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Q96FT9 (IFT43_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Intraflagellar transport protein 43 homolog
Gene names
Name:IFT43
Synonyms:C14orf179
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length208 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base. Ref.7

Subunit structure

Component of the IFT complex A (IFT-A) complex Probable. Interacts with WDR35/IFT121. Ref.4 Ref.5

Subcellular location

Cytoplasmcytoskeleton. Note: Associated with microtubules. Ref.8

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the IFT43 family.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96FT9-1)

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.
Isoform 2 (identifier: Q96FT9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     72-98: KFRRKASEEIEDFRLRPQSLNGSDYGG → NGTQTGKQQLDLNACYHKTHHRDLGLASLEEA
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96FT9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     99-208: DIPIIPDLEE...EDPAGQARHT → AVPKQANNSWI
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96FT9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     83-208: DFRLRPQSLN...EDPAGQARHT → EYVSSILILMVSYVDLGQQCSLGGHDLFHLC
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 208208Intraflagellar transport protein 43 homolog
PRO_0000254041

Amino acid modifications

Modified residue11N-acetylmethionine Ref.9
Modified residue781Phosphoserine Ref.6

Natural variations

Alternative sequence72 – 9827KFRRK…SDYGG → NGTQTGKQQLDLNACYHKTH HRDLGLASLEEA in isoform 2.
VSP_021169
Alternative sequence83 – 208126DFRLR…QARHT → EYVSSILILMVSYVDLGQQC SLGGHDLFHLC in isoform 4.
VSP_047398
Alternative sequence99 – 208110DIPII…QARHT → AVPKQANNSWI in isoform 3.
VSP_041319
Natural variant851R → H.
Corresponds to variant rs2302858 [ dbSNP | Ensembl ].
VAR_056839
Isoform 2:
Natural variant941D → N.
Corresponds to variant rs17783366 [ dbSNP | Ensembl ].

Experimental info

Sequence conflict131Y → C in BAG64101. Ref.1
Sequence conflict1341D → Y in BAG64101. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 31, 2011. Version 3.
Checksum: 53586B5CAEF51A13

FASTA20823,529
        10         20         30         40         50         60 
MEDLLDLDEE LRYSLATSRA KMGRRAQQES AQAENHLNGK NSSLTLTGET SSAKLPRCRQ 

        70         80         90        100        110        120 
GGWAGDSVKA SKFRRKASEE IEDFRLRPQS LNGSDYGGDI PIIPDLEEVQ EEDFVLQVAA 

       130        140        150        160        170        180 
PPSIQIKRVM TYRDLDNDLM KYSAIQTLDG EIDLKLLTKV LAPEHEVRED DVGWDWDHLF 

       190        200 
TEVSSEVLTE WDPLQTEKED PAGQARHT 

« Hide

Isoform 2 [UniParc].

Checksum: 2FE1E360D9E39AAB
Show »

FASTA21323,923
Isoform 3 [UniParc].

Checksum: A72A9F27EB41A630
Show »

FASTA10912,071
Isoform 4 [UniParc].

Checksum: E65C0269E1DF2E93
Show »

FASTA11312,521

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Placenta and Testis.
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Uterus.
[4]"SnapShot: Intraflagellar transport."
Cole D.G., Snell W.J.
Cell 137:784-784(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH WDR35.
[5]"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE IFT-A COMPLEX.
[6]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-78, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome."
Arts H.H., Bongers E.M., Mans D.A., van Beersum S.E., Oud M.M., Bolat E., Spruijt L., Cornelissen E.A., Schuurs-Hoeijmakers J.H., de Leeuw N., Cormier-Daire V., Brunner H.G., Knoers N.V., Roepman R.
J. Med. Genet. 48:390-395(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN CED3.
[8]"Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy."
Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M., Lundberg E.
J. Proteomics 75:2236-2251(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41973.1. [Q96FT9-1]
CCDS58330.1. [Q96FT9-4]
CCDS9847.1. [Q96FT9-2]
RefSeqNP_001096034.1. NM_001102564.1. [Q96FT9-1]
NP_001242924.1. NM_001255995.1. [Q96FT9-4]
NP_443105.2. NM_052873.2. [Q96FT9-2]
UniGeneHs.532626.

3D structure databases

ProteinModelPortalQ96FT9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125202. 1 interaction.

PTM databases

PhosphoSiteQ96FT9.

Polymorphism databases

DMDM334302894.

Proteomic databases

MaxQBQ96FT9.
PaxDbQ96FT9.
PRIDEQ96FT9.

Protocols and materials databases

DNASU112752.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000238628; ENSP00000238628; ENSG00000119650. [Q96FT9-2]
ENST00000314067; ENSP00000324177; ENSG00000119650. [Q96FT9-1]
ENST00000542766; ENSP00000440064; ENSG00000119650. [Q96FT9-1]
ENST00000556742; ENSP00000451096; ENSG00000119650. [Q96FT9-4]
GeneID112752.
KEGGhsa:112752.
UCSCuc001xsg.2. human. [Q96FT9-2]
uc010asl.1. human. [Q96FT9-1]

Organism-specific databases

CTD112752.
GeneCardsGC14P076368.
GeneReviewsIFT43.
H-InvDBHIX0020700.
HGNCHGNC:29669. IFT43.
HPAHPA003438.
MIM614068. gene.
614099. phenotype.
neXtProtNX_Q96FT9.
Orphanet1515. Cranioectodermal dysplasia.
PharmGKBPA145149677.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72973.
HOGENOMHOG000007306.
HOVERGENHBG081288.
OMAQSEREDH.
OrthoDBEOG7W41FG.
TreeFamTF323566.

Gene expression databases

ArrayExpressQ96FT9.
BgeeQ96FT9.
CleanExHS_C14orf179.
GenevestigatorQ96FT9.

Family and domain databases

InterProIPR029302. IFT43.
[Graphical view]
PfamPF15305. IFT43. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi112752.
NextBio78651.
PROQ96FT9.
SOURCESearch...

Entry information

Entry nameIFT43_HUMAN
AccessionPrimary (citable) accession number: Q96FT9
Secondary accession number(s): B3KPT6 expand/collapse secondary AC list , B4DZI9, G3V385, O95418, Q9ULA9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: July 9, 2014
This is version 85 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM