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Entry version 157 (08 May 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Jouberin

Gene

AHI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processCilium biogenesis/degradation, Differentiation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q8N157

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Jouberin
Alternative name(s):
Abelson helper integration site 1 protein homolog
Short name:
AHI-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AHI1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:21575 AHI1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608894 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8N157

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
54806

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
AHI1

MalaCards human disease database

More...
MalaCardsi
AHI1
MIMi608629 phenotype

Open Targets

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OpenTargetsi
ENSG00000135541

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
475 Joubert syndrome
220493 Joubert syndrome with ocular defect
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134874587

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AHI1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73921659

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000508381 – 1196JouberinAdd BLAST1196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei45PhosphoserineCombined sources1
Modified residuei1002PhosphoserineCombined sources1
Modified residuei1123PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N157

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N157

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N157

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8N157

PeptideAtlas

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PeptideAtlasi
Q8N157

PRoteomics IDEntifications database

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PRIDEi
Q8N157

ProteomicsDB human proteome resource

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ProteomicsDBi
71560
71561 [Q8N157-2]
71562 [Q8N157-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N157

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8N157

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000135541 Expressed in 213 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N157 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N157 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA031698
HPA046684

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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).

Interacts with SPATA7 (By similarity).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120163, 36 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8N157

Protein interaction database and analysis system

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IntActi
Q8N157, 32 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000356774

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8N157

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1051 – 1111SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni141 – 434Interaction with HAP11 PublicationAdd BLAST294

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili13 – 45Sequence analysisAdd BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi234 – 239Poly-Lys6

Keywords - Domaini

Coiled coil, Repeat, SH3 domain, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156509

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N157

KEGG Orthology (KO)

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KOi
K16740

Identification of Orthologs from Complete Genome Data

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OMAi
KGKPVYC

Database of Orthologous Groups

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OrthoDBi
1564517at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N157

TreeFam database of animal gene trees

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TreeFami
TF329226

Family and domain databases

Conserved Domains Database

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CDDi
cd11812 SH3_AHI-1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

Pfam protein domain database

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Pfami
View protein in Pfam
PF00018 SH3_1, 1 hit
PF00400 WD40, 3 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00452 SH3DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00326 SH3, 1 hit
SM00320 WD40, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50044 SSF50044, 1 hit
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50002 SH3, 1 hit
PS50082 WD_REPEATS_2, 4 hits
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.
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Length:609
Mass (Da):70,047
Checksum:i42CE037DC5397F84
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y343H0Y343_HUMAN
Jouberin
AHI1
668Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PML3E9PML3_HUMAN
Jouberin
AHI1
288Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q9NQN3Q9NQN3_HUMAN
Jouberin
AHI1
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PI51E9PI51_HUMAN
Jouberin
AHI1
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YE01H0YE01_HUMAN
Jouberin
AHI1
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDL1H0YDL1_HUMAN
Jouberin
AHI1
29Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47483.1 [Q8N157-1]
CCDS47484.1 [Q8N157-2]

NCBI Reference Sequences

More...
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]
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54806

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54806

UCSC genome browser

More...
UCSCi
uc003qgh.4 human [Q8N157-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ESRX-ray1.53A/B1048-1116[»]
SMRiQ8N157
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120163, 36 interactors
CORUMiQ8N157
IntActiQ8N157, 32 interactors
STRINGi9606.ENSP00000356774

PTM databases

iPTMnetiQ8N157
PhosphoSitePlusiQ8N157

Polymorphism and mutation databases

BioMutaiAHI1
DMDMi73921659

Proteomic databases

EPDiQ8N157
jPOSTiQ8N157
MaxQBiQ8N157
PaxDbiQ8N157
PeptideAtlasiQ8N157
PRIDEiQ8N157
ProteomicsDBi71560
71561 [Q8N157-2]
71562 [Q8N157-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54806
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

Comparative Toxicogenomics Database

More...
CTDi
54806
DisGeNETi54806

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AHI1
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQ0Z Eukaryota
ENOG410XVKN LUCA
GeneTreeiENSGT00940000156509
InParanoidiQ8N157
KOiK16740
OMAiKGKPVYC
OrthoDBi1564517at2759
PhylomeDBiQ8N157
TreeFamiTF329226

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AHI1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
AHI1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54806

Protein Ontology

More...
PROi
PR:Q8N157

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135541 Expressed in 213 organ(s), highest expression level in adenohypophysis
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAHI1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N157
Secondary accession number(s): E1P584
, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8NDX0, Q9H0H2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: May 8, 2019
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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