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Q8N157

- AHI1_HUMAN

UniProt

Q8N157 - AHI1_HUMAN

Protein

Jouberin

Gene

AHI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      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.By similarity

    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 polarized epithelial cell differentiation Source: UniProtKB
    15. positive regulation of receptor internalization Source: UniProtKB
    16. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    17. pronephric duct morphogenesis Source: UniProtKB
    18. pronephric nephron tubule morphogenesis Source: UniProtKB
    19. protein localization to organelle Source: Ensembl
    20. regulation of behavior Source: UniProtKB
    21. retina layer formation Source: UniProtKB
    22. specification of axis polarity Source: UniProtKB
    23. transmembrane receptor protein tyrosine kinase signaling pathway Source: UniProtKB
    24. vesicle-mediated transport Source: UniProtKB
    25. vesicle targeting Source: Ensembl

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    SignaLinkiQ8N157.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Jouberin
    Alternative name(s):
    Abelson helper integration site 1 protein homolog
    Short name:
    AHI-1
    Gene namesi
    Name:AHI1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21575. AHI1.

    Subcellular locationi

    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: Ensembl
    9. primary cilium Source: UniProtKB
    10. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 3 (JBTS3) [MIM:608629]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti351 – 3511R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 Publication
    VAR_071194
    Natural varianti443 – 4431V → D in JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions. 2 Publications
    VAR_023391
    Natural varianti723 – 7231R → Q in JBTS3. 1 Publication
    VAR_037894
    Natural varianti1086 – 10861E → G in JBTS3. 1 Publication
    Corresponds to variant rs148000791 [ dbSNP | Ensembl ].
    VAR_068171

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome

    Organism-specific databases

    MIMi608629. phenotype.
    Orphaneti220493. Joubert syndrome with ocular defect.
    PharmGKBiPA134874587.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11961196JouberinPRO_0000050838Add
    BLAST

    Proteomic databases

    MaxQBiQ8N157.
    PaxDbiQ8N157.
    PRIDEiQ8N157.

    PTM databases

    PhosphoSiteiQ8N157.

    Expressioni

    Tissue specificityi

    Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).3 Publications

    Inductioni

    Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia.1 Publication

    Gene expression databases

    ArrayExpressiQ8N157.
    BgeeiQ8N157.
    CleanExiHS_AHI1.
    GenevestigatoriQ8N157.

    Organism-specific databases

    HPAiHPA046684.

    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.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DNM2P505702EBI-1049056,EBI-346547

    Protein-protein interaction databases

    BioGridi120163. 3 interactions.
    IntActiQ8N157. 3 interactions.
    MINTiMINT-4716361.
    STRINGi9606.ENSP00000356774.

    Structurei

    Secondary structure

    1
    1196
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi1055 – 10606
    Beta strandi1077 – 10837
    Beta strandi1085 – 109410
    Beta strandi1097 – 11026
    Helixi1103 – 11053
    Beta strandi1106 – 11083
    Helixi1109 – 11146

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4ESRX-ray1.53A/B1048-1116[»]
    ProteinModelPortaliQ8N157.
    SMRiQ8N157. Positions 1052-1116.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati607 – 64943WD 1Add
    BLAST
    Repeati652 – 69140WD 2Add
    BLAST
    Repeati695 – 73541WD 3Add
    BLAST
    Repeati742 – 78140WD 4Add
    BLAST
    Repeati797 – 83741WD 5Add
    BLAST
    Repeati841 – 88040WD 6Add
    BLAST
    Repeati885 – 92642WD 7Add
    BLAST
    Domaini1051 – 111161SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni141 – 434294Interaction with HAP1Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili13 – 4533Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi234 – 2396Poly-Lys

    Sequence similaritiesi

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

    Keywords - Domaini

    Coiled coil, Repeat, SH3 domain, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOVERGENiHBG080824.
    InParanoidiQ8N157.
    KOiK16740.
    OMAiLIHTKDS.
    OrthoDBiEOG7ZPNJZ.
    PhylomeDBiQ8N157.
    TreeFamiTF329226.

