Q8N157 (AHI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Jouberin

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

Gene names

Name:

AHI1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1196 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with NPHP1. Interacts with MKS1 By similarity. Ref.10
Subcellular location	Cytoplasm › cytoskeleton › cilium basal body By similarity. Cell junction › adherens junction Ref.10.
Tissue specificity	Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level). Ref.7 Ref.8 Ref.10
Induction	Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia. Ref.7
Involvement in disease	Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) [MIM:608629]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. Ref.8 Ref.12 Ref.13
Sequence similarities	Contains 1 SH3 domain. Contains 7 WD repeats.
Sequence caution	The sequence AAH29417.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH65712.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence CAI20201.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20387.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI22523.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cell junction Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Disease mutation Joubert syndrome
Domain	Coiled coil Repeat SH3 domain WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	adherens junction Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N157-1)

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: Q8N157-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1053: GIISIERKPCNHQVDTA → DSHFAEFNTCILWWKKH
     1054-1196: Missing.

Isoform 3 (identifier: Q8N157-3)

The sequence of this isoform differs from the canonical sequence as follows:
     594-609: ACRIPNKHLFSLNAGE → ENEDVFVLISPTMEEY
     610-1196: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1196	1196	Jouberin		PRO_0000050838
Regions
	Repeat	607 – 649	43	WD 1
	Repeat	652 – 691	40	WD 2
	Repeat	695 – 735	41	WD 3
	Repeat	742 – 781	40	WD 4
	Repeat	797 – 837	41	WD 5
	Repeat	841 – 880	40	WD 6
	Repeat	885 – 926	42	WD 7
	Domain	1051 – 1111	61	SH3
	Coiled coil	13 – 45	33	Potential
	Compositional bias	234 – 239	6	Poly-Lys
Amino acid modifications
	Modified residue	1123	1	Phosphoserine Ref.11
	Modified residue	1127	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	594 – 609	16	ACRIP…LNAGE → ENEDVFVLISPTMEEY in isoform 3.		VSP_015353
	Alternative sequence	610 – 1196	587	Missing in isoform 3.		VSP_015354
	Alternative sequence	1037 – 1053	17	GIISI…QVDTA → DSHFAEFNTCILWWKKH in isoform 2.		VSP_015355
	Alternative sequence	1054 – 1196	143	Missing in isoform 2.		VSP_015356
	Natural variant	49	1	I → N. Ref.13		VAR_037892
	Natural variant	443	1	V → D in JBTS3. Ref.8 Ref.12		VAR_023391
	Natural variant	548	1	R → H. Ref.13 Corresponds to variant rs35433555 [ dbSNP | Ensembl ].		VAR_037893
	Natural variant	723	1	R → Q in JBTS3. Ref.13		VAR_037894
	Natural variant	761	1	S → L. Ref.13		VAR_037895
	Natural variant	830	1	R → W. Ref.13 Corresponds to variant rs13312995 [ dbSNP | Ensembl ].		VAR_037896
	Natural variant	856	1	T → S. Ref.13		VAR_037897
	Natural variant	933	1	Y → C. Ref.13 Corresponds to variant rs41288013 [ dbSNP | Ensembl ].		VAR_037898
	Natural variant	1018	1	Q → P. Corresponds to variant rs6940875 [ dbSNP | Ensembl ].		VAR_037899
	Natural variant	1123	1	S → F. Ref.13		VAR_037900
	Natural variant	1140	1	P → S. Ref.13		VAR_037901
Experimental info
	Sequence conflict	18	1	E → K in CAB66731. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 16A237C915DABF0F	FASTA	1,196	137,115
	10 20 30 40 50 60 MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT 70 80 90 100 110 120 SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED 130 140 150 160 170 180 KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET 190 200 210 220 230 240 DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE 250 260 270 280 290 300 VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK 310 320 330 340 350 360 PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM 370 380 390 400 410 420 ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW 430 440 450 460 470 480 EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK 490 500 510 520 530 540 LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP 550 560 570 580 590 600 DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK 610 620 630 640 650 660 HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL 670 680 690 700 710 720 SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS 730 740 750 760 770 780 MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL 790 800 810 820 830 840 EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA 850 860 870 880 890 900 ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN 910 920 930 940 950 960 MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS 970 980 990 1000 1010 1020 FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN 1030 1040 1050 1060 1070 1080 MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV 1090 1100 1110 1120 1130 1140 FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP 1150 1160 1170 1180 1190 QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE
	Isoform 2 [UniParc]. Checksum: 65D1BBEC361F9728	FASTA	1,053	120,853
	10 20 30 40 50 60 MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT 70 80 90 100 110 120 SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED 130 140 150 160 170 180 KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET 190 200 210 220 230 240 DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE 250 260 270 280 290 300 VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK 310 320 330 340 350 360 PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM 370 380 390 400 410 420 ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW 430 440 450 460 470 480 EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK 490 500 510 520 530 540 LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP 550 560 570 580 590 600 DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK 610 620 630 640 650 660 HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL 670 680 690 700 710 720 SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS 730 740 750 760 770 780 MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL 790 800 810 820 830 840 EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA 850 860 870 880 890 900 ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN 910 920 930 940 950 960 MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS 970 980 990 1000 1010 1020 FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN 1030 1040 1050 MLTAQEILHQ FGFTQTDSHF AEFNTCILWW KKH
