Q8K3E5 (AHI1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Jouberin

Alternative name(s):
Abelson helper integration site 1 protein
Short name=AHI-1

Gene names

Name:

Ahi1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1047 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.7
Subunit structure	Part of the tectonic-like complex (also named B9 complex). Interacts with NPHP1. Interacts with MKS1. Ref.5 Ref.6 Ref.7
Subcellular location	Cytoplasm › cytoskeleton › cilium basal body. Cell junction › adherens junction By similarity Ref.5.
Tissue specificity	Highly expressed in the brain and testis. Weakly expressed in the liver. Strongly expressed during periods of both cortical and cerebellar development. Ref.1 Ref.4
Developmental stage	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. Ref.4
Miscellaneous	Is targeted by provirus integrations. This deregulation contributes to tumor development.
Sequence similarities	Contains 1 SH3 domain. Contains 7 WD repeats.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell junction Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Domain	Repeat SH3 domain WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Kupffer's vesicle development Inferred from sequence or structural similarity. Source: UniProtKB cilium assembly Inferred from mutant phenotype PubMed 21959375. Source: UniProtKB cloaca development Inferred from genetic interaction PubMed 21959375. Source: UniProtKB heart looping Inferred from genetic interaction PubMed 21959375. Source: UniProtKB hindbrain development Inferred from genetic interaction PubMed 21959375. Source: UniProtKB left/right axis specification Inferred from sequence or structural similarity. Source: UniProtKB morphogenesis of a polarized epithelium Inferred from mutant phenotype PubMed 21959375. Source: UniProtKB negative regulation of apoptotic process Inferred from mutant phenotype PubMed 20081859. Source: UniProtKB otic vesicle development Inferred from genetic interaction PubMed 21959375. Source: UniProtKB photoreceptor cell outer segment organization Inferred from genetic interaction PubMed 20081859. Source: UniProtKB positive regulation of polarized epithelial cell differentiation Inferred from mutant phenotype PubMed 21959375. Source: UniProtKB positive regulation of receptor internalization Inferred from mutant phenotype PubMed 20956301. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype PubMed 20956301. Source: UniProtKB pronephric duct morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB pronephric nephron tubule morphogenesis Inferred from genetic interaction PubMed 21959375. Source: UniProtKB protein localization to organelle Inferred from mutant phenotype PubMed 19625297. Source: UniProtKB regulation of behavior Inferred from mutant phenotype PubMed 20956301. Source: UniProtKB retina layer formation Inferred from genetic interaction PubMed 21959375. Source: UniProtKB specification of axis polarity Inferred from genetic interaction PubMed 21959375. Source: UniProtKB transmembrane receptor protein tyrosine kinase signaling pathway Inferred from mutant phenotype PubMed 20956301. Source: UniProtKB vesicle-mediated transport Inferred from mutant phenotype PubMed 19625297. Source: UniProtKB
Cellular_component	TCTN-B9D complex Inferred from direct assay Ref.7. Source: UniProtKB adherens junction Inferred from sequence or structural similarity. Source: UniProtKB cell-cell junction Inferred from sequence or structural similarity. Source: UniProtKB centriole Inferred from direct assay PubMed 19625297. Source: UniProtKB microtubule basal body Inferred from direct assay PubMed 19625297PubMed 19718039PubMed 20081859. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8K3E5-1)

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.

