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Q96RY7

- IF140_HUMAN

UniProt

Q96RY7 - IF140_HUMAN

Protein

Intraflagellar transport protein 140 homolog

Gene

IFT140

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance.1 Publication

    GO - Biological processi

    1. cilium assembly Source: Ensembl
    2. intraciliary retrograde transport Source: RefGenome
    3. protein localization to cilium Source: UniProt
    4. regulation of cilium assembly Source: UniProt
    5. renal system development Source: UniProt
    6. retina development in camera-type eye Source: UniProt
    7. skeletal system morphogenesis Source: UniProt

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    SignaLinkiQ96RY7.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Intraflagellar transport protein 140 homolog
    Alternative name(s):
    WD and tetratricopeptide repeats protein 2
    Gene namesi
    Name:IFT140
    Synonyms:KIAA0590, WDTC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:29077. IFT140.

    Subcellular locationi

    GO - Cellular componenti

    1. axoneme Source: UniProt
    2. centrosome Source: UniProt
    3. ciliary basal body Source: UniProtKB
    4. intraciliary transport particle A Source: UniProtKB
    5. photoreceptor connecting cilium Source: Ensembl

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521L → F in SRTD9. 1 Publication
    VAR_071000
    Natural varianti212 – 2121G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068523
    Natural varianti233 – 2331I → M in SRTD9. 1 Publication
    VAR_068524
    Natural varianti267 – 2671E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication
    VAR_071003
    Natural varianti292 – 2921V → M in SRTD9; impairs centrosomal localization. 2 Publications
    VAR_068525
    Natural varianti311 – 3111Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068526
    Natural varianti522 – 5221G → E in SRTD9. 2 Publications
    VAR_068527
    Natural varianti576 – 5761R → Q in SRTD9. 1 Publication
    VAR_068528
    Natural varianti664 – 6641E → K in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068529
    Natural varianti1360 – 13601C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication
    VAR_071008

    Keywords - Diseasei

    Ciliopathy, Disease mutation

    Organism-specific databases

    MIMi266920. phenotype.
    Orphaneti474. Jeune syndrome.
    140969. Saldino-Mainzer syndrome.
    PharmGKBiPA142671665.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14621462Intraflagellar transport protein 140 homologPRO_0000051046Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1443 – 14431Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96RY7.
    PaxDbiQ96RY7.
    PRIDEiQ96RY7.

    PTM databases

    PhosphoSiteiQ96RY7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96RY7.
    BgeeiQ96RY7.
    CleanExiHS_IFT140.
    GenevestigatoriQ96RY7.

    Organism-specific databases

    HPAiHPA042197.

    Interactioni

    Subunit structurei

    Component of the IFT complex A (IFT-A).1 Publication

    Protein-protein interaction databases

    BioGridi115090. 4 interactions.
    IntActiQ96RY7. 5 interactions.
    MINTiMINT-8247576.
    STRINGi9606.ENSP00000354895.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96RY7.
    SMRiQ96RY7. Positions 65-132, 195-220, 902-927, 955-1004.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati13 – 5745WD 1Add
    BLAST
    Repeati59 – 9840WD 2Add
    BLAST
    Repeati101 – 14040WD 3Add
    BLAST
    Repeati263 – 31351WD 4Add
    BLAST
    Repeati322 – 36140WD 5Add
    BLAST
    Repeati772 – 80736TPR 1Add
    BLAST
    Repeati869 – 90436TPR 2Add
    BLAST
    Repeati906 – 93429TPR 3Add
    BLAST
    Repeati955 – 98834TPR 4Add
    BLAST
    Repeati1010 – 104334TPR 5Add
    BLAST
    Repeati1078 – 111134TPR 6Add
    BLAST
    Repeati1123 – 115634TPR 7Add
    BLAST
    Repeati1189 – 122234TPR 8Add
    BLAST
    Repeati1376 – 140934TPR 9Add
    BLAST

    Sequence similaritiesi

    Contains 9 TPR repeats.Curated
    Contains 5 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG301450.
    HOGENOMiHOG000230867.
    HOVERGENiHBG055589.
    InParanoidiQ96RY7.
    OMAiKGRVAMW.
    PhylomeDBiQ96RY7.
    TreeFamiTF105851.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 1 hit.
    [Graphical view]
    SMARTiSM00320. WD40. 3 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 4 hits.
    PROSITEiPS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96RY7-1) [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

