IFT43 Gene
protein-coding GIFtS: 41
GCID: GC14P076368
|
|
intraflagellar transport 43 homolog (Chlamydomonas)(Previous name: chromosome 14 open reading frame 179 )
(Previous symbol: C14orf179)
| |
Aliases
for IFT43 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Intraflagellar Transport 43 Homolog (Chlamydomonas)1 2 | | Chromosome 14 Open Reading Frame 1791 | | C14orf1791 2 3 | | CED32 | | FLJ321731 | | IFT Complex A Subunit2 | | MGC160281 | | Intraflagellar Transport Protein 43 Homolog2 |
Export aliases for IFT43 gene to outside databasesPrevious GC identifer: GC14P076453 |
Summaries
for IFT43 gene(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:
This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex thatplays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in thisgene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively splicedtranscript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9Function: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from theciliary tip to the base
|
Genomic Views
for IFT43 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for IFT43
Other transcription factors
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: 14q24.3IFT43 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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plus strand |
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Proteins
for IFT43 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 O95418 Q9ULA9Alternative splicing: 3 isoforms: Q96FT9-1 Q96FT9-2 Q96FT9-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for IFT43: NX_Q96FT9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96FT9
IFT43 Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
IFT43 for ontologies About GeneDecksing
IFT43 Antibody Products:
Assay Products for IFT43: |
Protein
Domains /
Families
for IFT43 gene(According to 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, Q96FT9Similarity: Belongs to the IFT43 family |
Function
for IFT43 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9Function: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from theciliary tip to the base
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT43 |
|
Pathways & Interactions
for IFT43 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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 I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0035721 | intraflagellar retrograde transport |
IMP | -- | | GO:0060271 | cilium morphogenesis |
IMP | -- |
IFT43 for ontologies About GeneDecksing
|
Drugs & Compounds
for IFT43 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for IFT43
Search CenterWatch for drugs/clinical trials and news about IFT43
|
Transcripts
for IFT43 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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_04566512 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for IFT43 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for IFT43 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT43 |
Additional cDNA 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): BQ025134 BI092421 BF726427 CB144357 BC016625 AU131383 AI091720 BM987472 BE501103 AW500639 CA392350 CB850878 BM542939 NM_015072 AA935929 AI371151 CR533554 BM725860 BX647530 BM457163 AL133586 BQ941146 AW026445 AI341875
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 |
|---|
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| SP1: | | | | | - | | - | | - | | | | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | - | | - | | | | | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | - | | - | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | | | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | - | | | | | | - | | - | | | | - | | | | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for IFT43
|
Expression
for IFT43 gene
(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
CGAP TAG: AAGAAATGCA
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
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT43
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT43 |
Orthologs
for IFT43 gene
(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 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for IFT43 (if available)
TreeFam Gene Tree for IFT43 (if available) |
Paralogs
for IFT43 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for IFT43 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for IFT43 (76368479 - 76550928 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IFT43: --
Human Gene Mutation Database (HGMD): IFT43
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT43 |
|
Disorders
/ Diseases
for IFT43 gene
(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.)
About This Section
|
IFT43 for disorders About GeneDecksing
OMIM gene information: 614068
OMIM disorders: --
UniProtKB/Swiss-Prot: IFT43_HUMAN, Q96FT9
Defects in IFT43 are the cause of cranioectodermal dysplasia type 3 (CED3) [MIM:614099]. A disordercharacterized 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 andabnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitispigmentosa have also been described
6  diseases for IFT43: About MalaCardssensenbrenner syndrome cranioectodermal dysplasia 3 nephronophthisis brachydactyly
craniosynostosis hepatitis
Export disorders for IFT43 gene to outside databases
|
Publications
for IFT43 gene (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 |
- C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. (PubMed id 21378380)1, 2, 3 Arts H.H.... Roepman R. (2011)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
- Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. (PubMed id 22361696)2 Stadler C.... Lundberg E. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- 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)
- 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)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- SnapShot: Intraflagellar transport. (PubMed id 19450523)2 Cole D.G. and Snell W.J. (2009)
|
External Searches for IFT43 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing IFT43 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IFT43 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing IFT43 gene(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
|
| Name | Description |
| PharmGKB entry for IFT43 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for IFT43 gene:
Search GeneIP for patents involving IFT43
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for IFT43 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for IFT43 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFT43 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT43 | | | OriGene Protein Over-expression Lysate for IFT43 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for IFT43 | | OriGene 3'-UTR Clone for IFT43 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT43 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for IFT43 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IFT43 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT43 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT43 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFT43 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFT43 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFT43 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT43 |
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