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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1196 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 By similarity.
Subunit structure	Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 By similarity. Interacts with NPHP1. 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	Joubert syndrome 3 (JBTS3) [MIM:608629]: A 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. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.12 Ref.13 Ref.14
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
Biological process	Cilium biogenesis/degradation
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
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Kupffer's vesicle development Inferred from sequence or structural similarity. Source: UniProtKB cellular protein localization Inferred from sequence or structural similarity. Source: UniProtKB cilium assembly Inferred from sequence or structural similarity. Source: UniProtKB cloaca development Inferred from sequence or structural similarity. Source: UniProtKB heart looping Inferred from sequence or structural similarity. Source: UniProtKB hindbrain development Inferred from sequence or structural similarity. Source: UniProtKB left/right axis specification Inferred from sequence or structural similarity. Source: UniProtKB morphogenesis of a polarized epithelium Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process Inferred from sequence or structural similarity. Source: UniProtKB otic vesicle development Inferred from sequence or structural similarity. Source: UniProtKB photoreceptor cell outer segment organization Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of polarized epithelial cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of receptor internalization Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: UniProtKB pronephric duct morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB pronephric nephron tubule morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB protein localization to organelle Inferred from electronic annotation. Source: Compara regulation of behavior Inferred from sequence or structural similarity. Source: UniProtKB retina layer formation Inferred from sequence or structural similarity. Source: UniProtKB specification of axis polarity Inferred from sequence or structural similarity. Source: UniProtKB transmembrane receptor protein tyrosine kinase signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB vesicle-mediated transport Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	TCTN-B9D complex Inferred from sequence or structural similarity. Source: UniProtKB adherens junction Inferred from direct assay Ref.10. Source: UniProtKB cell-cell junction Inferred from direct assay Ref.10. Source: UniProtKB centriole Inferred from sequence or structural similarity. Source: UniProtKB microtubule basal body Inferred from direct assay Ref.10. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DNM2	P50570	2	EBI-1049056,EBI-346547

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

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

1086

1

E → G in JBTS3. Ref.14

VAR_068171

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

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

1196

Helix Strand Turn

Details...

Beta strand

1055 – 1060

6

Beta strand

1077 – 1083

7

Beta strand

1085 – 1094

10

Beta strand

1097 – 1102

6

Helix

1103 – 1105

3

Beta strand

1106 – 1108

3

Helix

1109 – 1114

6

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. 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] [Europe PMC] [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] [Europe PMC] [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.
[14]	"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population." Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L. Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT JBTS3 GLY-1086.
+	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

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
4ESR	X-ray	1.53	A/B	1048-1116	[»]

ProteinModelPortal

Q8N157.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8N157. 3 interactions.

STRING

9606.ENSP00000356774.

PTM databases

PhosphoSite

Q8N157.

Polymorphism databases

DMDM

73921659.

Proteomic databases

PaxDb

Q8N157.

PRIDE

Q8N157.

Protocols and materials databases

DNASU

54806.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000265602; ENSP00000265602; ENSG00000135541.
ENST00000327035; ENSP00000322478; ENSG00000135541.
ENST00000367800; ENSP00000356774; ENSG00000135541.
ENST00000457866; ENSP00000388650; ENSG00000135541.
ENST00000531788; ENSP00000432167; ENSG00000135541.

GeneID

54806.

KEGG

hsa:54806.

UCSC

uc003qgg.3. human.
uc003qgl.3. human.

Organism-specific databases

CTD

54806.

GeneCards

GC06M135646.

HGNC

HGNC:21575. AHI1.

HPA

HPA046684.

MIM

608629. phenotype.
608894. gene.

neXtProt

NX_Q8N157.

Orphanet

220493. Joubert syndrome with ocular defect.

PharmGKB

PA134874587.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG2319.

HOVERGEN

HBG080824.

InParanoid

Q8N157.

KO

K16740.

OMA

FKGIPIS.

PhylomeDB

Q8N157.

Gene expression databases

ArrayExpress

Q8N157.

Bgee

Q8N157.

CleanEx

HS_AHI1.

Genevestigator

Q8N157.

GermOnline

ENSG00000135541. Homo sapiens.

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. 4 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

ChiTaRS

AHI1. human.

GenomeRNAi

54806.

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:	May 1, 2013
This is version 100 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.