UniProtKB - Q8K3E5 (AHI1_MOUSE)
Jouberin
Ahi1
Functioni
Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium (PubMed:19625297).
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 (PubMed:22179047).
Involved in neuronal differentiation (PubMed:23658157).
As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).
4 PublicationsMiscellaneous
GO - Molecular functioni
- identical protein binding Source: MGI
GO - Biological processi
- cellular protein localization Source: UniProtKB
- central nervous system development Source: UniProtKB
- cilium assembly Source: UniProtKB
- cloaca development Source: UniProtKB
- eye photoreceptor cell development Source: CACAO
- heart looping Source: UniProtKB
- hindbrain development Source: UniProtKB
- Kupffer's vesicle development Source: UniProtKB
- left/right axis specification Source: UniProtKB
- morphogenesis of a polarized epithelium Source: UniProtKB
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of glucose import Source: MGI
- non-motile cilium assembly Source: MGI
- otic vesicle development Source: UniProtKB
- photoreceptor cell outer segment organization Source: MGI
- positive regulation of gene expression Source: MGI
- positive regulation of growth Source: CACAO
- positive regulation of neuron projection development Source: CACAO
- positive regulation of polarized epithelial cell differentiation Source: UniProtKB
- positive regulation of receptor internalization Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- pronephric duct morphogenesis Source: UniProtKB
- pronephric nephron tubule morphogenesis Source: UniProtKB
- protein localization to organelle Source: MGI
- regulation of behavior Source: UniProtKB
- regulation of protein secretion Source: CACAO
- retina development in camera-type eye Source: MGI
- retina layer formation Source: UniProtKB
- retinal cone cell development Source: CACAO
- retinal rod cell development Source: CACAO
- specification of axis polarity Source: UniProtKB
- transmembrane receptor protein tyrosine kinase signaling pathway Source: UniProtKB
- vesicle-mediated transport Source: UniProtKB
- vesicle targeting Source: MGI
Keywordsi
Molecular function | Developmental protein |
Biological process | Cilium biogenesis/degradation, Differentiation |
Enzyme and pathway databases
Reactomei | R-MMU-5620912, Anchoring of the basal body to the plasma membrane |
Names & Taxonomyi
Protein namesi | Recommended name: JouberinAlternative name(s): Abelson helper integration site 1 protein Short name: AHI-1 |
Gene namesi | Name:Ahi1 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:87971, Ahi1 |
Subcellular locationi
Cytoskeleton
- cilium basal body 3 Publications
- centriole 1 Publication
Other locations
- adherens junction By similarity
Note: In the retinal photoreceptor cell layer, localizes at the connecting cilium.1 Publication
Cytoskeleton
- centriole Source: UniProtKB
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
Other locations
- adherens junction Source: UniProtKB
- cell-cell junction Source: UniProtKB
- cilium Source: UniProtKB
- cytoplasm Source: MGI
- MKS complex Source: UniProtKB
- non-motile cilium Source: UniProtKB
- photoreceptor distal connecting cilium Source: MGI
- photoreceptor outer segment Source: MGI
Keywords - Cellular componenti
Cell junction, Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Disruption phenotypei
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050839 | 1 – 1047 | JouberinAdd BLAST | 1047 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 853 | PhosphoserineBy similarity | 1 | |
Modified residuei | 974 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MaxQBi | Q8K3E5 |
PaxDbi | Q8K3E5 |
PRIDEi | Q8K3E5 |
ProteomicsDBi | 296142 [Q8K3E5-1] 296143 [Q8K3E5-2] |
PTM databases
iPTMneti | Q8K3E5 |
PhosphoSitePlusi | Q8K3E5 |
Expressioni
Tissue specificityi
Developmental stagei
Interactioni
Subunit structurei
Self-associates (By similarity). Part of the tectonic-like complex (also named B9 complex) (PubMed:22179047).
Interacts with MKS1 (PubMed:21565611).
Interacts with NPHP1; probably as heterodimers and/or AHI12:NPHP12 heterotetramers (PubMed:18633336).
Interacts (via SH3 domain) with the dynamin GTPase DNM2 (By similarity).
Interacts with HAP1; probably as AHI12:HAP12 heterotetramers (By similarity) (PubMed:23658157).
Interacts with RAB8A (PubMed:19625297).
Interacts with CEND1 (PubMed:23658157).
Interacts with SPATA7 (PubMed:29899041).
