Format

Send to:

Choose Destination

AHI1 Abelson helper integration site 1 [ Homo sapiens (human) ]

Gene ID: 54806, updated on 14-Jun-2018
Official Symbol
AHI1provided by HGNC
Official Full Name
Abelson helper integration site 1provided by HGNC
Primary source
HGNC:HGNC:21575
See related
Ensembl:ENSG00000135541 MIM:608894; Vega:OTTHUMG00000015631
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ORF1; AHI-1; JBTS3; dJ71N10.1
Summary
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Expression
Broad expression in testis (RPKM 9.3), adrenal (RPKM 5.6) and 25 other tissues See more
Orthologs
See AHI1 in Genome Data Viewer
Location:
6q23.3
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (135283972..135497771, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135604670..135818903, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 548a-2 Neighboring gene VISTA enhancer hs1351 Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 271 Neighboring gene uncharacterized LOC105378013 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 73

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Joubert syndrome 3
MedGen: C1837713 OMIM: 608629 GeneReviews: Joubert Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14023, FLJ20069, DKFZp686J1653

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Kupffer's vesicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cloaca development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
hindbrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
left/right axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of a polarized epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
otic vesicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor cell outer segment organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of polarized epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
pronephric duct morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pronephric nephron tubule morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
retina layer formation ISS
Inferred from Sequence or Structural Similarity
more info
 
specification of axis polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
centriole ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
non-motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
jouberin
Names
abelson helper integration site 1 protein homolog
contatins SH3 and WD40 domains

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.

Genomic

  1. NG_008643.1 RefSeqGene

    Range
    5001..218794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134830.1NP_001128302.1  jouberin isoform a

    See identical proteins and their annotated locations for NP_001128302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5', compared to variant 1. Variants 1-3 and 5 all encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    Related
    ENSP00000356774.4, OTTHUMP00000234456, ENST00000367800.8, OTTHUMT00000391948
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...
  2. NM_001134831.1NP_001128303.1  jouberin isoform a

    See identical proteins and their annotated locations for NP_001128303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 and 5 all encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, AY133243, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    UniProtKB/TrEMBL
    Q8NER0
    Related
    ENSP00000265602.6, OTTHUMP00000234656, ENST00000265602.10, OTTHUMT00000392256
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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_001134832.1NP_001128304.1  jouberin isoform b

    See identical proteins and their annotated locations for NP_001128304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AJ459824, AJ459825, BX643029
    Consensus CDS
    CCDS47484.1
    UniProtKB/Swiss-Prot
    Q8N157
    Related
    ENSP00000322478.6, OTTHUMP00000017265, ENST00000327035.10, OTTHUMT00000042355
    Conserved Domains (3) summary
    COG2319
    Location:597919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:611907
    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 ...
  4. NM_001350503.1NP_001337432.1  jouberin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-3, encodes isoform a.
    Source sequence(s)
    AL023693, AL049552, AL133544
    Consensus CDS
    CCDS47483.1
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...
  5. NM_001350504.1NP_001337433.1  jouberin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform c.
    Source sequence(s)
    AL023693, AL049552, AL133544
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...
  6. NM_017651.4NP_060121.3  jouberin isoform a

    See identical proteins and their annotated locations for NP_060121.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5', compared to variant 1. Variants 1-3 and 5 all encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    Related
    ENSP00000388650.2, OTTHUMP00000234654, ENST00000457866.6, OTTHUMT00000392253
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    135283972..135497771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010981.2XP_016866470.1  jouberin isoform X4

    Conserved Domains (3) summary
    cd11812
    Location:10371088
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:594634
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:593889
    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 ...
  2. XM_011535910.3XP_011534212.1  jouberin isoform X1

    See identical proteins and their annotated locations for XP_011534212.1

    UniProtKB/Swiss-Prot
    Q8N157
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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. XM_024446479.1XP_024302247.1  jouberin isoform X4

    Conserved Domains (3) summary
    cd11812
    Location:10371088
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:594634
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:593889
    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 ...
  4. XM_011535911.3XP_011534213.1  jouberin isoform X1

    See identical proteins and their annotated locations for XP_011534213.1

    UniProtKB/Swiss-Prot
    Q8N157
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...
  5. XM_017010980.2XP_016866469.1  jouberin isoform X3

    Conserved Domains (4) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:611907
    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 ...
  6. XM_017010978.2XP_016866467.1  jouberin isoform X2

    Conserved Domains (4) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:611907
    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 ...
  7. XM_017010979.2XP_016866468.1  jouberin isoform X2

    Conserved Domains (4) summary
    cd11812
    Location:10551106
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:611907
    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 ...
  8. XM_024446480.1XP_024302248.1  jouberin isoform X5

    Conserved Domains (2) summary
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:611907
    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 ...
  9. XM_017010984.2XP_016866473.1  jouberin isoform X6

    UniProtKB/Swiss-Prot
    Q8N157
    Conserved Domains (3) summary
    COG2319
    Location:597919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:612652
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:611907
    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. XR_002956287.1 RNA Sequence

  2. XR_001743489.2 RNA Sequence

  3. XR_001743485.2 RNA Sequence

  4. XR_001743486.2 RNA Sequence

  5. XR_001743484.2 RNA Sequence

  6. XR_001743482.2 RNA Sequence

  7. XR_001743481.2 RNA Sequence

  8. XR_001743480.2 RNA Sequence

  9. XR_001743483.2 RNA Sequence

  10. XR_001743479.2 RNA Sequence

  11. XR_001743490.2 RNA Sequence

  12. XR_001743487.2 RNA Sequence

  13. XR_001743488.1 RNA Sequence

  14. XR_002956286.1 RNA Sequence

Support Center