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Q8N157

- AHI1_HUMAN

UniProt

Q8N157 - AHI1_HUMAN

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Protein

Jouberin

Gene

AHI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  1. cellular protein localization Source: UniProtKB
  2. central nervous system development Source: UniProtKB
  3. cilium assembly Source: UniProtKB
  4. cilium morphogenesis Source: UniProtKB
  5. cloaca development Source: UniProtKB
  6. heart looping Source: UniProtKB
  7. hindbrain development Source: UniProtKB
  8. Kupffer's vesicle development Source: UniProtKB
  9. left/right axis specification Source: UniProtKB
  10. morphogenesis of a polarized epithelium Source: UniProtKB
  11. negative regulation of apoptotic process Source: UniProtKB
  12. otic vesicle development Source: UniProtKB
  13. photoreceptor cell outer segment organization Source: UniProtKB
  14. positive regulation of polarized epithelial cell differentiation Source: UniProtKB
  15. positive regulation of receptor internalization Source: UniProtKB
  16. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  17. pronephric duct morphogenesis Source: UniProtKB
  18. pronephric nephron tubule morphogenesis Source: UniProtKB
  19. protein localization to organelle Source: Ensembl
  20. regulation of behavior Source: UniProtKB
  21. retina layer formation Source: UniProtKB
  22. specification of axis polarity Source: UniProtKB
  23. transmembrane receptor protein tyrosine kinase signaling pathway Source: UniProtKB
  24. vesicle-mediated transport Source: UniProtKB
  25. vesicle targeting Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ8N157.

Names & Taxonomyi

Protein namesi
Recommended name:
Jouberin
Alternative name(s):
Abelson helper integration site 1 protein homolog
Short name:
AHI-1
Gene namesi
Name:AHI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21575. AHI1.

Subcellular locationi

GO - Cellular componenti

  1. adherens junction Source: UniProtKB
  2. cell-cell junction Source: UniProtKB
  3. centriole Source: UniProtKB
  4. centrosome Source: UniProtKB
  5. ciliary basal body Source: UniProtKB
  6. cilium Source: UniProtKB
  7. nonmotile primary cilium Source: UniProtKB
  8. photoreceptor outer segment Source: Ensembl
  9. primary cilium Source: UniProtKB
  10. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti351 – 3511R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 Publication
VAR_071194
Natural varianti443 – 4431V → D in JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions. 2 Publications
VAR_023391
Natural varianti723 – 7231R → Q in JBTS3. 1 Publication
VAR_037894
Natural varianti1086 – 10861E → G in JBTS3. 1 Publication
Corresponds to variant rs148000791 [ dbSNP | Ensembl ].
VAR_068171

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

MIMi608629. phenotype.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBiPA134874587.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11961196JouberinPRO_0000050838Add
BLAST

Proteomic databases

MaxQBiQ8N157.
PaxDbiQ8N157.
PRIDEiQ8N157.

PTM databases

PhosphoSiteiQ8N157.

Expressioni

Tissue specificityi

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).3 Publications

Inductioni

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.1 Publication

Gene expression databases

BgeeiQ8N157.
CleanExiHS_AHI1.
ExpressionAtlasiQ8N157. baseline and differential.
GenevestigatoriQ8N157.

Organism-specific databases

HPAiHPA046684.

Interactioni

Subunit structurei

Self-associates. Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI12:NPHP12 heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI12:HAP12 heterotetramers.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1049056,EBI-1049056
DNM2P505702EBI-1049056,EBI-346547
HAP1P542573EBI-1049056,EBI-712814
NPHP1O152594EBI-1049056,EBI-953828

Protein-protein interaction databases

BioGridi120163. 3 interactions.
IntActiQ8N157. 6 interactions.
MINTiMINT-4716361.
STRINGi9606.ENSP00000356774.

