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Ahi1 Abelson helper integration site 1 [ Mus musculus (house mouse) ]

Gene ID: 52906, updated on 6-Jun-2024

Summary

Official Symbol
Ahi1provided by MGI
Official Full Name
Abelson helper integration site 1provided by MGI
Primary source
MGI:MGI:87971
See related
Ensembl:ENSMUSG00000019986 AllianceGenome:MGI:87971
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ahi-1; D10Bwg0629e; 1700015F03Rik
Summary
Predicted to enable identical protein binding activity. Involved in several processes, including animal organ development; positive regulation of cellular component organization; and positive regulation of polarized epithelial cell differentiation. Acts upstream of or within several processes, including non-motile cilium assembly; photoreceptor cell outer segment organization; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is expressed in several structures, including brain; ganglia; olfactory epithelium; retina; and trigeminal nerve. Used to study Joubert syndrome 3 and nephronophthisis. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Orthologous to human AHI1 (Abelson helper integration site 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in CNS E18 (RPKM 44.9), frontal lobe adult (RPKM 34.7) and 6 other tissues See more
Orthologs
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Genomic context

See Ahi1 in Genome Data Viewer
Location:
10 A3; 10 9.75 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (20827274..20956328)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (20952232..21080429)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr10:20554956-20555257 Neighboring gene predicted gene, 33510 Neighboring gene predicted gene, 53617 Neighboring gene ribosomal protein S2, pseudogene 3 Neighboring gene STARR-seq mESC enhancer starr_25971 Neighboring gene STARR-positive B cell enhancer ABC_E2930 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:20715221-20715330 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:20768493-20768817 Neighboring gene STARR-seq mESC enhancer starr_25973 Neighboring gene predicted gene, 20149 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:20812313-20812607 Neighboring gene STARR-seq mESC enhancer starr_25978 Neighboring gene STARR-seq mESC enhancer starr_25982 Neighboring gene myeloblastosis oncogene Neighboring gene STARR-seq mESC enhancer starr_25983 Neighboring gene predicted gene, 40608

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (6)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor protein tyrosine kinase signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in eye photoreceptor cell development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in morphogenesis of a polarized epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of glucose import ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in photoreceptor cell outer segment organization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of polarized epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retinal cone cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retinal rod cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within vesicle targeting IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in adherens junction ISO
Inferred from Sequence Orthology
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in cilium IC
Inferred by Curator
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor distal connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
jouberin
Names
abelson helper integration site 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001177776.2NP_001171247.1  jouberin isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks multiple 5' exons but has an alternate 5' UTR exon, as compared to variant 1. The resulting isoform (2) is much shorter at the N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC117639, AC153556
    Consensus CDS
    CCDS48512.1
    UniProtKB/TrEMBL
    E9Q552
    Related
    ENSMUSP00000127043.3, ENSMUST00000163505.3
    Conserved Domains (1) summary
    cd11812
    Location:252
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
  2. NM_001358561.2NP_001345490.1  jouberin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC117639, AC153556
    UniProtKB/Swiss-Prot
    Q7TNV2, Q8K3E5, Q9CVY1
    Conserved Domains (3) summary
    cd11812
    Location:898948
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:462502
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:461760
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001428948.1NP_001415877.1  jouberin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC117639
    UniProtKB/TrEMBL
    A0A1L1SQE2
  4. NM_026203.4NP_080479.2  jouberin isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC117639, AC153556
    Consensus CDS
    CCDS35860.1
    UniProtKB/Swiss-Prot
    Q7TNV2, Q8K3E5, Q9CVY1
    UniProtKB/TrEMBL
    E9QP54
    Related
    ENSMUSP00000101164.5, ENSMUST00000105525.12
    Conserved Domains (4) summary
    cd11812
    Location:907957
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:447769
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:462502
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:461760
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_190543.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC117639, AC153556

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    20827274..20956328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_380069.5 RNA Sequence

  2. XR_001779555.3 RNA Sequence

  3. XR_001779556.3 RNA Sequence

  4. XR_003948741.2 RNA Sequence