    MALYYDHQIE APDAAGSPSF ISWHPVHPFL AVAYISTTST GSVDIYLEQG     50
    ECVPDTHVER PFRVASLCWH PTRLVLAVGW ETGEVTVFNK QDKEQHTMPL 100
    THTADITVLR WSPSGNCLLS GDRLGVLLLW RLDQRGRVQG TPLLKHEYGK 150
    HLTHCIFRLP PPGEDLVQLA KAAVSGDEKA LDMFNWKKSS SGSLLKMGSH 200
    EGLLFFVSLM DGTVHYVDEK GKTTQVVSAD STIQMLFYME KREALVVVTE 250
    NLRLSLYTVP PEGKAEEVMK VKLSGKTGRR ADIALIEGSL LVMAVGEAAL 300
    RFWDIERGEN YILSPDEKFG FEKGENMNCV CYCKVKGLLA AGTDRGRVAM 350
    WRKVPDFLGS PGAEGKDRWA LQTPTELQGN ITQIQWGSRK NLLAVNSVIS 400
    VAILSERAMS SHFHQQVAAM QVSPSLLNVC FLSTGVAHSL RTDMHISGVF 450
    ATKDAVAVWN GRQVAIFELS GAAIRSAGTF LCETPVLAMH EENVYTVESN 500
    RVQVRTWQGT VKQLLLFSET EGNPCFLDIC GNFLVVGTDL AHFKSFDLSR 550
    REAKAHCSCR SLAELVPGVG GIASLRCSSS GSTISILPSK ADNSPDSKIC 600
    FYDVEMDTVT VFDFKTGQID RRETLSFNEQ ETNKSHLFVD EGLKNYVPVN 650
    HFWDQSEPRL FVCEAVQETP RSQPQSANGQ PQDGRAGPAA DVLILSFFIS 700
    EEHGFLLHES FPRPATSHSL LGMEVPYYYF TRKPEEADRE DEVEPGCHHI 750
    PQMVSRRPLR DFVGLEDCDK ATRDAMLHFS FFVTIGDMDE AFKSIKLIKS 800
    EAVWENMARM CVKTQRLDVA KVCLGNMGHA RGARALREAE QEPELEARVA 850
    VLATQLGMLE DAEQLYRKCK RHDLLNKFYQ AAGRWQEALQ VAEHHDRVHL 900
    RSTYHRYAGH LEASADCSRA LSYYEKSDTH RFEVPRMLSE DLPSLELYVN 950
    KMKDKTLWRW WAQYLESQGE MDAALHYYEL ARDHFSLVRI HCFQGNVQKA 1000
    AQIANETGNL AASYHLARQY ESQEEVGQAV HFYTRAQAFK NAIRLCKENG 1050
    LDDQLMNLAL LSSPEDMIEA ARYYEEKGVQ MDRAVMLYHK AGHFSKALEL 1100
    AFATQQFVAL QLIAEDLDET SDPALLARCS DFFIEHSQYE RAVELLLAAR 1150
    KYQEALQLCL GQNMSITEEM AEKMTVAKDS SDLPEESRRE LLEQIADCCM 1200
    RQGSYHLATK KYTQAGNKLK AMRALLKSGD TEKITFFASV SRQKEIYIMA 1250
    ANYLQSLDWR KEPEIMKNII GFYTKGRALD LLAGFYDACA QVEIDEYQNY 1300
    DKAHGALTEA YKCLAKAKAK SPLDQETRLA QLQSRMALVK RFIQARRTYT 1350
    EDPKESIKQC ELLLEEPDLD STIRIGDVYG FLVEHYVRKE EYQTAYRFLE 1400
    EMRRRLPLAN MSYYVSPQAV DAVHRGLGLP LPRTVPEQVR HNSMEDAREL 1450
    DEEVVEEADD DP 1462
    Length:1,462
    Mass (Da):165,193
    Last modified:December 1, 2001 - v1
    Checksum:i2F3CCBD998F80E3B
    GO
    Isoform 2 (identifier: Q96RY7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-806: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:656
    Mass (Da):75,572
    Checksum:iA5D5629CAA150DC0
    GO

