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Q8WYA0

- IFT81_HUMAN

UniProt

Q8WYA0 - IFT81_HUMAN

Protein

Intraflagellar transport protein 81 homolog

Gene

IFT81

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis.1 Publication

    GO - Molecular functioni

    1. tubulin binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. intraciliary transport involved in cilium morphogenesis Source: UniProtKB
    3. spermatogenesis Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Intraflagellar transport protein 81 homolog
    Alternative name(s):
    Carnitine deficiency-associated protein expressed in ventricle 1
    Short name:
    CDV-1
    Gene namesi
    Name:IFT81
    Synonyms:CDV1
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:14313. IFT81.

    Subcellular locationi

    Cell projectioncilium 1 Publication

    GO - Cellular componenti

    1. centrosome Source: RefGenome
    2. cilium Source: RefGenome
    3. intraciliary transport particle B Source: BHF-UCL
    4. motile cilium Source: BHF-UCL

    Keywords - Cellular componenti

    Cell projection, Cilium

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi73 – 753KYK → EYE: Abolishes tubulin-binding and impaired ciliogenesis; when associated with 113-E-E-114. 1 Publication
    Mutagenesisi113 – 1142KK → EE: Abolishes tubulin-binding and impaired ciliogenesis; when associated with 73-E--E-75. 1 Publication

    Organism-specific databases

    PharmGKBiPA26349.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 676675Intraflagellar transport protein 81 homologPRO_0000020916Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication
    Modified residuei61 – 611Phosphothreonine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ8WYA0.
    PaxDbiQ8WYA0.
    PRIDEiQ8WYA0.

    PTM databases

    PhosphoSiteiQ8WYA0.

    Expressioni

    Tissue specificityi

    Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly expressed in testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8WYA0.
    BgeeiQ8WYA0.
    CleanExiHS_IFT81.
    GenevestigatoriQ8WYA0.

    Organism-specific databases

    HPAiHPA019087.
    HPA020051.

    Interactioni

    Subunit structurei

    Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT74; the interaction is direct: within the IFT complex B, IFT74 and IFT81 mediate the transport of tubulin within the cilium. Interacts with tubulin; the interaction is direct. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP. Interacts with IFT88.2 Publications

    Protein-protein interaction databases

    BioGridi118802. 3 interactions.
    STRINGi9606.ENSP00000242591.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WYA0.
    SMRiQ8WYA0. Positions 5-122.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 121120CH (calponin-homology)-like regionAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili132 – 258127Sequence AnalysisAdd
    BLAST
    Coiled coili306 – 38984Sequence AnalysisAdd
    BLAST
    Coiled coili416 – 45641Sequence AnalysisAdd
    BLAST
    Coiled coili490 – 622133Sequence AnalysisAdd
    BLAST

    Domaini

    The CH (calponin-homology)-like region shows high similarity to a CH (calponin-homology) domain and mediated binding to the globular domain of tubulin.1 Publication

    Sequence similaritiesi

    Belongs to the IFT81 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG77882.
    HOGENOMiHOG000237323.
    HOVERGENiHBG048817.
    InParanoidiQ8WYA0.
    OMAiYPVLHWL.
    OrthoDBiEOG7JHM54.
    PhylomeDBiQ8WYA0.
    TreeFamiTF314635.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing and alternative initiation. Align

    Isoform CDV-1R2 Publications (identifier: Q8WYA0-1) [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

