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Q96FT9

- IFT43_HUMAN

UniProt

Q96FT9 - IFT43_HUMAN

Protein

Intraflagellar transport protein 43 homolog

Gene

IFT43

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 3 (31 May 2011)
      Previous versions | rss
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    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

    1. cilium morphogenesis Source: UniProtKB
    2. intraciliary retrograde transport Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    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
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:29669. IFT43.

    Subcellular locationi

    Cytoplasmcytoskeleton 1 Publication
    Note: Associated with microtubules.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. intraciliary transport particle A Source: UniProtKB
    3. microtubule cytoskeleton Source: HPA
    4. microtubule organizing center Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

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

    Keywords - Diseasei

    Ciliopathy, Ectodermal dysplasia

    Organism-specific databases

    MIMi614099. phenotype.
    Orphaneti1515. Cranioectodermal dysplasia.
    PharmGKBiPA145149677.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 208208Intraflagellar transport protein 43 homologPRO_0000254041Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei78 – 781Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96FT9.
    PaxDbiQ96FT9.
    PRIDEiQ96FT9.

    PTM databases

    PhosphoSiteiQ96FT9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96FT9.
    BgeeiQ96FT9.
    CleanExiHS_C14orf179.
    GenevestigatoriQ96FT9.

    Organism-specific databases

    HPAiHPA003438.

    Interactioni

    Subunit structurei

    Component of the IFT complex A (IFT-A) complex Probable. Interacts with WDR35/IFT121.2 PublicationsCurated

    Protein-protein interaction databases

    BioGridi125202. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96FT9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the IFT43 family.Curated

    Phylogenomic databases

    eggNOGiNOG72973.
    HOGENOMiHOG000007306.
    HOVERGENiHBG081288.
    OMAiQSEREDH.
    OrthoDBiEOG7W41FG.
    TreeFamiTF323566.

    Family and domain databases

    InterProiIPR029302. IFT43.
    [Graphical view]
    PfamiPF15305. IFT43. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MEDLLDLDEE LRYSLATSRA KMGRRAQQES AQAENHLNGK NSSLTLTGET    50
    SSAKLPRCRQ GGWAGDSVKA SKFRRKASEE IEDFRLRPQS LNGSDYGGDI 100
    PIIPDLEEVQ EEDFVLQVAA PPSIQIKRVM TYRDLDNDLM KYSAIQTLDG 150
    EIDLKLLTKV LAPEHEVRED DVGWDWDHLF TEVSSEVLTE WDPLQTEKED 200
    PAGQARHT 208
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti13 – 131Y → C in BAG64101. (PubMed:14702039)Curated
    Sequence conflicti134 – 1341D → Y in BAG64101. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851R → H.
    Corresponds to variant rs2302858 [ dbSNP | Ensembl ].
    VAR_056839
    Isoform 2 (identifier: Q96FT9-2)
    Natural varianti94 – 941D → N.
    Corresponds to variant rs17783366 [ dbSNP | Ensembl ].

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei72 – 9827KFRRK…SDYGG → NGTQTGKQQLDLNACYHKTH HRDLGLASLEEA in isoform 2. 1 PublicationVSP_021169Add
    BLAST
    Alternative sequencei83 – 208126DFRLR…QARHT → EYVSSILILMVSYVDLGQQC SLGGHDLFHLC in isoform 4. CuratedVSP_047398Add
    BLAST
    Alternative sequencei99 – 208110DIPII…QARHT → AVPKQANNSWI in isoform 3. 1 PublicationVSP_041319Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UCSCiuc001xsg.2. human. [Q96FT9-2]
    uc010asl.1. human. [Q96FT9-1]

    Polymorphism databases

    DMDMi334302894.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS41973.1. [Q96FT9-1 ]
    CCDS58330.1. [Q96FT9-4 ]
    CCDS9847.1. [Q96FT9-2 ]
    RefSeqi NP_001096034.1. NM_001102564.1. [Q96FT9-1 ]
    NP_001242924.1. NM_001255995.1. [Q96FT9-4 ]
    NP_443105.2. NM_052873.2. [Q96FT9-2 ]
    UniGenei Hs.532626.

    3D structure databases

    ProteinModelPortali Q96FT9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125202. 1 interaction.

    PTM databases

    PhosphoSitei Q96FT9.

    Polymorphism databases

    DMDMi 334302894.

    Proteomic databases

    MaxQBi Q96FT9.
    PaxDbi Q96FT9.
    PRIDEi Q96FT9.

    Protocols and materials databases

    DNASUi 112752.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000238628 ; ENSP00000238628 ; ENSG00000119650 . [Q96FT9-2 ]
    ENST00000314067 ; ENSP00000324177 ; ENSG00000119650 . [Q96FT9-1 ]
    ENST00000542766 ; ENSP00000440064 ; ENSG00000119650 . [Q96FT9-1 ]
    ENST00000556742 ; ENSP00000451096 ; ENSG00000119650 . [Q96FT9-4 ]
    GeneIDi 112752.
    KEGGi hsa:112752.
    UCSCi uc001xsg.2. human. [Q96FT9-2 ]
    uc010asl.1. human. [Q96FT9-1 ]

    Organism-specific databases

    CTDi 112752.
    GeneCardsi GC14P076368.
    GeneReviewsi IFT43.
    H-InvDB HIX0020700.
    HGNCi HGNC:29669. IFT43.
    HPAi HPA003438.
    MIMi 614068. gene.
    614099. phenotype.
    neXtProti NX_Q96FT9.
    Orphaneti 1515. Cranioectodermal dysplasia.
    PharmGKBi PA145149677.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72973.
    HOGENOMi HOG000007306.
    HOVERGENi HBG081288.
    OMAi QSEREDH.
    OrthoDBi EOG7W41FG.
    TreeFami TF323566.

    Miscellaneous databases

    GenomeRNAii 112752.
    NextBioi 78651.
    PROi Q96FT9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96FT9.
    Bgeei Q96FT9.
    CleanExi HS_C14orf179.
    Genevestigatori Q96FT9.

    Family and domain databases

    InterProi IPR029302. IFT43.
    [Graphical view ]
    Pfami PF15305. IFT43. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiIFT43_HUMAN
    AccessioniPrimary (citable) accession number: Q96FT9
    Secondary accession number(s): B3KPT6
    , B4DZI9, G3V385, O95418, Q9ULA9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: May 31, 2011
    Last modified: October 1, 2014
    This is version 86 of the entry and version 3 of the sequence. [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

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3