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Q8K3E5

- AHI1_MOUSE

UniProt

Q8K3E5 - AHI1_MOUSE

Protein

Jouberin

Gene

Ahi1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (30 Aug 2005)
      Previous versions | rss
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    Functioni

    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cellular protein localization Source: UniProtKB
    2. central nervous system development Source: UniProtKB
    3. cilium assembly Source: UniProtKB
    4. cilium morphogenesis Source: UniProtKB
    5. cloaca development Source: UniProtKB
    6. heart looping Source: UniProtKB
    7. hindbrain development Source: UniProtKB
    8. Kupffer's vesicle development Source: UniProtKB
    9. left/right axis specification Source: UniProtKB
    10. morphogenesis of a polarized epithelium Source: UniProtKB
    11. negative regulation of apoptotic process Source: UniProtKB
    12. otic vesicle development Source: UniProtKB
    13. photoreceptor cell outer segment organization Source: UniProtKB
    14. positive regulation of gene expression Source: MGI
    15. positive regulation of polarized epithelial cell differentiation Source: UniProtKB
    16. positive regulation of receptor internalization Source: UniProtKB
    17. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    18. pronephric duct morphogenesis Source: UniProtKB
    19. pronephric nephron tubule morphogenesis Source: UniProtKB
    20. protein localization to organelle Source: UniProtKB
    21. regulation of behavior Source: UniProtKB
    22. retina development in camera-type eye Source: MGI
    23. retina layer formation Source: UniProtKB
    24. specification of axis polarity Source: UniProtKB
    25. transmembrane receptor protein tyrosine kinase signaling pathway Source: UniProtKB
    26. vesicle-mediated transport Source: UniProtKB
    27. vesicle targeting Source: MGI

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Jouberin
    Alternative name(s):
    Abelson helper integration site 1 protein
    Short name:
    AHI-1
    Gene namesi
    Name:Ahi1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:87971. Ahi1.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body 1 Publication. Cell junctionadherens junction By similarity

    GO - Cellular componenti

    1. adherens junction Source: UniProtKB
    2. cell-cell junction Source: UniProtKB
    3. centriole Source: UniProtKB
    4. centrosome Source: UniProtKB
    5. ciliary basal body Source: UniProtKB
    6. cilium Source: UniProtKB
    7. nonmotile primary cilium Source: UniProtKB
    8. photoreceptor outer segment Source: MGI
    9. primary cilium Source: UniProtKB
    10. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10471047JouberinPRO_0000050839Add
    BLAST

    Proteomic databases

    MaxQBiQ8K3E5.
    PaxDbiQ8K3E5.
    PRIDEiQ8K3E5.

    PTM databases

    PhosphoSiteiQ8K3E5.

    Expressioni

    Tissue specificityi

    Highly expressed in the brain and testis. Weakly expressed in the liver. Strongly expressed during periods of both cortical and cerebellar development.2 Publications

    Developmental stagei

    First detected at embryonic days 7 (E7) and is also present at E11, E15 and E17 with the most high level at E15. Expression in whole brain is detected from E14 to adult. Expression in cerebellum appears maximal at E18 and postnatal days 5 (P5), whereas expression in cerebral cortex appears maximal at E16 and E18.1 Publication

    Gene expression databases

    CleanExiMM_AHI1.
    GenevestigatoriQ8K3E5.

    Interactioni

    Subunit structurei

    Self-associates. Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI12:NPHP12 heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI12:HAP12 heterotetramers.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Hap1O356682EBI-4280729,EBI-473704

    Protein-protein interaction databases

    IntActiQ8K3E5. 18 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8K3E5.
    SMRiQ8K3E5. Positions 430-801, 905-967.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati457 – 49943WD 1Add
    BLAST
    Repeati502 – 54140WD 2Add
    BLAST
    Repeati545 – 58541WD 3Add
    BLAST
    Repeati592 – 63140WD 4Add
    BLAST
    Repeati648 – 68740WD 5Add
    BLAST
    Repeati691 – 73040WD 6Add
    BLAST
    Repeati735 – 77642WD 7Add
    BLAST
    Domaini902 – 96261SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 284284Interaction with HAP1By similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi87 – 948Poly-Lys

