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Q8K3E5

- AHI1_MOUSE

UniProt

Q8K3E5 - AHI1_MOUSE

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Protein

Jouberin

Gene

Ahi1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - 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
Complete GO annotation...

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
Complete GO annotation...

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
Hap1O356683EBI-4280729,EBI-473704

Protein-protein interaction databases

IntActiQ8K3E5. 18 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8K3E5.
SMRiQ8K3E5. Positions 448-801, 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

        10         20         30         40         50
MEPETPEKVD SAQEKVRGKT PTADDSDDSR EKTGIEEKGE LTDAYQLQVA
60 70 80 90 100
EEMAKEIKKK IRKKLKEQLT YFPPDTLLHD DKLASEKRKK KKKKVPVPTK
110 120 130 140 150
PESSPSDVCD SAVEGEQKKE GTPEDSQHME GICSREQDVD ATVPENAKPK
160 170 180 190 200
PKKTKKKTKA VSNDNEDTNG DGVHEITSRD SPVHPKCLLD DDLVMGVYIH
210 220 230 240 250
RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSERPVSS YYEKDNVDYI
260 270 280 290 300
LPIMTQPYDF KKLKSRLPEW EEQVIFNENF PYLLREFEEC PKVILFFEIL
310 320 330 340 350
DFLSMDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY
360 370 380 390 400
PPTKPRSQLN VVEVFEWWSK CPRNRYPSTL YVTVRGLKVP DCIKPSYRSM
410 420 430 440 450
MALQEERGTP VYCERHRETS SVDTEPGLED SKEEVKWKRL PGQACRIPNK
460 470 480 490 500
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL
510 520 530 540 550
CGHLNIIYDL DWSKDDRYLV TSSSDGTARV WKNEINSTST FRVLPHPSFV
560 570 580 590 600
YTAKFHPATR ELVVTGCYDS MIRIWKIDAR EDAAILVRQL DVHKSFVNSI
610 620 630 640 650
CFDDEGHHMY SGDCIGVIVV WDTYVKVNDV QTSVRHWTIN KEIKETEFRG
660 670 680 690 700
VPISYLEVHP NGKRLLIHTK DSTLRIMDLR ILAARKFVGA ANYREKIHST
710 720 730 740 750
LTPCGTLLFS GSEDGIVYVW NPETGEQVAM YSDLPFKSTI RDISYHPLEN
760 770 780 790 800
MVAFCAFGQS EPILLYIYDF QVAQQEAEML KRYSGTLPLP GIHQSEDALC
810 820 830 840 850
TCPKLPQQGS FQIDEFVNTE NSSSRKIQLV KQRLETVTEV IRSCAAKVNK
860 870 880 890 900
NLSMTSPPPG PAKKPRVKQS FVLTTDEIIH QFGLPQTAFI SIERGPFVRH
910 920 930 940 950
VDPPPMVVAL YDYTASRSDE LTIHRGDIIR VYFKDNEDWW YGSVRKGQEG
960 970 980 990 1000
FFPANHVASE TLYRDSPPKV KERSPPLTPK EKTKPEKPLA SQKQSLSKGR
1010 1020 1030 1040
PLDPRLGPQP VGHSEKGKDQ NVEDRGHKVD METKKSEPVV RKVTLIE
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 448-801, 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

« Hide 'large scale' publications
  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 29, 2014
This is version 103 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