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Protein

Jouberin

Gene

AHI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).By similarity1 Publication

GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCilium 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

EuPathDBiHostDB:ENSG00000135541.20
HGNCiHGNC:21575 AHI1
MIMi608894 gene
neXtProtiNX_Q8N157

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs397514726EnsemblClinVar.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; loss of positive modulation of classical Wnt signaling; decreased interaction with CTNNB1. 4 PublicationsCorresponds to variant dbSNP:rs121434350EnsemblClinVar.1
Natural variantiVAR_080417589 – 1196Missing in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs267606641Add BLAST608
Natural variantiVAR_076820671T → I in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs772989270EnsemblClinVar.1
Natural variantiVAR_076821719D → G in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs863225134EnsemblClinVar.1
Natural variantiVAR_037894723R → Q in JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1. 2 PublicationsCorresponds to variant dbSNP:rs121434351EnsemblClinVar.1
Natural variantiVAR_076822896H → R in JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1. 2 PublicationsCorresponds to variant dbSNP:rs863225135EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi54806
GeneReviewsiAHI1
MalaCardsiAHI1
MIMi608629 phenotype
OpenTargetsiENSG00000135541
Orphaneti475 Joubert syndrome
220493 Joubert syndrome with ocular defect
791 Retinitis pigmentosa
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
ProteomicsDBi71560
71561 [Q8N157-2]
71562 [Q8N157-3]

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 Expressed in 213 organ(s), highest expression level in adenohypophysis
CleanExiHS_AHI1
ExpressionAtlasiQ8N157 baseline and differential
GenevisibleiQ8N157 HS

Organism-specific databases

HPAiHPA031698
HPA046684

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). Interacts with CTNNB1/beta-catenin (PubMed:21623382).By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120163, 36 interactors
CORUMiQ8N157
IntActiQ8N157, 32 interactors
STRINGi9606.ENSP00000265602

Structurei

Secondary structure

11196
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Coiled coil, Repeat, SH3 domain, WD repeat

Phylogenomic databases

eggNOGiENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA
GeneTreeiENSGT00530000063479
HOVERGENiHBG080824
InParanoidiQ8N157
KOiK16740
OMAiRGCFCLA
OrthoDBiEOG091G08I4
PhylomeDBiQ8N157
TreeFamiTF329226

Family and domain databases

CDDicd11812 SH3_AHI-1, 1 hit
Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035832 AHI1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PF00400 WD40, 3 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00320 WD40, 6 hits
SUPFAMiSSF50044 SSF50044, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
PS50082 WD_REPEATS_2, 4 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEF1H0YEF1_HUMAN
Jouberin
AHI1
542Annotation score:
H0Y343H0Y343_HUMAN
Jouberin
AHI1
668Annotation score:
Q9NQN3Q9NQN3_HUMAN
Jouberin
AHI1
54Annotation score:
E9PML3E9PML3_HUMAN
Jouberin
AHI1
288Annotation score:
E9PI51E9PI51_HUMAN
Jouberin
AHI1
48Annotation score:
H0YE01H0YE01_HUMAN
Jouberin
AHI1
129Annotation score:
H0YDL1H0YDL1_HUMAN
Jouberin
AHI1
29Annotation score:

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

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 → N1 Publication1
Natural variantiVAR_071194351R → L in JBTS3; loss of localization at cilium basal body and cell-cell junctions. 1 PublicationCorresponds to variant dbSNP:rs397514726EnsemblClinVar.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; loss of positive modulation of classical Wnt signaling; decreased interaction with CTNNB1. 4 PublicationsCorresponds to variant dbSNP:rs121434350EnsemblClinVar.1
Natural variantiVAR_037893548R → H2 PublicationsCorresponds to variant dbSNP:rs35433555EnsemblClinVar.1
Natural variantiVAR_080417589 – 1196Missing in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs267606641Add BLAST608
Natural variantiVAR_076820671T → I in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs772989270EnsemblClinVar.1
Natural variantiVAR_076821719D → G in JBTS3. 1 PublicationCorresponds to variant dbSNP:rs863225134EnsemblClinVar.1
Natural variantiVAR_037894723R → Q in JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1. 2 PublicationsCorresponds to variant dbSNP:rs121434351EnsemblClinVar.1
Natural variantiVAR_037895761S → L1 PublicationCorresponds to variant dbSNP:rs794727174EnsemblClinVar.1
Natural variantiVAR_037896830R → W2 PublicationsCorresponds to variant dbSNP:rs13312995EnsemblClinVar.1
Natural variantiVAR_037897856T → S1 PublicationCorresponds to variant dbSNP:rs199736888Ensembl.1
Natural variantiVAR_076822896H → R in JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1. 2 PublicationsCorresponds to variant dbSNP:rs863225135EnsemblClinVar.1
Natural variantiVAR_037898933Y → C1 PublicationCorresponds to variant dbSNP:rs41288013EnsemblClinVar.1
Natural variantiVAR_0378991018Q → P. Corresponds to variant dbSNP:rs6940875EnsemblClinVar.1
Natural variantiVAR_0681711086E → G1 PublicationCorresponds to variant dbSNP:rs148000791EnsemblClinVar.1
Natural variantiVAR_0379001123S → F1 PublicationCorresponds to variant dbSNP:rs117447608EnsemblClinVar.1
Natural variantiVAR_0379011140P → S1 PublicationCorresponds to variant dbSNP:rs201148693EnsemblClinVar.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 Genomic DNA No translation available.
AL049552 Genomic DNA No translation available.
AL133544 Genomic DNA No translation available.
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
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

Similar proteinsi

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 Genomic DNA No translation available.
AL049552 Genomic DNA No translation available.
AL133544 Genomic DNA No translation available.
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
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, 36 interactors
CORUMiQ8N157
IntActiQ8N157, 32 interactors
STRINGi9606.ENSP00000265602

PTM databases

iPTMnetiQ8N157
PhosphoSitePlusiQ8N157

Polymorphism and mutation databases

BioMutaiAHI1
DMDMi73921659

Proteomic databases

EPDiQ8N157
MaxQBiQ8N157
PaxDbiQ8N157
PeptideAtlasiQ8N157
PRIDEiQ8N157
ProteomicsDBi71560
71561 [Q8N157-2]
71562 [Q8N157-3]

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
EuPathDBiHostDB:ENSG00000135541.20
GeneCardsiAHI1
GeneReviewsiAHI1
HGNCiHGNC:21575 AHI1
HPAiHPA031698
HPA046684
MalaCardsiAHI1
MIMi608629 phenotype
608894 gene
neXtProtiNX_Q8N157
OpenTargetsiENSG00000135541
Orphaneti475 Joubert syndrome
220493 Joubert syndrome with ocular defect
791 Retinitis pigmentosa
PharmGKBiPA134874587
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA
GeneTreeiENSGT00530000063479
HOVERGENiHBG080824
InParanoidiQ8N157
KOiK16740
OMAiRGCFCLA
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
PROiPR:Q8N157
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135541 Expressed in 213 organ(s), highest expression level in adenohypophysis
CleanExiHS_AHI1
ExpressionAtlasiQ8N157 baseline and differential
GenevisibleiQ8N157 HS

Family and domain databases

CDDicd11812 SH3_AHI-1, 1 hit
Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035832 AHI1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PF00400 WD40, 3 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00320 WD40, 6 hits
SUPFAMiSSF50044 SSF50044, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
PS50082 WD_REPEATS_2, 4 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAHI1_HUMAN
AccessioniPrimary (citable) accession number: Q8N157
Secondary accession number(s): E1P584
, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0, Q9H0H2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 152 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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