ZFIN ID: ZDB-GENE-060803-1
Gene Name: Abelson helper integration site 1
Gene Symbol: ahi1    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Name: ZAhi-1 (1)

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Involved in several processes, including motile cilium assembly; otic vesicle development; and photoreceptor cell outer segment organization. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Is expressed in several structures, including Kupffer's vesicle; digestive system; nervous system; optic vesicle; and pleuroperitoneal region. Orthologous to human AHI1 (Abelson helper integration site 1).
Genome Resources: Alliance (1),  Gene:562701 (1),  Ensembl(GRCz11):ENSDARG00000044056 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
lri46 Small Deletion Exon 5 Premature Stop TALEN
lri47 Indel Exon 5 Premature Stop TALEN
lri53 Small Deletion Exon 5 Premature Stop TALEN
sa15936 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23001 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32121 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36320 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36321 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-ahi1
    1
    MO1-ahi1 N/A 3
    MO2-ahi1 N/A 1
    MO3-ahi1 N/A 1
    TALEN1-ahi1 1
    DISEASE ASSOCIATED WITH ahi1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Joubert syndrome 3 Alliance Joubert syndrome 3 608629
    DISEASE ASSOCIATED WITH ahi1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Joubert syndrome ahi1lri46/lri46 standard conditions Lessieur et al., 2017
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process determination of left/right symmetry (more)
    GO Terms (all 5)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ahi1-202 (1)    Ensembl 3955
    ahi1-204 (1)    Ensembl 3686
    ncRNA ahi1-003 (1) 545
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ahi1 No data available
    MARKER RELATIONSHIPS
    ahi1 Contained in: [BAC] CH211-195G8 (1), CH211-236P5 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001077561 (1) 3221 nt
    Genomic GenBank:BX248131 (1) 162685 nt
    Select Tool
    Polypeptide UniProtKB:F8W3V6 (1) 1193 aa
    Sequence Information (all 19)
    ORTHOLOGY for ahi1 ( Chr: 17 )
    CITATIONS (19)