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Protein

Jouberin

Gene

Ahi1

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

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).3 Publications

GO - Biological processi

  • cellular protein localization Source: UniProtKB
  • central nervous system development Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • cilium morphogenesis 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
  • non-motile cilium assembly Source: MGI
  • otic vesicle development Source: UniProtKB
  • photoreceptor cell outer segment organization Source: UniProtKB
  • 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 from RNA polymerase II promoter 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
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Differentiation

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
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:87971. Ahi1.

Subcellular locationi

GO - Cellular componenti

  • adherens junction Source: UniProtKB
  • cell-cell junction Source: UniProtKB
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • MKS complex Source: UniProtKB
  • non-motile cilium Source: UniProtKB
  • photoreceptor outer segment Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

AHI1 knockout mice, when surviving after birth, show retarded growth during the postnatal period and do not develop severe cerebellar vermis hypoplasia or ataxia associated with cerebellar dysfunction.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508391 – 1047JouberinAdd BLAST1047

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei853PhosphoserineBy similarity1
Modified residuei974PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8K3E5.
PRIDEiQ8K3E5.

PTM databases

iPTMnetiQ8K3E5.
PhosphoSitePlusiQ8K3E5.

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.

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).By similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Hap1O356683EBI-4280729,EBI-473704

Protein-protein interaction databases

BioGridi206874. 30 interactors.
IntActiQ8K3E5. 18 interactors.
STRINGi10090.ENSMUSP00000101164.

Structurei

3D structure databases

ProteinModelPortaliQ8K3E5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati457 – 499WD 1Add BLAST43
Repeati502 – 541WD 2Add BLAST40
Repeati545 – 585WD 3Add BLAST41
Repeati592 – 631WD 4Add BLAST40
Repeati648 – 687WD 5Add BLAST40
Repeati691 – 730WD 6Add BLAST40
Repeati735 – 776WD 7Add BLAST42
Domaini902 – 962SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 284Interaction with HAP1By similarityAdd BLAST284

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi87 – 94Poly-Lys8

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

eggNOGiENOG410IQ0Z. Eukaryota.
ENOG410XVKN. LUCA.
HOGENOMiHOG000033864.
HOVERGENiHBG080824.
InParanoidiQ8K3E5.
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. 2 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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti48Q → T in AAM94175 (PubMed:12186888).Curated1
Sequence conflicti194V → L in AAM94175 (PubMed:12186888).Curated1
Sequence conflicti227 – 234QYVKKDDS → H in BAB24355 (PubMed:16141072).Curated8
Sequence conflicti632T → H in AAH55400 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015357994 – 1005QSLSK…PLDPR → GGHEEETKSQTN in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0153581006 – 1047Missing in isoform 2. 1 PublicationAdd BLAST42

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.
CCDSiCCDS35860.1. [Q8K3E5-1]
UniGeneiMm.253280.
Mm.486431.

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS35860.1. [Q8K3E5-1]
UniGeneiMm.253280.
Mm.486431.

3D structure databases

ProteinModelPortaliQ8K3E5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi206874. 30 interactors.
IntActiQ8K3E5. 18 interactors.
STRINGi10090.ENSMUSP00000101164.

PTM databases

iPTMnetiQ8K3E5.
PhosphoSitePlusiQ8K3E5.

Proteomic databases

PaxDbiQ8K3E5.
PRIDEiQ8K3E5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

CTDi54806.
MGIiMGI:87971. Ahi1.

Phylogenomic databases

eggNOGiENOG410IQ0Z. Eukaryota.
ENOG410XVKN. LUCA.
HOGENOMiHOG000033864.
HOVERGENiHBG080824.
InParanoidiQ8K3E5.
PhylomeDBiQ8K3E5.

Miscellaneous databases

ChiTaRSiAhi1. mouse.
PROiQ8K3E5.
SOURCEiSearch...

Gene expression databases

CleanExiMM_AHI1.

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. 2 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 121 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.