Isoform 2 (identifier: Q8K3E5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     994-1005: QSLSKGRPLDPR → GGHEEETKSQTN
     1006-1047: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1047	1047	Jouberin		PRO_0000050839
Regions
	Repeat	457 – 499	43	WD 1
	Repeat	502 – 541	40	WD 2
	Repeat	545 – 585	41	WD 3
	Repeat	592 – 631	40	WD 4
	Repeat	648 – 687	40	WD 5
	Repeat	691 – 730	40	WD 6
	Repeat	735 – 776	42	WD 7
	Domain	902 – 962	61	SH3
	Compositional bias	87 – 94	8	Poly-Lys
Natural variations
	Alternative sequence	994 – 1005	12	QSLSK…PLDPR → GGHEEETKSQTN in isoform 2.		VSP_015357
	Alternative sequence	1006 – 1047	42	Missing in isoform 2.		VSP_015358
Experimental info
	Sequence conflict	48	1	Q → T in AAM94175. Ref.1
	Sequence conflict	194	1	V → L in AAM94175. Ref.1
	Sequence conflict	227 – 234	8	QYVKKDDS → H in BAB24355. Ref.3
	Sequence conflict	632	1	T → H in AAH55400. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 30, 2005. Version 2. Checksum: 91908C847218D4C0	FASTA	1,047	119,650
	10 20 30 40 50 60 MEPETPEKVD SAQEKVRGKT PTADDSDDSR EKTGIEEKGE LTDAYQLQVA EEMAKEIKKK 70 80 90 100 110 120 IRKKLKEQLT YFPPDTLLHD DKLASEKRKK KKKKVPVPTK PESSPSDVCD SAVEGEQKKE 130 140 150 160 170 180 GTPEDSQHME GICSREQDVD ATVPENAKPK PKKTKKKTKA VSNDNEDTNG DGVHEITSRD 190 200 210 220 230 240 SPVHPKCLLD DDLVMGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSERPVSS 250 260 270 280 290 300 YYEKDNVDYI LPIMTQPYDF KKLKSRLPEW EEQVIFNENF PYLLREFEEC PKVILFFEIL 310 320 330 340 350 360 DFLSMDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSQLN 370 380 390 400 410 420 VVEVFEWWSK CPRNRYPSTL YVTVRGLKVP DCIKPSYRSM MALQEERGTP VYCERHRETS 430 440 450 460 470 480 SVDTEPGLED SKEEVKWKRL PGQACRIPNK HLFSLNAGER GCFCLDFSHN GRILAAACAS 490 500 510 520 530 540 RDGYPIILYE IPSGRFMREL CGHLNIIYDL DWSKDDRYLV TSSSDGTARV WKNEINSTST 550 560 570 580 590 600 FRVLPHPSFV YTAKFHPATR ELVVTGCYDS MIRIWKIDAR EDAAILVRQL DVHKSFVNSI 610 620 630 640 650 660 CFDDEGHHMY SGDCIGVIVV WDTYVKVNDV QTSVRHWTIN KEIKETEFRG VPISYLEVHP 670 680 690 700 710 720 NGKRLLIHTK DSTLRIMDLR ILAARKFVGA ANYREKIHST LTPCGTLLFS GSEDGIVYVW 730 740 750 760 770 780 NPETGEQVAM YSDLPFKSTI RDISYHPLEN MVAFCAFGQS EPILLYIYDF QVAQQEAEML 790 800 810 820 830 840 KRYSGTLPLP GIHQSEDALC TCPKLPQQGS FQIDEFVNTE NSSSRKIQLV KQRLETVTEV 850 860 870 880 890 900 IRSCAAKVNK NLSMTSPPPG PAKKPRVKQS FVLTTDEIIH QFGLPQTAFI SIERGPFVRH 910 920 930 940 950 960 VDPPPMVVAL YDYTASRSDE LTIHRGDIIR VYFKDNEDWW YGSVRKGQEG FFPANHVASE 970 980 990 1000 1010 1020 TLYRDSPPKV KERSPPLTPK EKTKPEKPLA SQKQSLSKGR PLDPRLGPQP VGHSEKGKDQ 1030 1040 NVEDRGHKVD METKKSEPVV RKVTLIE
	Isoform 2 [UniParc]. Checksum: 63388F7CA53AE454	FASTA	1,005	114,935
	10 20 30 40 50 60 MEPETPEKVD SAQEKVRGKT PTADDSDDSR EKTGIEEKGE LTDAYQLQVA EEMAKEIKKK 70 80 90 100 110 120 IRKKLKEQLT YFPPDTLLHD DKLASEKRKK KKKKVPVPTK PESSPSDVCD SAVEGEQKKE 130 140 150 160 170 180 GTPEDSQHME GICSREQDVD ATVPENAKPK PKKTKKKTKA VSNDNEDTNG DGVHEITSRD 190 200 210 220 230 240 SPVHPKCLLD DDLVMGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSERPVSS 250 260 270 280 290 300 YYEKDNVDYI LPIMTQPYDF KKLKSRLPEW EEQVIFNENF PYLLREFEEC PKVILFFEIL 310 320 330 340 350 360 DFLSMDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSQLN 370 380 390 400 410 420 VVEVFEWWSK CPRNRYPSTL YVTVRGLKVP DCIKPSYRSM MALQEERGTP VYCERHRETS 430 440 450 460 470 480 SVDTEPGLED SKEEVKWKRL PGQACRIPNK HLFSLNAGER GCFCLDFSHN GRILAAACAS 490 500 510 520 530 540 RDGYPIILYE IPSGRFMREL CGHLNIIYDL DWSKDDRYLV TSSSDGTARV WKNEINSTST 550 560 570 580 590 600 FRVLPHPSFV YTAKFHPATR ELVVTGCYDS MIRIWKIDAR EDAAILVRQL DVHKSFVNSI 610 620 630 640 650 660 CFDDEGHHMY SGDCIGVIVV WDTYVKVNDV QTSVRHWTIN KEIKETEFRG VPISYLEVHP 670 680 690 700 710 720 NGKRLLIHTK DSTLRIMDLR ILAARKFVGA ANYREKIHST LTPCGTLLFS GSEDGIVYVW 730 740 750 760 770 780 NPETGEQVAM YSDLPFKSTI RDISYHPLEN MVAFCAFGQS EPILLYIYDF QVAQQEAEML 790 800 810 820 830 840 KRYSGTLPLP GIHQSEDALC TCPKLPQQGS FQIDEFVNTE NSSSRKIQLV KQRLETVTEV 850 860 870 880 890 900 IRSCAAKVNK NLSMTSPPPG PAKKPRVKQS FVLTTDEIIH QFGLPQTAFI SIERGPFVRH 910 920 930 940 950 960 VDPPPMVVAL YDYTASRSDE LTIHRGDIIR VYFKDNEDWW YGSVRKGQEG FFPANHVASE 970 980 990 1000 TLYRDSPPKV KERSPPLTPK EKTKPEKPLA SQKGGHEEET KSQTN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K. Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract] 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(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY133241 mRNA. Translation: AAM94175.1. BC055400 mRNA. Translation: AAH55400.1. AK005991 mRNA. Translation: BAB24355.1.
IPI	IPI00170079. IPI00649381.
UniGene	Mm.253280. Mm.486431.
3D structure databases
ProteinModelPortal	Q8K3E5.
SMR	Q8K3E5. Positions 430-801, 905-967.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8K3E5. 17 interactions.
PTM databases
PhosphoSite	Q8K3E5.
Proteomic databases
PaxDb	Q8K3E5.
PRIDE	Q8K3E5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
UCSC	uc007eod.2. mouse.
Organism-specific databases
MGI	MGI:87971. Ahi1.
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000033864.
HOVERGEN	HBG080824.
InParanoid	Q8K3E5.
OrthoDB	EOG4548XS.
Gene expression databases
CleanEx	MM_AHI1.
Genevestigator	Q8K3E5.
GermOnline	ENSMUSG00000019986. Mus musculus.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR001452. SH3_domain. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00018. SH3_1. 1 hit. PF00400. WD40. 5 hits. [Graphical view]
PRINTS	PR00452. SH3DOMAIN.
SMART	SM00326. SH3. 1 hit. SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF50044. SH3. 1 hit. SSF50978. WD40_like. 1 hit.
PROSITE	PS50002. SH3. 1 hit. PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 4 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

AHI1_MOUSE

Accession

Primary (citable) accession number: Q8K3E5
Secondary accession number(s): Q7TNV2, Q9CVY1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	August 30, 2005
Last modified:	May 1, 2013
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program