Structurei

Secondary structure

1
1196
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1055 – 10606
Beta strandi1077 – 10837
Beta strandi1085 – 109410
Beta strandi1097 – 11026
Helixi1103 – 11053
Beta strandi1106 – 11083
Helixi1109 – 11146

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ESRX-ray1.53A/B1048-1116[»]
ProteinModelPortaliQ8N157.
SMRiQ8N157. Positions 1052-1116.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati607 – 64943WD 1Add
BLAST
Repeati652 – 69140WD 2Add
BLAST
Repeati695 – 73541WD 3Add
BLAST
Repeati742 – 78140WD 4Add
BLAST
Repeati797 – 83741WD 5Add
BLAST
Repeati841 – 88040WD 6Add
BLAST
Repeati885 – 92642WD 7Add
BLAST
Domaini1051 – 111161SH3PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni141 – 434294Interaction with HAP1Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili13 – 4533Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi234 – 2396Poly-Lys

Sequence similaritiesi

Contains 1 SH3 domain.PROSITE-ProRule annotation
Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, SH3 domain, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00530000063479.
HOVERGENiHBG080824.
InParanoidiQ8N157.
KOiK16740.
OMAiLIHTKDS.
OrthoDBiEOG7ZPNJZ.
PhylomeDBiQ8N157.
TreeFamiTF329226.

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. 3 hits.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
SM00320. WD40. 6 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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N157-1) [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
MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR
60 70 80 90 100
SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK
110 120 130 140 150
LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV
160 170 180 190 200
DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM
210 220 230 240 250
AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS
260 270 280 290 300
TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
310 320 330 340 350
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH
360 370 380 390 400
RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI
410 420 430 440 450
LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL
460 470 480 490 500
DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY
510 520 530 540 550
PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM
560 570 580 590 600
MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
610 620 630 640 650
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL
660 670 680 690 700
CGHLNIIYDL SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV
710 720 730 740 750
YTAKFHPAVR ELVVTGCYDS MIRIWKVEMR EDSAILVRQF DVHKSFINSL
760 770 780 790 800
CFDTEGHHMY SGDCTGVIVV WNTYVKINDL EHSVHHWTIN KEIKETEFKG
810 820 830 840 850
IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA ANYREKIHST
860 870 880 890 900
LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
910 920 930 940 950
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC
960 970 980 990 1000
TCPKLPHQGS FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN
1010 1020 1030 1040 1050
LSFTSPPAVS SQQSKLKQSN MLTAQEILHQ FGFTQTGIIS IERKPCNHQV
1060 1070 1080 1090 1100
DTAPTVVALY DYTANRSDEL TIHRGDIIRV FFKDNEDWWY GSIGKGQEGY
1110 1120 1130 1140 1150
FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP QKQSINKNKS
1160 1170 1180 1190
QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE
Length:1,196
Mass (Da):137,115
Last modified:October 1, 2002 - v1
Checksum:i16A237C915DABF0F
GO
Isoform 2 (identifier: Q8N157-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,053
Mass (Da):120,853
Checksum:i65D1BBEC361F9728
GO
Isoform 3 (identifier: Q8N157-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:609
Mass (Da):70,047
Checksum:i42CE037DC5397F84
GO

Sequence cautioni

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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti18 – 181E → K in CAB66731. (PubMed:11230166)Curated
Sequence conflicti553 – 5531L → P in AAY99645. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491I → N.1 Publication
VAR_037892
Natural varianti351 – 3511R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 Publication
VAR_071194
Natural varianti443 – 4431V → D in JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions. 2 Publications
VAR_023391
Natural varianti548 – 5481R → H.1 Publication
Corresponds to variant rs35433555 [ dbSNP | Ensembl ].
VAR_037893
Natural varianti723 – 7231R → Q in JBTS3. 1 Publication
VAR_037894
Natural varianti761 – 7611S → L.1 Publication
VAR_037895
Natural varianti830 – 8301R → W.1 Publication
Corresponds to variant rs13312995 [ dbSNP | Ensembl ].
VAR_037896
Natural varianti856 – 8561T → S.1 Publication
Corresponds to variant rs199736888 [ dbSNP | Ensembl ].
VAR_037897
Natural varianti933 – 9331Y → C.1 Publication
Corresponds to variant rs41288013 [ dbSNP | Ensembl ].
VAR_037898
Natural varianti1018 – 10181Q → P.
Corresponds to variant rs6940875 [ dbSNP | Ensembl ].
VAR_037899
Natural varianti1086 – 10861E → G in JBTS3. 1 Publication
Corresponds to variant rs148000791 [ dbSNP | Ensembl ].
VAR_068171
Natural varianti1123 – 11231S → F.1 Publication
Corresponds to variant rs117447608 [ dbSNP | Ensembl ].
VAR_037900
Natural varianti1140 – 11401P → S.1 Publication
VAR_037901

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei594 – 60916ACRIP…LNAGE → ENEDVFVLISPTMEEY in isoform 3. 1 PublicationVSP_015353Add
BLAST
Alternative sequencei610 – 1196587Missing in isoform 3. 1 PublicationVSP_015354Add
BLAST
Alternative sequencei1037 – 105317GIISI…QVDTA → DSHFAEFNTCILWWKKH in isoform 2. 1 PublicationVSP_015355Add
BLAST
Alternative sequencei1054 – 1196143Missing in isoform 2. 1 PublicationVSP_015356Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ459824 mRNA. Translation: CAD30871.1.
AJ459825 mRNA. Translation: CAD30872.1.
AJ606362 mRNA. Translation: CAE54481.1.
DQ090887 mRNA. Translation: AAY99645.1.
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.
CCDSiCCDS47483.1. [Q8N157-1]
CCDS47484.1. [Q8N157-2]
RefSeqiNP_001128302.1. NM_001134830.1. [Q8N157-1]
NP_001128303.1. NM_001134831.1. [Q8N157-1]
NP_001128304.1. NM_001134832.1. [Q8N157-2]
NP_060121.3. NM_017651.4. [Q8N157-1]
UniGeneiHs.386684.

Genome annotation databases

EnsembliENST00000265602; ENSP00000265602; ENSG00000135541. [Q8N157-1]
ENST00000327035; ENSP00000322478; ENSG00000135541. [Q8N157-2]
ENST00000367800; ENSP00000356774; ENSG00000135541. [Q8N157-1]
ENST00000457866; ENSP00000388650; ENSG00000135541. [Q8N157-1]
ENST00000531788; ENSP00000432167; ENSG00000135541. [Q8N157-3]
GeneIDi54806.
KEGGihsa:54806.
UCSCiuc003qgh.3. human. [Q8N157-1]
uc003qgl.3. human. [Q8N157-2]

Polymorphism databases

DMDMi73921659.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ459824 mRNA. Translation: CAD30871.1 .
AJ459825 mRNA. Translation: CAD30872.1 .
AJ606362 mRNA. Translation: CAE54481.1 .
DQ090887 mRNA. Translation: AAY99645.1 .
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 .
CCDSi CCDS47483.1. [Q8N157-1 ]
CCDS47484.1. [Q8N157-2 ]
RefSeqi NP_001128302.1. NM_001134830.1. [Q8N157-1 ]
NP_001128303.1. NM_001134831.1. [Q8N157-1 ]
NP_001128304.1. NM_001134832.1. [Q8N157-2 ]
NP_060121.3. NM_017651.4. [Q8N157-1 ]
UniGenei Hs.386684.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4ESR X-ray 1.53 A/B 1048-1116 [» ]
ProteinModelPortali Q8N157.
SMRi Q8N157. Positions 1052-1116.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120163. 3 interactions.
IntActi Q8N157. 6 interactions.
MINTi MINT-4716361.
STRINGi 9606.ENSP00000356774.

PTM databases

PhosphoSitei Q8N157.

Polymorphism databases

DMDMi 73921659.

Proteomic databases

MaxQBi Q8N157.
PaxDbi Q8N157.
PRIDEi Q8N157.

Protocols and materials databases

DNASUi 54806.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265602 ; ENSP00000265602 ; ENSG00000135541 . [Q8N157-1 ]
ENST00000327035 ; ENSP00000322478 ; ENSG00000135541 . [Q8N157-2 ]
ENST00000367800 ; ENSP00000356774 ; ENSG00000135541 . [Q8N157-1 ]
ENST00000457866 ; ENSP00000388650 ; ENSG00000135541 . [Q8N157-1 ]
ENST00000531788 ; ENSP00000432167 ; ENSG00000135541 . [Q8N157-3 ]
GeneIDi 54806.
KEGGi hsa:54806.
UCSCi uc003qgh.3. human. [Q8N157-1 ]
uc003qgl.3. human. [Q8N157-2 ]

Organism-specific databases

CTDi 54806.
GeneCardsi GC06M135646.
GeneReviewsi AHI1.
HGNCi HGNC:21575. AHI1.
HPAi HPA046684.
MIMi 608629. phenotype.
608894. gene.
neXtProti NX_Q8N157.
Orphaneti 475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBi PA134874587.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
GeneTreei ENSGT00530000063479.
HOVERGENi HBG080824.
InParanoidi Q8N157.
KOi K16740.
OMAi LIHTKDS.
OrthoDBi EOG7ZPNJZ.
PhylomeDBi Q8N157.
TreeFami TF329226.

Enzyme and pathway databases

SignaLinki Q8N157.

Miscellaneous databases

ChiTaRSi AHI1. human.
GeneWikii AHI1.
GenomeRNAii 54806.
NextBioi 57511.
PROi Q8N157.
SOURCEi Search...

Gene expression databases

Bgeei Q8N157.
CleanExi HS_AHI1.
ExpressionAtlasi Q8N157. baseline and differential.
Genevestigatori Q8N157.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR001452. SH3_domain.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00018. SH3_1. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view ]
PRINTSi PR00452. SH3DOMAIN.
SMARTi SM00326. SH3. 1 hit.
SM00320. WD40. 6 hits.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
SSF50978. SSF50978. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "Full sequence of DKFZp686J1653."
    Westin E.H., Zhang Y.
    Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. "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).
  5. "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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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.
  8. "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.
  9. "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.
  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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions."
    Tuz K., Hsiao Y.C., Juarez O., Shi B., Harmon E.Y., Phelps I.G., Lennartz M.R., Glass I.A., Doherty D., Ferland R.J.
    J. Biol. Chem. 288:13676-13694(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION; INTERACTION WITH NPHP1 AND HAP1, SELF-ASSOCIATION, VARIANT JBTS3 LEU-351, CHARACTERIZATION OF VARIANTS JBTS3 LEU-351 AND ASP-443.
  13. "Molecular and structural characterization of the SH3 domain of AHI-1 in regulation of cellular resistance of BCR-ABL(+) chronic myeloid leukemia cells to tyrosine kinase inhibitors."
    Liu X., Chen M., Lobo P., An J., Grace Cheng S.W., Moradian A., Morin G.B., Van Petegem F., Jiang X.
    Proteomics 12:2094-2106(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.53 ANGSTROMS) OF 1048-1116, INTERACTION WITH DNM2.
  14. "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.
  15. Cited for: VARIANT JBTS3 GLN-723, VARIANTS ASN-49; HIS-548; LEU-761; TRP-830; SER-856; CYS-933; PHE-1123 AND SER-1140.
  16. Cited for: VARIANT JBTS3 GLY-1086.

Entry informationi

Entry nameiAHI1_HUMAN
AccessioniPrimary (citable) accession number: Q8N157
Secondary accession number(s): E1P584
, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0, Q9H0H2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3