	Isoform 3 [UniParc]. Checksum: 42CE037DC5397F84	FASTA	609	70,047
	10 20 30 40 50 60 MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT 70 80 90 100 110 120 SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED 130 140 150 160 170 180 KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET 190 200 210 220 230 240 DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE 250 260 270 280 290 300 VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK 310 320 330 340 350 360 PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM 370 380 390 400 410 420 ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW 430 440 450 460 470 480 EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK 490 500 510 520 530 540 LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP 550 560 570 580 590 600 DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQENEDVFV LISPTMEEY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults." Close J.P., Game L., Clark B., Bergounioux J., Gerovassili A., Thein S.L. BMC Genomics 5:33-33(2004) [PubMed: 15169551] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Small intestine.
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-301. Tissue: Bone marrow and Testis.
[7]	"Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia." Jiang X., Zhao Y., Chan W.-Y., Vercauteren S., Pang E., Kennedy S., Nicolini F., Eaves A., Eaves C. Blood 103:3897-3904(2004) [PubMed: 14751929] [Abstract] Cited for: TISSUE SPECIFICITY, INDUCTION.
[8]	"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome." Ferland R.J., Eyaid W., Collura R.V., Tully L.D., Hill R.S., Al-Nouri D., Al-Rumayyan A., Topcu M., Gascon G., Bodell A., Shugart Y.Y., Ruvolo M., Walsh C.A. Nat. Genet. 36:1008-1013(2004) [PubMed: 15322546] [Abstract] Cited for: TISSUE SPECIFICITY, VARIANT JBTS3 ASP-443.
[9]	Erratum Ferland R.J., Eyaid W., Collura R.V., Tully L.D., Hill R.S., Al-Nouri D., Al-Rumayyan A., Topcu M., Gascon G., Bodell A., Shugart Y.Y., Ruvolo M., Walsh C.A. Nat. Genet. 36:1126-1126(2004)
[10]	"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: 18633336] [Abstract] Cited for: INTERACTION WITH NPHP1, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[11]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1123 AND SER-1127, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"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: 15467982] [Abstract] Cited for: VARIANT JBTS3 ASP-443.
[13]	"AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders." International JSRD study group Valente E.M., Brancati F., Silhavy J.L., Castori M., Marsh S.E., Barrano G., Bertini E., Boltshauser E., Zaki M.S., Abdel-Aleem A., Abdel-Salam G.M.H., Bellacchio E., Battini R., Cruse R.P., Dobyns W.B., Krishnamoorthy K.S., Lagier-Tourenne C., Magee A. , Pascual-Castroviejo I., Salpietro C.D., Sarco D., Dallapiccola B., Gleeson J.G. Ann. Neurol. 59:527-534(2006) [PubMed: 16453322] [Abstract] Cited for: VARIANT JBTS3 GLN-723, VARIANTS ASN-49; HIS-548; LEU-761; TRP-830; SER-856; CYS-933; PHE-1123 AND SER-1140.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ459824 mRNA. Translation: CAD30871.1. AJ459825 mRNA. Translation: CAD30872.1. AJ606362 mRNA. Translation: CAE54481.1. AL136797 mRNA. Translation: CAB66731.1. AK092262 mRNA. Translation: BAC03840.1. AL023693, AL049552, AL133544 Genomic DNA. Translation: CAI20201.1. Sequence problems. AL049552, AL023693, AL133544 Genomic DNA. Translation: CAI20387.1. Sequence problems. AL133544, AL023693, AL049552 Genomic DNA. Translation: CAI22523.1. Sequence problems. CH471051 Genomic DNA. Translation: EAW47962.1. CH471051 Genomic DNA. Translation: EAW47963.1. BC029417 mRNA. Translation: AAH29417.1. Sequence problems. BC065712 mRNA. Translation: AAH65712.1. Sequence problems. BC094800 mRNA. Translation: AAH94800.1.
IPI	IPI00165004. IPI00645606. IPI00645678.
RefSeq	NP_001128302.1. NM_001134830.1. NP_001128303.1. NM_001134831.1. NP_001128304.1. NM_001134832.1. NP_060121.3. NM_017651.4.
UniGene	Hs.386684.
3D structure databases
ProteinModelPortal	Q8N157.
SMR	Q8N157. Positions 599-921, 1052-1107.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8N157.
PTM databases
PhosphoSite	Q8N157.
Polymorphism databases
DMDM	73921659.
Proteomic databases
PRIDE	Q8N157.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367800; ENSP00000356774; ENSG00000135541. ENST00000367801; ENSP00000356775; ENSG00000135541. ENST00000457866; ENSP00000388650; ENSG00000135541.
GeneID	54806.
KEGG	hsa:54806.
UCSC	uc003qgh.1. human. uc003qgl.2. human.
Organism-specific databases
CTD	54806.
GeneCards	GC06M135646.
H-InvDB	HIX0006240.
HGNC	HGNC:21575. AHI1.
MIM	608629. phenotype. 608894. gene.
neXtProt	NX_Q8N157.
Orphanet	220493. Joubert syndrome with ocular defect.
PharmGKB	PA134874587.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG080824.
InParanoid	Q8N157.
OMA	ITSRDSP.
PhylomeDB	Q8N157.
Gene expression databases
ArrayExpress	Q8N157.
Bgee	Q8N157.
CleanEx	HS_AHI1.
Genevestigator	Q8N157.
GermOnline	ENSG00000135541. Homo sapiens.
Family and domain databases
InterPro	IPR001452. SH3_domain. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
Pfam	PF00018. SH3_1. 1 hit. PF00400. WD40. 5 hits. [Graphical view]
PRINTS	PR00452. SH3DOMAIN.
SMART	SM00326. SH3. 1 hit. SM00320. WD40. 6 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
NextBio	57511.
SOURCE	Search...

Entry information

Entry name

AHI1_HUMAN

Accession

Primary (citable) accession number: Q8N157
Secondary accession number(s): E1P584 , Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0, Q9H0H2

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.