    Sequence cautioni

    The sequence BAA25516.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti542 – 5421H → L in BAA25516. (PubMed:9628581)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti110 – 1101R → H.1 Publication
    Corresponds to variant rs371077545 [ dbSNP | Ensembl ].
    VAR_070999
    Natural varianti152 – 1521L → F in SRTD9. 1 Publication
    VAR_071000
    Natural varianti161 – 1611P → T.1 Publication
    VAR_071001
    Natural varianti165 – 1651D → A.
    Corresponds to variant rs35588860 [ dbSNP | Ensembl ].
    VAR_053396
    Natural varianti212 – 2121G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068523
    Natural varianti233 – 2331I → M in SRTD9. 1 Publication
    VAR_068524
    Natural varianti243 – 2431E → G.1 Publication
    VAR_071002
    Natural varianti267 – 2671E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication
    VAR_071003
    Natural varianti279 – 2791R → P.
    Corresponds to variant rs4786350 [ dbSNP | Ensembl ].
    VAR_053397
    Natural varianti280 – 2801R → Q.
    Corresponds to variant rs35404373 [ dbSNP | Ensembl ].
    VAR_053398
    Natural varianti292 – 2921V → M in SRTD9; impairs centrosomal localization. 2 Publications
    VAR_068525
    Natural varianti311 – 3111Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068526
    Natural varianti398 – 3981V → I.
    Corresponds to variant rs34762152 [ dbSNP | Ensembl ].
    VAR_053399
    Natural varianti451 – 4511A → V.
    Corresponds to variant rs8060532 [ dbSNP | Ensembl ].
    VAR_053400
    Natural varianti459 – 4591W → S.1 Publication
    VAR_071004
    Natural varianti514 – 5141L → H.1 Publication
    Corresponds to variant rs150903791 [ dbSNP | Ensembl ].
    VAR_071005
    Natural varianti522 – 5221G → E in SRTD9. 2 Publications
    VAR_068527
    Natural varianti561 – 5611S → N.
    Corresponds to variant rs8050974 [ dbSNP | Ensembl ].
    VAR_062098
    Natural varianti576 – 5761R → Q in SRTD9. 1 Publication
    VAR_068528
    Natural varianti621 – 6211R → Q.
    Corresponds to variant rs11648609 [ dbSNP | Ensembl ].
    VAR_053401
    Natural varianti664 – 6641E → K in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 Publication
    VAR_068529
    Natural varianti670 – 6701P → S.
    Corresponds to variant rs34900355 [ dbSNP | Ensembl ].
    VAR_053402
    Natural varianti787 – 7871D → G.1 Publication
    Corresponds to variant rs144938800 [ dbSNP | Ensembl ].
    VAR_071006
    Natural varianti1070 – 10701A → V.1 Publication
    Corresponds to variant rs2235638 [ dbSNP | Ensembl ].
    VAR_053403
    Natural varianti1353 – 13531P → R.1 Publication
    VAR_071007
    Natural varianti1360 – 13601C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication
    VAR_071008

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 806806Missing in isoform 2. 1 PublicationVSP_056392Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011162 mRNA. Translation: BAA25516.2. Different initiation.
    AE006467 Genomic DNA. Translation: AAK61285.1.
    AL080069 mRNA. Translation: CAB45696.1.
    AL031705
    , AL031719, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26342.1.
    Z97633
    , AL031705, AL031719, AL133297, Z97652 Genomic DNA. Translation: CAM26352.1.
    AL031719
    , AL031705, AL133297, Z97633, Z97652 Genomic DNA. Translation: CAM26410.1.
    Z97652
    , AL031705, AL031719, AL133297, Z97633 Genomic DNA. Translation: CAM26430.1.
    AL133297
    , AL031705, AL031719, Z97633, Z97652 Genomic DNA. Translation: CAM26447.1.
    CH471112 Genomic DNA. Translation: EAW85642.1.
    CH471112 Genomic DNA. Translation: EAW85644.1.
    BC035577 mRNA. Translation: AAH35577.1.
    CCDSiCCDS10439.1.
    PIRiT00345.
    RefSeqiNP_055529.2. NM_014714.3.
    XP_006721052.1. XM_006720989.1.
    XP_006721053.1. XM_006720990.1.
    XP_006721054.1. XM_006720991.1.
    UniGeneiHs.389438.

    Genome annotation databases

    EnsembliENST00000361339; ENSP00000354895; ENSG00000187535.
    ENST00000426508; ENSP00000406012; ENSG00000187535.
    GeneIDi9742.
    KEGGihsa:9742.
    UCSCiuc002clz.3. human.

