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IFT43 intraflagellar transport 43 [ Homo sapiens (human) ]

Gene ID: 112752, updated on 15-Jun-2019

Summary

Official Symbol
IFT43provided by HGNC
Official Full Name
intraflagellar transport 43provided by HGNC
Primary source
HGNC:HGNC:29669
See related
Ensembl:ENSG00000119650 MIM:614068
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CED3; RP81; SRTD18; C14orf179
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 8.4), thyroid (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See IFT43 in Genome Data Viewer
Location:
14q24.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (75985753..76084073)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76452096..76550416)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase like 5 Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene VISTA enhancer hs2157 Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene transforming growth factor beta 3 Neighboring gene uncharacterized LOC105370573 Neighboring gene G-patch domain containing 2 like Neighboring gene uncharacterized LOC105370575

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Related articles in PubMed

Phenotypes

Associated conditions

Description Tests
Cranioectodermal dysplasia 3
MedGen: C3279807 OMIM: 614099 GeneReviews: Cranioectodermal Dysplasia
Compare labs
Retinitis pigmentosa 81
MedGen: C4693443 OMIM: 617871 GeneReviews: Not available
Compare labs
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
MedGen: C4693420 OMIM: 617866 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TTLL5

Homology

Clone Names

  • FLJ32173, MGC16028

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intraciliary transport particle A IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
intraflagellar transport protein 43 homolog
Names
IFT complex A subunit
intraflagellar transport 43 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031957.1 RefSeqGene

    Range
    5001..102997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001102564.1NP_001096034.1  intraflagellar transport protein 43 homolog isoform 2

    See identical proteins and their annotated locations for NP_001096034.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon and contains two alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AW439039, BC010436, DB443802, DB497730
    Consensus CDS
    CCDS41973.1
    UniProtKB/Swiss-Prot
    Q96FT9
    Related
    ENSP00000324177.6, ENST00000314067.10
    Conserved Domains (1) summary
    pfam15305
    Location:67193
    IFT43; Intraflagellar transport protein 43
  2. NM_001255995.2NP_001242924.1  intraflagellar transport protein 43 homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AW235031, BC042852, BU627157, DB443802
    Consensus CDS
    CCDS58330.1
    UniProtKB/Swiss-Prot
    Q96FT9
    Related
    ENSP00000451096.1, ENST00000556742.1
  3. NM_052873.3NP_443105.2  intraflagellar transport protein 43 homolog isoform 1

    See identical proteins and their annotated locations for NP_443105.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK056735, BC010436, DB443802
    Consensus CDS
    CCDS9847.1
    UniProtKB/Swiss-Prot
    Q96FT9
    UniProtKB/TrEMBL
    A0A024R6A9
    Related
    ENSP00000238628.6, ENST00000238628.10
    Conserved Domains (1) summary
    pfam15305
    Location:74198
    IFT43; Intraflagellar transport protein 43

RNA

  1. NR_045664.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon and uses an alternate splice site in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK302944, BI821833, DB443802
  2. NR_045665.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, contains two alternate internal exons and uses an alternate splice site in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK302944, CB853974, DB443802

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    75985753..76084073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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