    Sequence similaritiesi

    Contains 1 SH3 domain.PROSITE-ProRule annotation
    Contains 7 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, SH3 domain, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000033864.
    HOVERGENiHBG080824.
    InParanoidiQ8K3E5.
    KOiK16740.
    PhylomeDBiQ8K3E5.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR001452. SH3_domain.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00018. SH3_1. 1 hit.
    PF00400. WD40. 5 hits.
    [Graphical view]
    PRINTSiPR00452. SH3DOMAIN.
    SMARTiSM00326. SH3. 1 hit.
    SM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 1 hit.
    SSF50978. SSF50978. 1 hit.
    PROSITEiPS50002. SH3. 1 hit.
    PS50082. WD_REPEATS_2. 4 hits.
    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: Q8K3E5-1) [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

    MEPETPEKVD SAQEKVRGKT PTADDSDDSR EKTGIEEKGE LTDAYQLQVA     50
    EEMAKEIKKK IRKKLKEQLT YFPPDTLLHD DKLASEKRKK KKKKVPVPTK 100
    PESSPSDVCD SAVEGEQKKE GTPEDSQHME GICSREQDVD ATVPENAKPK 150
    PKKTKKKTKA VSNDNEDTNG DGVHEITSRD SPVHPKCLLD DDLVMGVYIH 200
    RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSERPVSS YYEKDNVDYI 250
    LPIMTQPYDF KKLKSRLPEW EEQVIFNENF PYLLREFEEC PKVILFFEIL 300
    DFLSMDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY 350
    PPTKPRSQLN VVEVFEWWSK CPRNRYPSTL YVTVRGLKVP DCIKPSYRSM 400
    MALQEERGTP VYCERHRETS SVDTEPGLED SKEEVKWKRL PGQACRIPNK 450
    HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL 500
    CGHLNIIYDL DWSKDDRYLV TSSSDGTARV WKNEINSTST FRVLPHPSFV 550
    YTAKFHPATR ELVVTGCYDS MIRIWKIDAR EDAAILVRQL DVHKSFVNSI 600
    CFDDEGHHMY SGDCIGVIVV WDTYVKVNDV QTSVRHWTIN KEIKETEFRG 650
    VPISYLEVHP NGKRLLIHTK DSTLRIMDLR ILAARKFVGA ANYREKIHST 700
    LTPCGTLLFS GSEDGIVYVW NPETGEQVAM YSDLPFKSTI RDISYHPLEN 750
    MVAFCAFGQS EPILLYIYDF QVAQQEAEML KRYSGTLPLP GIHQSEDALC 800
    TCPKLPQQGS FQIDEFVNTE NSSSRKIQLV KQRLETVTEV IRSCAAKVNK 850
    NLSMTSPPPG PAKKPRVKQS FVLTTDEIIH QFGLPQTAFI SIERGPFVRH 900
    VDPPPMVVAL YDYTASRSDE LTIHRGDIIR VYFKDNEDWW YGSVRKGQEG 950
    FFPANHVASE TLYRDSPPKV KERSPPLTPK EKTKPEKPLA SQKQSLSKGR 1000
    PLDPRLGPQP VGHSEKGKDQ NVEDRGHKVD METKKSEPVV RKVTLIE 1047
    Length:1,047
    Mass (Da):119,650
    Last modified:August 30, 2005 - v2
    Checksum:i91908C847218D4C0
    GO
    Isoform 2 (identifier: Q8K3E5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         994-1005: QSLSKGRPLDPR → GGHEEETKSQTN
         1006-1047: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,005
    Mass (Da):114,935
    Checksum:i63388F7CA53AE454
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti48 – 481Q → T in AAM94175. (PubMed:12186888)Curated
    Sequence conflicti194 – 1941V → L in AAM94175. (PubMed:12186888)Curated
    Sequence conflicti227 – 2348QYVKKDDS → H in BAB24355. (PubMed:16141072)Curated
    Sequence conflicti632 – 6321T → H in AAH55400. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei994 – 100512QSLSK…PLDPR → GGHEEETKSQTN in isoform 2. 1 PublicationVSP_015357Add
    BLAST
    Alternative sequencei1006 – 104742Missing in isoform 2. 1 PublicationVSP_015358Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY133241 mRNA. Translation: AAM94175.1.
    BC055400 mRNA. Translation: AAH55400.1.
    AK005991 mRNA. Translation: BAB24355.1.
    CCDSiCCDS35860.1. [Q8K3E5-1]
    RefSeqiXP_006512862.1. XM_006512799.1.
    UniGeneiMm.253280.
    Mm.486431.