    Polymorphism databases

    DMDMi74761083.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011162 mRNA. Translation: BAA25516.2 . Different initiation.
    AE006467 Genomic DNA. Translation: AAK61285.1 .
    AL080069 mRNA. Translation: CAB45696.1 .
    AL031705
    , AL031719 , AL133297 , Z97633 , Z97652 Genomic DNA. Translation: CAM26342.1 .
    Z97633
    , AL031705 , AL031719 , AL133297 , Z97652 Genomic DNA. Translation: CAM26352.1 .
    AL031719
    , AL031705 , AL133297 , Z97633 , Z97652 Genomic DNA. Translation: CAM26410.1 .
    Z97652
    , AL031705 , AL031719 , AL133297 , Z97633 Genomic DNA. Translation: CAM26430.1 .
    AL133297
    , AL031705 , AL031719 , Z97633 , Z97652 Genomic DNA. Translation: CAM26447.1 .
    CH471112 Genomic DNA. Translation: EAW85642.1 .
    CH471112 Genomic DNA. Translation: EAW85644.1 .
    BC035577 mRNA. Translation: AAH35577.1 .
    CCDSi CCDS10439.1.
    PIRi T00345.
    RefSeqi NP_055529.2. NM_014714.3.
    XP_006721052.1. XM_006720989.1.
    XP_006721053.1. XM_006720990.1.
    XP_006721054.1. XM_006720991.1.
    UniGenei Hs.389438.

    3D structure databases

    ProteinModelPortali Q96RY7.
    SMRi Q96RY7. Positions 65-132, 195-220, 902-927, 955-1004.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115090. 4 interactions.
    IntActi Q96RY7. 5 interactions.
    MINTi MINT-8247576.
    STRINGi 9606.ENSP00000354895.

    PTM databases

    PhosphoSitei Q96RY7.

    Polymorphism databases

    DMDMi 74761083.

    Proteomic databases

    MaxQBi Q96RY7.
    PaxDbi Q96RY7.
    PRIDEi Q96RY7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361339 ; ENSP00000354895 ; ENSG00000187535 .
    ENST00000426508 ; ENSP00000406012 ; ENSG00000187535 .
    GeneIDi 9742.
    KEGGi hsa:9742.
    UCSCi uc002clz.3. human.

    Organism-specific databases

    CTDi 9742.
    GeneCardsi GC16M001560.
    HGNCi HGNC:29077. IFT140.
    HPAi HPA042197.
    MIMi 266920. phenotype.
    614620. gene.
    neXtProti NX_Q96RY7.
    Orphaneti 474. Jeune syndrome.
    140969. Saldino-Mainzer syndrome.
    PharmGKBi PA142671665.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG301450.
    HOGENOMi HOG000230867.
    HOVERGENi HBG055589.
    InParanoidi Q96RY7.
    OMAi KGRVAMW.
    PhylomeDBi Q96RY7.
    TreeFami TF105851.

    Enzyme and pathway databases

    SignaLinki Q96RY7.

    Miscellaneous databases

    ChiTaRSi IFT140. human.
    GenomeRNAii 9742.
    NextBioi 36659.
    PROi Q96RY7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96RY7.
    Bgeei Q96RY7.
    CleanExi HS_IFT140.
    Genevestigatori Q96RY7.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 1 hit.
    [Graphical view ]
    SMARTi SM00320. WD40. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 4 hits.
    PROSITEi PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-1070.
      Tissue: Brain.
    2. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 1).
      Tissue: Lymph.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1443, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "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.
    10. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS SRTD9 ARG-212; MET-233; MET-292; CYS-311; GLU-522; GLN-576 AND LYS-664, CHARACTERIZATION OF VARIANTS SRTD9 ARG-212; CYS-311 AND LYS-664.
    11. Cited for: SUBCELLULAR LOCATION, VARIANTS HIS-110; THR-161; GLY-243; SER-459; HIS-514; GLY-787 AND ARG-1353, VARIANTS SRTD9 PHE-152; GLY-267; MET-292; GLU-522 AND ARG-1360, CHARACTERIZATION OF VARIANT SRTD9 MET-292.

    Entry informationi

    Entry nameiIF140_HUMAN
    AccessioniPrimary (citable) accession number: Q96RY7
    Secondary accession number(s): A2A2A8
    , D3DU75, O60332, Q9UG52
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 110 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 16
      Human chromosome 16: 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