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Protein

Jouberin

Gene

Ahi1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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). As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).4 Publications

Miscellaneous

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCilium 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:87971 Ahi1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

Mutant mice, when surviving after birth, show retarded growth during the postnatal period, but do not develop severe cerebellar vermis hypoplasia or ataxia associated with cerebellar dysfunction (PubMed:23658157). Adult homozygous knockout mice have a small body size, with slightly reduced brain size compared with wild-type and heterozygous littermates. The overall brain morphology appears normal except for a smaller cerebellum and underdeveloped vermis with a mildly defective foliation pattern. Vermian lobules VI and VII appear fused, whereas lobule V appears smaller and underdeveloped at 3 weeks of age. Overall, the cerebellum is slightly hypoplastic (PubMed:21623382).2 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi206874, 30 interactors
CORUMiQ8K3E5
IntActiQ8K3E5, 18 interactors
MINTiQ8K3E5
STRINGi10090.ENSMUSP00000101164

Structurei

3D structure databases

ProteinModelPortaliQ8K3E5
SMRiQ8K3E5
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

Keywords - Domaini

Repeat, SH3 domain, WD repeat

Phylogenomic databases

eggNOGiENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA
HOGENOMiHOG000033864
HOVERGENiHBG080824
InParanoidiQ8K3E5
PhylomeDBiQ8K3E5

Family and domain databases

CDDicd11812 SH3_AHI-1, 1 hit
Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035832 AHI1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PF00400 WD40, 2 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00320 WD40, 7 hits
SUPFAMiSSF50044 SSF50044, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
PS50082 WD_REPEATS_2, 4 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9QP54E9QP54_MOUSE
Jouberin
Ahi1
1,047Annotation score:
A0A1L1SQE2A0A1L1SQE2_MOUSE
Jouberin
Ahi1
1,005Annotation score:
E9Q552E9Q552_MOUSE
Jouberin
Ahi1
142Annotation score:

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

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

3D structure databases

ProteinModelPortaliQ8K3E5
SMRiQ8K3E5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi206874, 30 interactors
CORUMiQ8K3E5
IntActiQ8K3E5, 18 interactors
MINTiQ8K3E5
STRINGi10090.ENSMUSP00000101164

PTM databases

iPTMnetiQ8K3E5
PhosphoSitePlusiQ8K3E5

Proteomic databases

PaxDbiQ8K3E5
PRIDEiQ8K3E5

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

MGIiMGI:87971 Ahi1

Phylogenomic databases

eggNOGiENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA
HOGENOMiHOG000033864
HOVERGENiHBG080824
InParanoidiQ8K3E5
PhylomeDBiQ8K3E5

Miscellaneous databases

ChiTaRSiAhi1 mouse
PROiPR:Q8K3E5
SOURCEiSearch...

Gene expression databases

CleanExiMM_AHI1

Family and domain databases

CDDicd11812 SH3_AHI-1, 1 hit
Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035832 AHI1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PF00400 WD40, 2 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00320 WD40, 7 hits
SUPFAMiSSF50044 SSF50044, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
PS50082 WD_REPEATS_2, 4 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAHI1_MOUSE
AccessioniPrimary (citable) accession number: Q8K3E5
Secondary accession number(s): Q7TNV2, Q9CVY1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: September 12, 2018
This is version 134 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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