    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. 3 hits.
    [Graphical view]
    PRINTSiPR00452. SH3DOMAIN.
    SMARTiSM00326. SH3. 1 hit.
    SM00320. WD40. 6 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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N157-1) [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

    MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR     50
    SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK 100
    LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV 150
    DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM 200
    AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS 250
    TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK 300
    PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH 350
    RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI 400
    LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL 450
    DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY 500
    PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM 550
    MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK 600
    HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL 650
    CGHLNIIYDL SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV 700
    YTAKFHPAVR ELVVTGCYDS MIRIWKVEMR EDSAILVRQF DVHKSFINSL 750
    CFDTEGHHMY SGDCTGVIVV WNTYVKINDL EHSVHHWTIN KEIKETEFKG 800
    IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA ANYREKIHST 850
    LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN 900
    MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC 950
    TCPKLPHQGS FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN 1000
    LSFTSPPAVS SQQSKLKQSN MLTAQEILHQ FGFTQTGIIS IERKPCNHQV 1050
    DTAPTVVALY DYTANRSDEL TIHRGDIIRV FFKDNEDWWY GSIGKGQEGY 1100
    FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP QKQSINKNKS 1150
    QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE 1196
    Length:1,196
    Mass (Da):137,115
    Last modified:October 1, 2002 - v1
    Checksum:i16A237C915DABF0F
    GO
    Isoform 2 (identifier: Q8N157-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1037-1053: GIISIERKPCNHQVDTA → DSHFAEFNTCILWWKKH
         1054-1196: Missing.

    Show »
    Length:1,053
    Mass (Da):120,853
    Checksum:i65D1BBEC361F9728
    GO
    Isoform 3 (identifier: Q8N157-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         594-609: ACRIPNKHLFSLNAGE → ENEDVFVLISPTMEEY
         610-1196: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

    Show »
    Length:609
    Mass (Da):70,047
    Checksum:i42CE037DC5397F84
    GO

    Sequence cautioni

    The sequence AAH29417.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence AAH65712.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence CAI20201.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20387.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI22523.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181E → K in CAB66731. (PubMed:11230166)Curated
    Sequence conflicti553 – 5531L → P in AAY99645. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491I → N.1 Publication
    VAR_037892
    Natural varianti351 – 3511R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 Publication
    VAR_071194
    Natural varianti443 – 4431V → D in JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions. 2 Publications
    VAR_023391
    Natural varianti548 – 5481R → H.1 Publication
    Corresponds to variant rs35433555 [ dbSNP | Ensembl ].
    VAR_037893
    Natural varianti723 – 7231R → Q in JBTS3. 1 Publication
    VAR_037894
    Natural varianti761 – 7611S → L.1 Publication
    VAR_037895
    Natural varianti830 – 8301R → W.1 Publication
    Corresponds to variant rs13312995 [ dbSNP | Ensembl ].
    VAR_037896
    Natural varianti856 – 8561T → S.1 Publication
    Corresponds to variant rs199736888 [ dbSNP | Ensembl ].
    VAR_037897
    Natural varianti933 – 9331Y → C.1 Publication
    Corresponds to variant rs41288013 [ dbSNP | Ensembl ].
    VAR_037898
    Natural varianti1018 – 10181Q → P.
    Corresponds to variant rs6940875 [ dbSNP | Ensembl ].
    VAR_037899
    Natural varianti1086 – 10861E → G in JBTS3. 1 Publication
    Corresponds to variant rs148000791 [ dbSNP | Ensembl ].
    VAR_068171
    Natural varianti1123 – 11231S → F.1 Publication
    Corresponds to variant rs117447608 [ dbSNP | Ensembl ].
    VAR_037900
    Natural varianti1140 – 11401P → S.1 Publication
    VAR_037901