By similarity6 PublicationsBinary interactionsi
Q8K3E5
With | #Exp. | IntAct |
---|---|---|
Hap1 [O35668] | 3 | EBI-4280729,EBI-473704 |
GO - Molecular functioni
- identical protein binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 206874, 32 interactors |
CORUMi | Q8K3E5 |
IntActi | Q8K3E5, 18 interactors |
MINTi | Q8K3E5 |
STRINGi | 10090.ENSMUSP00000101164 |
Miscellaneous databases
RNActi | Q8K3E5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 457 – 499 | WD 1Add BLAST | 43 | |
Repeati | 502 – 541 | WD 2Add BLAST | 40 | |
Repeati | 545 – 585 | WD 3Add BLAST | 41 | |
Repeati | 592 – 631 | WD 4Add BLAST | 40 | |
Repeati | 648 – 687 | WD 5Add BLAST | 40 | |
Repeati | 691 – 730 | WD 6Add BLAST | 40 | |
Repeati | 735 – 776 | WD 7Add BLAST | 42 | |
Domaini | 902 – 962 | SH3PROSITE-ProRule annotationAdd BLAST | 61 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 284 | Interaction with HAP1By similarityAdd BLAST | 284 | |
Regioni | 1 – 40 | DisorderedSequence analysisAdd BLAST | 40 | |
Regioni | 67 – 181 | DisorderedSequence analysisAdd BLAST | 115 | |
Regioni | 963 – 1047 | DisorderedSequence analysisAdd BLAST | 85 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 39 | Basic and acidic residuesSequence analysisAdd BLAST | 39 | |
Compositional biasi | 112 – 149 | Basic and acidic residuesSequence analysisAdd BLAST | 38 | |
Compositional biasi | 158 – 181 | Basic and acidic residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 965 – 988 | Basic and acidic residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 1016 – 1041 | Basic and acidic residuesSequence analysisAdd BLAST | 26 |
Keywords - Domaini
Repeat, SH3 domain, WD repeatPhylogenomic databases
eggNOGi | KOG0266, Eukaryota |
InParanoidi | Q8K3E5 |
PhylomeDBi | Q8K3E5 |
Family and domain databases
CDDi | cd11812, SH3_AHI-1, 1 hit |
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR035832, AHI1_SH3 IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00018, SH3_1, 1 hit PF00400, WD40, 2 hits |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00326, SH3, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF50044, SSF50044, 1 hit SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9QP54 | E9QP54_MOUSE | Jouberin | Ahi1 | 1,047 | Annotation score: | ||
A0A1L1SQE2 | A0A1L1SQE2_MOUSE | Jouberin | Ahi1 | 1,005 | Annotation score: | ||
E9Q552 | E9Q552_MOUSE | Jouberin | Ahi1 | 142 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 48 | Q → T in AAM94175 (PubMed:12186888).Curated | 1 | |
Sequence conflicti | 194 | V → L in AAM94175 (PubMed:12186888).Curated | 1 | |
Sequence conflicti | 227 – 234 | QYVKKDDS → H in BAB24355 (PubMed:16141072).Curated | 8 | |
Sequence conflicti | 632 | T → H in AAH55400 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015357 | 994 – 1005 | QSLSK…PLDPR → GGHEEETKSQTN in isoform 2. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_015358 | 1006 – 1047 | Missing in isoform 2. 1 PublicationAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY133241 mRNA Translation: AAM94175.1 BC055400 mRNA Translation: AAH55400.1 AK005991 mRNA Translation: BAB24355.1 |
CCDSi | CCDS35860.1 [Q8K3E5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY133241 mRNA Translation: AAM94175.1 BC055400 mRNA Translation: AAH55400.1 AK005991 mRNA Translation: BAB24355.1 |
CCDSi | CCDS35860.1 [Q8K3E5-1] |
3D structure databases
AlphaFoldDBi | Q8K3E5 |
SMRi | Q8K3E5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 206874, 32 interactors |
CORUMi | Q8K3E5 |
IntActi | Q8K3E5, 18 interactors |
MINTi | Q8K3E5 |
STRINGi | 10090.ENSMUSP00000101164 |
PTM databases
iPTMneti | Q8K3E5 |
PhosphoSitePlusi | Q8K3E5 |
Proteomic databases
MaxQBi | Q8K3E5 |
PaxDbi | Q8K3E5 |
PRIDEi | Q8K3E5 |
ProteomicsDBi | 296142 [Q8K3E5-1] 296143 [Q8K3E5-2] |
Organism-specific databases
MGIi | MGI:87971, Ahi1 |
Phylogenomic databases
eggNOGi | KOG0266, Eukaryota |
InParanoidi | Q8K3E5 |
PhylomeDBi | Q8K3E5 |
Enzyme and pathway databases
Reactomei | R-MMU-5620912, Anchoring of the basal body to the plasma membrane |
Miscellaneous databases
ChiTaRSi | Ahi1, mouse |
PROi | PR:Q8K3E5 |
RNActi | Q8K3E5, protein |
SOURCEi | Search... |
Family and domain databases
CDDi | cd11812, SH3_AHI-1, 1 hit |
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR035832, AHI1_SH3 IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF00018, SH3_1, 1 hit PF00400, WD40, 2 hits |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00326, SH3, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF50044, SSF50044, 1 hit SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50002, SH3, 1 hit PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | AHI1_MOUSE | |
Accessioni | Q8K3E5Primary (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: | May 25, 2022 | |
This is version 150 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot