Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Jouberin

Gene

AHI1

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

Functioni

Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. 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. Involved in neuronal differentiation.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Differentiation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21575. AHI1.

Subcellular locationi

GO - Cellular componenti

  • adherens junction Source: UniProtKB
  • cell-cell junction Source: UniProtKB
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • cytosol Source: Reactome
  • MKS complex Source: UniProtKB
  • non-motile cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 3 (JBTS3)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608629
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071194351R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 PublicationCorresponds to variant rs397514726dbSNPEnsembl.1
Natural variantiVAR_023391443V → 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. 3 PublicationsCorresponds to variant rs121434350dbSNPEnsembl.1
Natural variantiVAR_076820671T → I in JBTS3. 1 PublicationCorresponds to variant rs772989270dbSNPEnsembl.1
Natural variantiVAR_076821719D → G in JBTS3. 1 PublicationCorresponds to variant rs863225134dbSNPEnsembl.1
Natural variantiVAR_037894723R → Q in JBTS3. 1 PublicationCorresponds to variant rs121434351dbSNPEnsembl.1
Natural variantiVAR_076822896H → R in JBTS3. 1 PublicationCorresponds to variant rs863225135dbSNPEnsembl.1
Natural variantiVAR_0681711086E → G in JBTS3. 1 PublicationCorresponds to variant rs148000791dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi54806.
MalaCardsiAHI1.
MIMi608629. phenotype.
OpenTargetsiENSG00000135541.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBiPA134874587.

Polymorphism and mutation databases

BioMutaiAHI1.
DMDMi73921659.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508381 – 1196JouberinAdd BLAST1196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei45PhosphoserineCombined sources1
Modified residuei1002PhosphoserineCombined sources1
Modified residuei1123PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N157.
MaxQBiQ8N157.
PaxDbiQ8N157.
PeptideAtlasiQ8N157.
PRIDEiQ8N157.

PTM databases

iPTMnetiQ8N157.
PhosphoSitePlusiQ8N157.

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

BgeeiENSG00000135541.
CleanExiHS_AHI1.
ExpressionAtlasiQ8N157. baseline and differential.
GenevisibleiQ8N157. HS.

Organism-specific databases

HPAiHPA046684.

Interactioni

Subunit structurei

Self-associates (PubMed:23532844). 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. Interacts with RAB8A (By similarity). Interacts with CEND1 (By similarity).By similarity3 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. 29 interactors.
IntActiQ8N157. 32 interactors.
MINTiMINT-4716361.
STRINGi9606.ENSP00000265602.

Structurei

Secondary structure

11196
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi1055 – 1060Combined sources6
Beta strandi1077 – 1083Combined sources7
Beta strandi1085 – 1094Combined sources10
Beta strandi1097 – 1102Combined sources6
Helixi1103 – 1105Combined sources3
Beta strandi1106 – 1108Combined sources3
Helixi1109 – 1114Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ESRX-ray1.53A/B1048-1116[»]
ProteinModelPortaliQ8N157.
SMRiQ8N157.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati607 – 649WD 1Add BLAST43
Repeati652 – 691WD 2Add BLAST40
Repeati695 – 735WD 3Add BLAST41
Repeati742 – 781WD 4Add BLAST40
Repeati797 – 837WD 5Add BLAST41
Repeati841 – 880WD 6Add BLAST40
Repeati885 – 926WD 7Add BLAST42
Domaini1051 – 1111SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni141 – 434Interaction with HAP11 PublicationAdd BLAST294

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili13 – 45Sequence analysisAdd BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi234 – 239Poly-Lys6

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

eggNOGiENOG410IQ0Z. Eukaryota.
ENOG410XVKN. LUCA.
GeneTreeiENSGT00530000063479.
HOVERGENiHBG080824.
InParanoidiQ8N157.
KOiK16740.
OMAiKSQDFRL.
OrthoDBiEOG091G08I4.
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. AlignAdd to basket

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 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH65712 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence CAI20201 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI20387 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI22523 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18E → K in CAB66731 (PubMed:11230166).Curated1
Sequence conflicti553L → P in AAY99645 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03789249I → N.1 Publication1
Natural variantiVAR_071194351R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 PublicationCorresponds to variant rs397514726dbSNPEnsembl.1
Natural variantiVAR_023391443V → 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. 3 PublicationsCorresponds to variant rs121434350dbSNPEnsembl.1
Natural variantiVAR_037893548R → H.2 PublicationsCorresponds to variant rs35433555dbSNPEnsembl.1
Natural variantiVAR_076820671T → I in JBTS3. 1 PublicationCorresponds to variant rs772989270dbSNPEnsembl.1
Natural variantiVAR_076821719D → G in JBTS3. 1 PublicationCorresponds to variant rs863225134dbSNPEnsembl.1
Natural variantiVAR_037894723R → Q in JBTS3. 1 PublicationCorresponds to variant rs121434351dbSNPEnsembl.1
Natural variantiVAR_037895761S → L.1 PublicationCorresponds to variant rs794727174dbSNPEnsembl.1
Natural variantiVAR_037896830R → W.2 PublicationsCorresponds to variant rs13312995dbSNPEnsembl.1
Natural variantiVAR_037897856T → S.1 PublicationCorresponds to variant rs199736888dbSNPEnsembl.1
Natural variantiVAR_076822896H → R in JBTS3. 1 PublicationCorresponds to variant rs863225135dbSNPEnsembl.1
Natural variantiVAR_037898933Y → C.1 PublicationCorresponds to variant rs41288013dbSNPEnsembl.1
Natural variantiVAR_0378991018Q → P.Corresponds to variant rs6940875dbSNPEnsembl.1
Natural variantiVAR_0681711086E → G in JBTS3. 1 PublicationCorresponds to variant rs148000791dbSNPEnsembl.1
Natural variantiVAR_0379001123S → F.1 PublicationCorresponds to variant rs117447608dbSNPEnsembl.1
Natural variantiVAR_0379011140P → S.1 PublicationCorresponds to variant rs201148693dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015353594 – 609ACRIP…LNAGE → ENEDVFVLISPTMEEY in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_015354610 – 1196Missing in isoform 3. 1 PublicationAdd BLAST587
Alternative sequenceiVSP_0153551037 – 1053GIISI…QVDTA → DSHFAEFNTCILWWKKH in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0153561054 – 1196Missing in isoform 2. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011534212.1. XM_011535910.2. [Q8N157-1]
XP_011534213.1. XM_011535911.2. [Q8N157-1]
XP_016866466.1. XM_017010977.1. [Q8N157-1]
XP_016866473.1. XM_017010984.1. [Q8N157-2]
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.4. human. [Q8N157-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011534212.1. XM_011535910.2. [Q8N157-1]
XP_011534213.1. XM_011535911.2. [Q8N157-1]
XP_016866466.1. XM_017010977.1. [Q8N157-1]
XP_016866473.1. XM_017010984.1. [Q8N157-2]
UniGeneiHs.386684.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ESRX-ray1.53A/B1048-1116[»]
ProteinModelPortaliQ8N157.
SMRiQ8N157.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120163. 29 interactors.
IntActiQ8N157. 32 interactors.
MINTiMINT-4716361.
STRINGi9606.ENSP00000265602.

PTM databases

iPTMnetiQ8N157.
PhosphoSitePlusiQ8N157.

Polymorphism and mutation databases

BioMutaiAHI1.
DMDMi73921659.

Proteomic databases

EPDiQ8N157.
MaxQBiQ8N157.
PaxDbiQ8N157.
PeptideAtlasiQ8N157.
PRIDEiQ8N157.

Protocols and materials databases

DNASUi54806.
Structural Biology KnowledgebaseSearch...

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.4. human. [Q8N157-1]

Organism-specific databases

CTDi54806.
DisGeNETi54806.
GeneCardsiAHI1.
GeneReviewsiAHI1.
HGNCiHGNC:21575. AHI1.
HPAiHPA046684.
MalaCardsiAHI1.
MIMi608629. phenotype.
608894. gene.
neXtProtiNX_Q8N157.
OpenTargetsiENSG00000135541.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBiPA134874587.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ0Z. Eukaryota.
ENOG410XVKN. LUCA.
GeneTreeiENSGT00530000063479.
HOVERGENiHBG080824.
InParanoidiQ8N157.
KOiK16740.
OMAiKSQDFRL.
OrthoDBiEOG091G08I4.
PhylomeDBiQ8N157.
TreeFamiTF329226.

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.
SignaLinkiQ8N157.

Miscellaneous databases

ChiTaRSiAHI1. human.
GeneWikiiAHI1.
GenomeRNAii54806.
PROiQ8N157.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135541.
CleanExiHS_AHI1.
ExpressionAtlasiQ8N157. baseline and differential.
GenevisibleiQ8N157. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.