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei594 – 60916ACRIP…LNAGE → ENEDVFVLISPTMEEY in isoform 3. 1 PublicationVSP_015353Add
    BLAST
    Alternative sequencei610 – 1196587Missing in isoform 3. 1 PublicationVSP_015354Add
    BLAST
    Alternative sequencei1037 – 105317GIISI…QVDTA → DSHFAEFNTCILWWKKH in isoform 2. 1 PublicationVSP_015355Add
    BLAST
    Alternative sequencei1054 – 1196143Missing in isoform 2. 1 PublicationVSP_015356Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ459824 mRNA. Translation: CAD30871.1.
    AJ459825 mRNA. Translation: CAD30872.1.
    AJ606362 mRNA. Translation: CAE54481.1.
    DQ090887 mRNA. Translation: AAY99645.1.
    AL136797 mRNA. Translation: CAB66731.1.
    AK092262 mRNA. Translation: BAC03840.1.
    AL023693, AL049552, AL133544 Genomic DNA. Translation: CAI20201.1. Sequence problems.
    AL049552, AL023693, AL133544 Genomic DNA. Translation: CAI20387.1. Sequence problems.
    AL133544, AL023693, AL049552 Genomic DNA. Translation: CAI22523.1. Sequence problems.
    CH471051 Genomic DNA. Translation: EAW47962.1.
    CH471051 Genomic DNA. Translation: EAW47963.1.
    BC029417 mRNA. Translation: AAH29417.1. Sequence problems.
    BC065712 mRNA. Translation: AAH65712.1. Sequence problems.
    BC094800 mRNA. Translation: AAH94800.1.
    CCDSiCCDS47483.1. [Q8N157-1]
    CCDS47484.1. [Q8N157-2]
    RefSeqiNP_001128302.1. NM_001134830.1. [Q8N157-1]
    NP_001128303.1. NM_001134831.1. [Q8N157-1]
    NP_001128304.1. NM_001134832.1. [Q8N157-2]
    NP_060121.3. NM_017651.4. [Q8N157-1]
    UniGeneiHs.386684.

    Genome annotation databases

    EnsembliENST00000265602; ENSP00000265602; ENSG00000135541. [Q8N157-1]
    ENST00000327035; ENSP00000322478; ENSG00000135541. [Q8N157-2]
    ENST00000367800; ENSP00000356774; ENSG00000135541. [Q8N157-1]
    ENST00000457866; ENSP00000388650; ENSG00000135541. [Q8N157-1]
    ENST00000531788; ENSP00000432167; ENSG00000135541. [Q8N157-3]
    GeneIDi54806.
    KEGGihsa:54806.
    UCSCiuc003qgh.3. human. [Q8N157-1]
    uc003qgl.3. human. [Q8N157-2]

    Polymorphism databases

    DMDMi73921659.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ459824 mRNA. Translation: CAD30871.1 .
    AJ459825 mRNA. Translation: CAD30872.1 .
    AJ606362 mRNA. Translation: CAE54481.1 .
    DQ090887 mRNA. Translation: AAY99645.1 .
    AL136797 mRNA. Translation: CAB66731.1 .
    AK092262 mRNA. Translation: BAC03840.1 .
    AL023693 , AL049552 , AL133544 Genomic DNA. Translation: CAI20201.1 . Sequence problems.
    AL049552 , AL023693 , AL133544 Genomic DNA. Translation: CAI20387.1 . Sequence problems.
    AL133544 , AL023693 , AL049552 Genomic DNA. Translation: CAI22523.1 . Sequence problems.
    CH471051 Genomic DNA. Translation: EAW47962.1 .
    CH471051 Genomic DNA. Translation: EAW47963.1 .
    BC029417 mRNA. Translation: AAH29417.1 . Sequence problems.
    BC065712 mRNA. Translation: AAH65712.1 . Sequence problems.
    BC094800 mRNA. Translation: AAH94800.1 .
    CCDSi CCDS47483.1. [Q8N157-1 ]
    CCDS47484.1. [Q8N157-2 ]
    RefSeqi NP_001128302.1. NM_001134830.1. [Q8N157-1 ]
    NP_001128303.1. NM_001134831.1. [Q8N157-1 ]
    NP_001128304.1. NM_001134832.1. [Q8N157-2 ]
    NP_060121.3. NM_017651.4. [Q8N157-1 ]
    UniGenei Hs.386684.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4ESR X-ray 1.53 A/B 1048-1116 [» ]
    ProteinModelPortali Q8N157.
    SMRi Q8N157. Positions 1052-1116.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120163. 3 interactions.
    IntActi Q8N157. 3 interactions.
    MINTi MINT-4716361.
    STRINGi 9606.ENSP00000356774.

    PTM databases

    PhosphoSitei Q8N157.

    Polymorphism databases

    DMDMi 73921659.

    Proteomic databases

    MaxQBi Q8N157.
    PaxDbi Q8N157.
    PRIDEi Q8N157.