    MSDQIKFIMD SLNKEPFRKN YNLITFDSLE PMQLLQVLSD VLAEIDPKQL    50
    VDIREEMPEQ TAKRMLSLLG ILKYKPSGNA TDMSTFRQGL VIGSKPVIYP 100
    VLHWLLQRTN ELKKRAYLAR FLIKLEVPSE FLQDETVADT NKQYEELMEA 150
    FKTLHKEYEQ LKISGFSTAE IRKDISAMEE EKDQLIKRVE HLKKRVETAQ 200
    NHQWMLKIAR QLRVEKEREE YLAQQKQEQK NQLFHAVQRL QRVQNQLKSM 250
    RQAAADAKPE SLMKRLEEEI KFNLYMVTEK FPKELENKKK ELHFLQKVVS 300
    EPAMGHSDLL ELESKINEIN TEINQLIEKK MMRNEPIEGK LSLYRQQASI 350
    ISRKKEAKAE ELQEAKEKLA SLEREASVKR NQTREFDGTE VLKGDEFKRY 400
    VNKLRSKSTV FKKKHQIIAE LKAEFGLLQR TEELLKQRHE NIQQQLQTME 450
    EKKGISGYSY TQEELERVSA LKSEVDEMKG RTLDDMSEMV KKLYSLVSEK 500
    KSALASVIKE LRQLRQKYQE LTQECDEKKS QYDSCAAGLE SNRSKLEQEV 550
    RRLREECLQE ESRYHYTNCM IKNLEVQLRR ATDEMKAYIS SDQQEKRKAI 600
    REQYTKNTAE QENLGKKLRE KQKVIRESHG PNMKQAKMWR DLEQLMECKK 650
    QCFLKQQSQT SIGQVIQEGG EDRLIL 676
    Length:676
    Mass (Da):79,746
    Last modified:March 1, 2002 - v1
    Checksum:iE5EBD887A6BF953E
    GO
    Isoform 2Curated (identifier: Q8WYA0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         397-431: FKRYVNKLRSKSTVFKKKHQIIAELKAEFGLLQRT → RQDLTLSPRLECGGVIMAYCSLKLLGSSDPPTSAS
         432-676: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:431
    Mass (Da):50,241
    Checksum:iD6C78C86420CE32C
    GO
    Isoform CDV-1 (identifier: Q8WYA0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-569: Missing.

    Note: Produced by alternative initiation at Met-570 of isoform CDV-1R.

    Show »
    Length:107
    Mass (Da):12,667
    Checksum:i2721396F751403AC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti59 – 591E → K in BAC03690. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 569569Missing in isoform CDV-1. 2 PublicationsVSP_018784Add
    BLAST
    Alternative sequencei397 – 43135FKRYV…LLQRT → RQDLTLSPRLECGGVIMAYC SLKLLGSSDPPTSAS in isoform 2. 1 PublicationVSP_050695Add
    BLAST
    Alternative sequencei432 – 676245Missing in isoform 2. 1 PublicationVSP_050696Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250326 mRNA. Translation: AAL50343.1.
    AF332010 mRNA. Translation: AAO32947.1.
    AF139540 mRNA. Translation: AAP97269.1.
    AF078932 mRNA. Translation: AAD48091.1.
    CH471054 Genomic DNA. Translation: EAW97898.1.
    BC004536 mRNA. Translation: AAH04536.2.
    BC029349 mRNA. Translation: AAH29349.1.
    BC108257 mRNA. Translation: AAI08258.1.
    AK091549 mRNA. Translation: BAC03690.1. Sequence problems.
    CCDSiCCDS41831.1. [Q8WYA0-1]
    CCDS9142.1. [Q8WYA0-3]
    RefSeqiNP_001137251.1. NM_001143779.1. [Q8WYA0-1]
    NP_054774.2. NM_014055.3. [Q8WYA0-1]
    NP_113661.2. NM_031473.3. [Q8WYA0-3]
    UniGeneiHs.528382.

    Genome annotation databases

    EnsembliENST00000242591; ENSP00000242591; ENSG00000122970. [Q8WYA0-1]
    ENST00000361948; ENSP00000355372; ENSG00000122970. [Q8WYA0-3]
    ENST00000552912; ENSP00000449718; ENSG00000122970. [Q8WYA0-1]
    GeneIDi28981.
    KEGGihsa:28981.
    UCSCiuc001tqg.3. human. [Q8WYA0-3]
    uc001tqh.3. human. [Q8WYA0-1]

    Polymorphism databases

    DMDMi48474907.

    Keywords - Coding sequence diversityi

    Alternative initiation, Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250326 mRNA. Translation: AAL50343.1 .
    AF332010 mRNA. Translation: AAO32947.1 .
    AF139540 mRNA. Translation: AAP97269.1 .
    AF078932 mRNA. Translation: AAD48091.1 .
    CH471054 Genomic DNA. Translation: EAW97898.1 .
    BC004536 mRNA. Translation: AAH04536.2 .
    BC029349 mRNA. Translation: AAH29349.1 .
    BC108257 mRNA. Translation: AAI08258.1 .
    AK091549 mRNA. Translation: BAC03690.1 . Sequence problems.
    CCDSi CCDS41831.1. [Q8WYA0-1 ]
    CCDS9142.1. [Q8WYA0-3 ]
    RefSeqi NP_001137251.1. NM_001143779.1. [Q8WYA0-1 ]
    NP_054774.2. NM_014055.3. [Q8WYA0-1 ]
    NP_113661.2. NM_031473.3. [Q8WYA0-3 ]
    UniGenei Hs.528382.

