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Protein

Intraflagellar transport protein 43 homolog

Gene

IFT43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.1 Publication

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • intraciliary retrograde transport Source: UniProtKB
  • intraciliary transport involved in cilium assembly Source: Reactome

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 43 homolog
Gene namesi
Name:IFT43
Synonyms:C14orf179
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119650.12
HGNCiHGNC:29669 IFT43
MIMi614068 gene
neXtProtiNX_Q96FT9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cranioectodermal dysplasia 3 (CED3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614099

Keywords - Diseasei

Ciliopathy, Ectodermal dysplasia

Organism-specific databases

DisGeNETi112752
GeneReviewsiIFT43
MalaCardsiIFT43
MIMi614099 phenotype
OpenTargetsiENSG00000119650
Orphaneti1515 Cranioectodermal dysplasia
PharmGKBiPA145149677

Polymorphism and mutation databases

BioMutaiIFT43
DMDMi334302894

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002540411 – 208Intraflagellar transport protein 43 homologAdd BLAST208

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei78PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ96FT9
PeptideAtlasiQ96FT9
PRIDEiQ96FT9

PTM databases

iPTMnetiQ96FT9
PhosphoSitePlusiQ96FT9

Expressioni

Gene expression databases

BgeeiENSG00000119650
CleanExiHS_C14orf179
ExpressionAtlasiQ96FT9 baseline and differential
GenevisibleiQ96FT9 HS

Organism-specific databases

HPAiHPA003438

Interactioni

Subunit structurei

Component of the IFT complex A (IFT-A) complex (Probable). Interacts with WDR35/IFT121.Curated2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi125202, 18 interactors
IntActiQ96FT9, 10 interactors

Structurei

3D structure databases

ProteinModelPortaliQ96FT9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the IFT43 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000012060
HOGENOMiHOG000007306
HOVERGENiHBG081288
InParanoidiQ96FT9
KOiK19675
OMAiRKTGWGD
TreeFamiTF323566

Family and domain databases

InterProiView protein in InterPro
IPR029302 IFT43
PANTHERiPTHR33724 PTHR33724, 1 hit
PfamiView protein in Pfam
PF15305 IFT43, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96FT9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEDLLDLDEE LRYSLATSRA KMGRRAQQES AQAENHLNGK NSSLTLTGET
60 70 80 90 100
SSAKLPRCRQ GGWAGDSVKA SKFRRKASEE IEDFRLRPQS LNGSDYGGDI
110 120 130 140 150
PIIPDLEEVQ EEDFVLQVAA PPSIQIKRVM TYRDLDNDLM KYSAIQTLDG
160 170 180 190 200
EIDLKLLTKV LAPEHEVRED DVGWDWDHLF TEVSSEVLTE WDPLQTEKED

PAGQARHT
Length:208
Mass (Da):23,529
Last modified:May 31, 2011 - v3
Checksum:i53586B5CAEF51A13
GO
Isoform 2 (identifier: Q96FT9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-98: KFRRKASEEIEDFRLRPQSLNGSDYGG → NGTQTGKQQLDLNACYHKTHHRDLGLASLEEA

Note: No experimental confirmation available.
Show »
Length:213
Mass (Da):23,923
Checksum:i2FE1E360D9E39AAB
GO
Isoform 3 (identifier: Q96FT9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-208: DIPIIPDLEE...EDPAGQARHT → AVPKQANNSWI

Note: No experimental confirmation available.
Show »
Length:109
Mass (Da):12,071
Checksum:iA72A9F27EB41A630
GO
Isoform 4 (identifier: Q96FT9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-208: DFRLRPQSLN...EDPAGQARHT → EYVSSILILMVSYVDLGQQCSLGGHDLFHLC

Note: Gene prediction based on EST data.
Show »
Length:113
Mass (Da):12,521
Checksum:iE65C0269E1DF2E93
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13Y → C in BAG64101 (PubMed:14702039).Curated1
Sequence conflicti134D → Y in BAG64101 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05683985R → H. Corresponds to variant dbSNP:rs2302858Ensembl.1
Isoform 2 (identifier: Q96FT9-2)
Natural varianti94D → N. Corresponds to variant dbSNP:rs17783366Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02116972 – 98KFRRK…SDYGG → NGTQTGKQQLDLNACYHKTH HRDLGLASLEEA in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_04739883 – 208DFRLR…QARHT → EYVSSILILMVSYVDLGQQC SLGGHDLFHLC in isoform 4. CuratedAdd BLAST126
Alternative sequenceiVSP_04131999 – 208DIPII…QARHT → AVPKQANNSWI in isoform 3. 1 PublicationAdd BLAST110

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056735 mRNA Translation: BAG51798.1
AK302944 mRNA Translation: BAG64101.1
AF107885 Genomic DNA Translation: AAC79728.1
AC008015 Genomic DNA Translation: AAF03245.1
BC010436 mRNA Translation: AAH10436.1
CCDSiCCDS41973.1 [Q96FT9-1]
CCDS58330.1 [Q96FT9-4]
CCDS9847.1 [Q96FT9-2]
RefSeqiNP_001096034.1, NM_001102564.1 [Q96FT9-1]
NP_001242924.1, NM_001255995.1 [Q96FT9-4]
NP_443105.2, NM_052873.2 [Q96FT9-2]
UniGeneiHs.532626

Genome annotation databases

EnsembliENST00000238628; ENSP00000238628; ENSG00000119650 [Q96FT9-2]
ENST00000314067; ENSP00000324177; ENSG00000119650 [Q96FT9-1]
ENST00000542766; ENSP00000440064; ENSG00000119650 [Q96FT9-1]
ENST00000556742; ENSP00000451096; ENSG00000119650 [Q96FT9-4]
GeneIDi112752
KEGGihsa:112752
UCSCiuc001xse.4 human [Q96FT9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIFT43_HUMAN
AccessioniPrimary (citable) accession number: Q96FT9
Secondary accession number(s): B3KPT6
, B4DZI9, G3V385, O95418, Q9ULA9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: March 28, 2018
This is version 115 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health