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

Gene ID: 54806, updated on 7-Aug-2014
Official Symbol
AHI1provided by HGNC
Official Full Name
Abelson helper integration site 1provided by HGNC
Primary source
HGNC:21575
Locus tag
RP1-32B1.2
See related
Ensembl:ENSG00000135541; HPRD:10597; 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]
See AHI1 in Epigenomics, MapViewer
Location:
6q23.3
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (135283532..135497765, 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 v-myb avian myeloblastosis viral oncogene homolog Neighboring gene microRNA 548a-2 Neighboring gene beta-transducin repeat containing pseudogene Neighboring gene long intergenic non-protein coding RNA 271 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 Neighboring gene high mobility group box 1 pseudogene 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Joubert syndrome 3 Compare labs

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14023, FLJ20069, DKFZp686J1653

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium morphogenesis 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 from RNA polymerase II promoter 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
 
protein localization to organelle IEA
Inferred from Electronic Annotation
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 targeting IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
TCTN-B9D 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
nonmotile primary cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
primary cilium IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
jouberin
Names
jouberin
contatins SH3 and WD40 domains
abelson helper integration site 1 protein homolog

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 

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

mRNA and Protein(s)

  1. NM_001134830.1NP_001128302.1  jouberin isoform a

    See proteins identical to NP_001128302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5', compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    Related
    ENSP00000356774, OTTHUMP00000234456, ENST00000367800, OTTHUMT00000391948
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    Blast Score: 296
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    Blast Score: 268
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 322
    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 proteins identical to NP_001128303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, AY133243, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    UniProtKB/TrEMBL
    Q8NER0
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    Blast Score: 296
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    Blast Score: 268
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 322
    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 proteins identical to 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, OTTHUMP00000017265, ENST00000327035, OTTHUMT00000042355
    Conserved Domains (2) summary
    COG2319
    Location:597919
    Blast Score: 264
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 317
    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_017651.4NP_060121.3  jouberin isoform a

    See proteins identical to NP_060121.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5', compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AI300295, AJ459824, BX643029
    Consensus CDS
    CCDS47483.1
    UniProtKB/Swiss-Prot
    Q8N157
    Related
    ENSP00000388650, OTTHUMP00000234654, ENST00000457866, OTTHUMT00000392253
    Conserved Domains (3) summary
    cd11812
    Location:10551106
    Blast Score: 296
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    Blast Score: 268
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 322
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    135283532..135497765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267039.2XP_005267096.1  

    Conserved Domains (3) summary
    cd11812
    Location:10551106
    Blast Score: 296
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    Blast Score: 266
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 322
    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_006715507.1XP_006715570.1  

    Conserved Domains (3) summary
    cd11812
    Location:10551106
    Blast Score: 296
    SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    COG2319
    Location:597919
    Blast Score: 269
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:611907
    Blast Score: 323
    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_427973.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    133169009..133382975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    135867357..136081325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)