    3D structure databases

    ProteinModelPortali Q8WYA0.
    SMRi Q8WYA0. Positions 5-122.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118802. 3 interactions.
    STRINGi 9606.ENSP00000242591.

    PTM databases

    PhosphoSitei Q8WYA0.

    Polymorphism databases

    DMDMi 48474907.

    Proteomic databases

    MaxQBi Q8WYA0.
    PaxDbi Q8WYA0.
    PRIDEi Q8WYA0.

    Protocols and materials databases

    DNASUi 28981.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000242591 ; ENSP00000242591 ; ENSG00000122970 . [Q8WYA0-1 ]
    ENST00000361948 ; ENSP00000355372 ; ENSG00000122970 . [Q8WYA0-3 ]
    ENST00000552912 ; ENSP00000449718 ; ENSG00000122970 . [Q8WYA0-1 ]
    GeneIDi 28981.
    KEGGi hsa:28981.
    UCSCi uc001tqg.3. human. [Q8WYA0-3 ]
    uc001tqh.3. human. [Q8WYA0-1 ]

    Organism-specific databases

    CTDi 28981.
    GeneCardsi GC12P110562.
    HGNCi HGNC:14313. IFT81.
    HPAi HPA019087.
    HPA020051.
    MIMi 605489. gene.
    neXtProti NX_Q8WYA0.
    PharmGKBi PA26349.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG77882.
    HOGENOMi HOG000237323.
    HOVERGENi HBG048817.
    InParanoidi Q8WYA0.
    OMAi YPVLHWL.
    OrthoDBi EOG7JHM54.
    PhylomeDBi Q8WYA0.
    TreeFami TF314635.

    Miscellaneous databases

    ChiTaRSi IFT81. human.
    GeneWikii IFT81.
    GenomeRNAii 28981.
    NextBioi 51867.
    PROi Q8WYA0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WYA0.
    Bgeei Q8WYA0.
    CleanExi HS_IFT81.
    Genevestigatori Q8WYA0.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene."
      Higashi M., Kobayashi K., Iijima M., Wakana S., Horiuchi M., Yasuda T., Yoshida G., Kanmura Y., Saheki T.
      Mamm. Genome 11:1053-1057(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1R).
      Tissue: Lymphocyte.
    2. "Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation."
      Peng J., Yu L., Horiuchi M., Zhang P., Huang X., Zhang Y., Li D., Jalil M.A., Zhao S.
      Mol. Biol. Rep. 29:353-362(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1R), TISSUE SPECIFICITY.
      Tissue: Testis1 Publication.
    3. Hu G.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CDV-1).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORMS 2 AND CDV-1).
      Tissue: Skeletal muscleImported and UterusImported.
    6. "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] OF 32-676 (ISOFORM CDV-1R).
      Tissue: Fetal brain1 Publication.
    7. "Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits."
      Lucker B.F., Behal R.H., Qin H., Siron L.C., Taggart W.D., Rosenbaum J.L., Cole D.G.
      J. Biol. Chem. 280:27688-27696(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH IFT74.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-61, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    11. "Molecular basis of tubulin transport within the cilium by IFT74 and IFT81."
      Bhogaraju S., Cajanek L., Fort C., Blisnick T., Weber K., Taschner M., Mizuno N., Lamla S., Bastin P., Nigg E.A., Lorentzen E.
      Science 341:1009-1012(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE IFT COMPLEX B, INTERACTION WITH TUBULIN AND IFT74, MUTAGENESIS OF 73-LYS--LYS-75 AND 113-LYS-LYS-114.

    Entry informationi

    Entry nameiIFT81_HUMAN
    AccessioniPrimary (citable) accession number: Q8WYA0
    Secondary accession number(s): Q2YDY1
    , Q8NB51, Q9BSV2, Q9UNY8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 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 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3