000259103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFT43

Genomic Locations for IFT43 Gene

Genomic Locations for IFT43 Gene
chr14:75,902,136-76,084,585
(GRCh38/hg38)
Size:
182,450 bases
Orientation:
Plus strand
chr14:76,368,479-76,550,928
(GRCh37/hg19)
Size:
182,450 bases
Orientation:
Plus strand

Genomic View for IFT43 Gene

Genes around IFT43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497). Interacts directy with IFT122, WDR35 and TTC21B (PubMed:29220510, PubMed:27932497, PubMed:19450523).

    Alternative splice isoforms for IFT43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT43 Gene

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 & Families for IFT43 Gene

Gene Families for IFT43 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IFT43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT43 Gene

GenScript: Design optimal peptide antigens:
  • Intraflagellar transport protein 43 homolog (IFT43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FT9

UniProtKB/Swiss-Prot:

IFT43_HUMAN :
  • Belongs to the IFT43 family.
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:
As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380).

Phenotypes From GWAS Catalog for IFT43 Gene

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

Human Phenotype Ontology for IFT43 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT43 Gene

MGI Knock Outs for IFT43:
  • Ift43 Ift43<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for IFT43 Gene

Localization for IFT43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT43 Gene

Cytoplasm, cytoskeleton. Cell projection, cilium. Note=Associated with microtubules (PubMed:22361696). Localized at the distal tip of the cilium (PubMed:28973684). {ECO:0000269 PubMed:22361696, ECO:0000269 PubMed:28973684}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFT43 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Microtubules (3)
See all subcellular structures

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:0005856 cytoskeleton IEA --
GO:0005929 cilium TAS --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with IFT43: view

Pathways & Interactions for IFT43 Gene

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

Pathways by source for IFT43 Gene

Gene Ontology (GO) - Biological Process for IFT43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0035721 intraciliary retrograde transport IMP 21378380
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0060271 cilium assembly IMP 21378380
genes like me logo Genes that share ontologies with IFT43: view

No data available for SIGNOR curated interactions for IFT43 Gene

Drugs & Compounds for IFT43 Gene

No Compound Related Data Available

Transcripts for IFT43 Gene

mRNA/cDNA for IFT43 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for IFT43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IFT43 Gene

Protein differential expression in normal tissues from HIPED for IFT43 Gene

This gene is overexpressed in Adrenal (43.0), Testis (9.4), and Ovary (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFT43 Gene



Protein tissue co-expression partners for IFT43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFT43

SOURCE GeneReport for Unigene cluster for IFT43 Gene:

Hs.532626

mRNA Expression by UniProt/SwissProt for IFT43 Gene:

Q96FT9-IFT43_HUMAN
Tissue specificity: Expressed in the retina, predominantly in the photoreceptor outer segment.

Evidence on tissue expression from TISSUES for IFT43 Gene

  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT43 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with IFT43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 31 30
  • 99.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFT43 31 30
  • 78.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFT43 31 30
  • 76.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ift43 30
  • 76.27 (n)
mouse
(Mus musculus)
Mammalia Ift43 17 31 30
  • 75.99 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT43 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT43 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT43 31 30
  • 66.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT43 31
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift43 30
  • 59.74 (n)
zebrafish
(Danio rerio)
Actinopterygii IFT43 31
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5780 31
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Species where no ortholog for IFT43 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFT43: view image

Paralogs for IFT43 Gene

No data available for Paralogs for IFT43 Gene

Variants for IFT43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFT43 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
708954 Likely Benign: not provided 76,022,374(+) T/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
716571 Likely Benign: not provided 76,083,283(+) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
725757 Benign: not provided 75,988,986(+) T/TA INTRON_VARIANT
727845 Likely Benign: not provided 76,083,466(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
732799 Benign: not provided 76,083,268(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IFT43 Gene

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

Variant ID Type Subtype PubMed ID
esv2675014 CNV deletion 23128226
esv3393685 CNV insertion 20981092
esv3634978 CNV loss 21293372
esv3634979 CNV loss 21293372
nsv1360 CNV deletion 18451855
nsv7256 OTHER inversion 18451855

Variation tolerance for IFT43 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT43 Gene

Human Gene Mutation Database (HGMD)
IFT43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT43

SNP Genotyping and Copy Number Assay Products

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

Disorders for IFT43 Gene

MalaCards: The human disease database

(27) MalaCards diseases for IFT43 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IFT43 in MalaCards View complete list of genes associated with diseases

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.
  • Retinitis pigmentosa 81 (RP81) [MIM:617871]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP81 inheritance is autosomal recessive. {ECO:0000269 PubMed:28973684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:28400947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFT43

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

No data available for Genatlas for IFT43 Gene

Publications for IFT43 Gene

  1. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. (PMID: 21378380) Arts HH … Roepman R (Journal of medical genetics 2011) 2 3 4 54
  2. Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis. (PMID: 29220510) Takahara M … Nakayama K (Human molecular genetics 2018) 3 4 54
  3. Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors. (PMID: 27932497) Hirano T … Nakayama K (Molecular biology of the cell 2017) 3 4 54
  4. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. (PMID: 28973684) Biswas P … Ayyagari R (Human molecular genetics 2017) 3 4 54
  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 PK (Genes & development 2010) 3 4 54

Products for IFT43 Gene

Sources for IFT43 Gene