    Genome annotation databases

    GeneIDi52906.
    KEGGimmu:52906.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY133241 mRNA. Translation: AAM94175.1 .
    BC055400 mRNA. Translation: AAH55400.1 .
    AK005991 mRNA. Translation: BAB24355.1 .
    CCDSi CCDS35860.1. [Q8K3E5-1 ]
    RefSeqi XP_006512862.1. XM_006512799.1.
    UniGenei Mm.253280.
    Mm.486431.

    3D structure databases

    ProteinModelPortali Q8K3E5.
    SMRi Q8K3E5. Positions 430-801, 905-967.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8K3E5. 18 interactions.

    PTM databases

    PhosphoSitei Q8K3E5.

    Proteomic databases

    MaxQBi Q8K3E5.
    PaxDbi Q8K3E5.
    PRIDEi Q8K3E5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 52906.
    KEGGi mmu:52906.

    Organism-specific databases

    CTDi 54806.
    MGIi MGI:87971. Ahi1.

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000033864.
    HOVERGENi HBG080824.
    InParanoidi Q8K3E5.
    KOi K16740.
    PhylomeDBi Q8K3E5.

    Miscellaneous databases

    PROi Q8K3E5.
    SOURCEi Search...

    Gene expression databases

    CleanExi MM_AHI1.
    Genevestigatori Q8K3E5.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR001452. SH3_domain.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00018. SH3_1. 1 hit.
    PF00400. WD40. 5 hits.
    [Graphical view ]
    PRINTSi PR00452. SH3DOMAIN.
    SMARTi SM00326. SH3. 1 hit.
    SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 1 hit.
    SSF50978. SSF50978. 1 hit.
    PROSITEi PS50002. SH3. 1 hit.
    PS50082. WD_REPEATS_2. 4 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations."
      Jiang X., Hanna Z., Kaouass M., Girard L., Jolicoeur P.
      J. Virol. 76:9046-9059(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Strain: C3H.
    2. "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: Eye.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-322.
      Strain: C57BL/6J.
      Tissue: Testis.
    4. "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria."
      Dixon-Salazar T., Silhavy J.L., Marsh S.E., Louie C.M., Scott L.C., Gururaj A., Al-Gazali L., Al-Tawari A.A., Kayserili H., Sztriha L., Gleeson J.G.
      Am. J. Hum. Genet. 75:979-987(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
    5. "Jouberin localizes to collecting ducts and interacts with nephrocystin-1."
      Eley L., Gabrielides C., Adams M., Johnson C.A., Hildebrandt F., Sayer J.A.
      Kidney Int. 74:1139-1149(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NPHP1, SUBCELLULAR LOCATION.
    6. Cited for: INTERACTION WITH MKS1.
    7. "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain."
      Chih B., Liu P., Chinn Y., Chalouni C., Komuves L.G., Hass P.E., Sandoval W., Peterson A.S.
      Nat. Cell Biol. 14:61-72(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX, FUNCTION.

    Entry informationi

    Entry nameiAHI1_MOUSE
    AccessioniPrimary (citable) accession number: Q8K3E5
    Secondary accession number(s): Q7TNV2, Q9CVY1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: August 30, 2005
    Last modified: October 1, 2014
    This is version 102 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Miscellaneous

    Is targeted by provirus integrations. This deregulation contributes to tumor development.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3