    Protocols and materials databases

    DNASUi 54806.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265602 ; ENSP00000265602 ; ENSG00000135541 . [Q8N157-1 ]
    ENST00000327035 ; ENSP00000322478 ; ENSG00000135541 . [Q8N157-2 ]
    ENST00000367800 ; ENSP00000356774 ; ENSG00000135541 . [Q8N157-1 ]
    ENST00000457866 ; ENSP00000388650 ; ENSG00000135541 . [Q8N157-1 ]
    ENST00000531788 ; ENSP00000432167 ; ENSG00000135541 . [Q8N157-3 ]
    GeneIDi 54806.
    KEGGi hsa:54806.
    UCSCi uc003qgh.3. human. [Q8N157-1 ]
    uc003qgl.3. human. [Q8N157-2 ]

    Organism-specific databases

    CTDi 54806.
    GeneCardsi GC06M135646.
    GeneReviewsi AHI1.
    HGNCi HGNC:21575. AHI1.
    HPAi HPA046684.
    MIMi 608629. phenotype.
    608894. gene.
    neXtProti NX_Q8N157.
    Orphaneti 220493. Joubert syndrome with ocular defect.
    PharmGKBi PA134874587.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOVERGENi HBG080824.
    InParanoidi Q8N157.
    KOi K16740.
    OMAi LIHTKDS.
    OrthoDBi EOG7ZPNJZ.
    PhylomeDBi Q8N157.
    TreeFami TF329226.

    Enzyme and pathway databases

    SignaLinki Q8N157.

    Miscellaneous databases

    ChiTaRSi AHI1. human.
    GeneWikii AHI1.
    GenomeRNAii 54806.
    NextBioi 57511.
    PROi Q8N157.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N157.
    Bgeei Q8N157.
    CleanExi HS_AHI1.
    Genevestigatori Q8N157.

    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. 3 hits.
    [Graphical view ]
    PRINTSi PR00452. SH3DOMAIN.
    SMARTi SM00326. SH3. 1 hit.
    SM00320. WD40. 6 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. "Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults."
      Close J.P., Game L., Clark B., Bergounioux J., Gerovassili A., Thein S.L.
      BMC Genomics 5:33-33(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Small intestine.
    2. "Full sequence of DKFZp686J1653."
      Westin E.H., Zhang Y.
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "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] (ISOFORM 1).
    5. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-301.
      Tissue: Bone marrow and Testis.
    8. "Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia."
      Jiang X., Zhao Y., Chan W.-Y., Vercauteren S., Pang E., Kennedy S., Nicolini F., Eaves A., Eaves C.
      Blood 103:3897-3904(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, INDUCTION.
    9. "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome."
      Ferland R.J., Eyaid W., Collura R.V., Tully L.D., Hill R.S., Al-Nouri D., Al-Rumayyan A., Topcu M., Gascon G., Bodell A., Shugart Y.Y., Ruvolo M., Walsh C.A.
      Nat. Genet. 36:1008-1013(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, VARIANT JBTS3 ASP-443.
    10. "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, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions."
      Tuz K., Hsiao Y.C., Juarez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J.
      J. Biol. Chem. 288:13676-13694(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION; INTERACTION WITH NPHP1 AND HAP1, SELF-ASSOCIATION, VARIANT JBTS3 LEU-351, CHARACTERIZATION OF VARIANTS JBTS3 LEU-351 AND ASP-443.
    13. "Molecular and structural characterization of the SH3 domain of AHI-1 in regulation of cellular resistance of BCR-ABL(+) chronic myeloid leukemia cells to tyrosine kinase inhibitors."
      Liu X., Chen M., Lobo P., An J., Grace Cheng S.W., Moradian A., Morin G.B., Van Petegem F., Jiang X.
      Proteomics 12:2094-2106(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.53 ANGSTROMS) OF 1048-1116, INTERACTION WITH DNM2.
    14. "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: VARIANT JBTS3 ASP-443.
    15. Cited for: VARIANT JBTS3 GLN-723, VARIANTS ASN-49; HIS-548; LEU-761; TRP-830; SER-856; CYS-933; PHE-1123 AND SER-1140.
    16. Cited for: VARIANT JBTS3 GLY-1086.

    Entry informationi

    Entry nameiAHI1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N157
    Secondary accession number(s): E1P584
    , Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0, Q9H0H2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 114 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3