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

    Gene ID: 54806, updated on 11-Apr-2024

    Summary

    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; AllianceGenome:HGNC:21575
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AHI1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (135283532..135497740, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (136471820..136685994, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135604670..135818878, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25104 Neighboring gene MYB proto-oncogene, transcription factor Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:135570900-135572099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573042-135573542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573543-135574043 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:135577907-135579106 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:135585007-135585209 Neighboring gene microRNA 548a-2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:135591948-135592842 Neighboring gene VISTA enhancer hs1351 Neighboring gene uncharacterized LOC124901407 Neighboring gene CRISPRi-validated MYB cis-regulatory element XLOC_042889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25105 Neighboring gene Sharpr-MPRA regulatory region 12318 Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1 Neighboring gene MPRA-validated peak6137 silencer Neighboring gene MPRA-validated peak6138 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25106 Neighboring gene MPRA-validated peak6140 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17570 Neighboring gene AHI1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17571 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:135921214-135922413 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 Neighboring gene long intergenic non-protein coding RNA 2524

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Joubert syndrome 3
    MedGen: C1837713 OMIM: 608629 GeneReviews: Joubert Syndrome
    not available

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14023, FLJ20069, DKFZp686J1653

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cloaca development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of a polarized epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in otic vesicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in photoreceptor cell outer segment organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of polarized epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pronephric nephron tubule morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in specification of axis polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in non-motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    jouberin
    Names
    abelson helper integration site 1 protein homolog
    contatins SH3 and WD40 domains

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008643.2 RefSeqGene

      Range
      5026..219234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134830.2NP_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, AL023693
      Consensus CDS
      CCDS47483.1
      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      Related
      ENSP00000356774.4, ENST00000367800.8
      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_001134831.2NP_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, AL023693, AY133243
      Consensus CDS
      CCDS47483.1
      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      Related
      ENSP00000265602.6, ENST00000265602.11
      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_001134832.2NP_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
      Consensus CDS
      CCDS47484.1
      UniProtKB/TrEMBL
      A0A7P0TA48
      Related
      ENSP00000322478.6, ENST00000327035.10
      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_001350503.2NP_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
      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      Related
      ENSP00000504965.1, ENST00000681841.1
      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_001350504.2NP_001337433.1  jouberin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes isoform c.
      Source sequence(s)
      AL023693, AL049552, AL133544
      Consensus CDS
      CCDS94006.1
      UniProtKB/TrEMBL
      A0A7P0T959, A0A7P0T9I7
      Related
      ENSP00000505502.1, ENST00000679925.1
      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 ...
    6. NM_017651.5NP_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, AL023693
      Consensus CDS
      CCDS47483.1
      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      Related
      ENSP00000388650.2, ENST00000457866.6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      135283532..135497740 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418943.1XP_047274899.1  jouberin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T959
      Related
      ENSP00000504890.1, ENST00000679742.1
    2. XM_011535911.4XP_011534213.1  jouberin isoform X1

      See identical proteins and their annotated locations for XP_011534213.1

      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      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_047418942.1XP_047274898.1  jouberin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T959
    4. XM_011535910.4XP_011534212.1  jouberin isoform X1

      See identical proteins and their annotated locations for XP_011534212.1

      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
      UniProtKB/TrEMBL
      A0A7P0T8H6
      Related
      ENSP00000506005.1, ENST00000681522.1
      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. XM_047418940.1XP_047274896.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
      Related
      ENSP00000505663.1, ENST00000679943.1
    6. XM_047418939.1XP_047274895.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
    7. XM_047418941.1XP_047274897.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
    8. XM_017010979.3XP_016866468.1  jouberin isoform X2

      UniProtKB/TrEMBL
      A0A7P0T7Z8, A0A7P0T9I7
      Related
      ENSP00000504895.1, ENST00000681670.1
      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 ...
    9. XM_024446480.2XP_024302248.1  jouberin isoform X5

      UniProtKB/TrEMBL
      A0A7P0TA48
      Related
      ENSP00000506009.1, ENST00000680184.1
      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 ...
    10. XM_047418944.1XP_047274900.1  jouberin isoform X6

      UniProtKB/TrEMBL
      A0A7P0T9Q2
      Related
      ENSP00000506261.1, ENST00000679622.1
    11. XM_047418945.1XP_047274901.1  jouberin isoform X7

    12. XM_017010984.3XP_016866473.1  jouberin isoform X7

      UniProtKB/TrEMBL
      A0A7P0TA48
      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 ...
    13. XM_047418946.1XP_047274902.1  jouberin isoform X7

      Related
      ENST00000681945.1

    RNA

    1. XR_001743480.3 RNA Sequence

    2. XR_007059277.1 RNA Sequence

      Related
      ENST00000531788.5
    3. XR_007059276.1 RNA Sequence

      Related
      ENST00000681488.1
    4. XR_007059278.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      136471820..136685994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355740.1XP_054211715.1  jouberin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T959
    2. XM_054355734.1XP_054211709.1  jouberin isoform X1

      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
    3. XM_054355739.1XP_054211714.1  jouberin isoform X4

      UniProtKB/TrEMBL
      A0A7P0T959
    4. XM_054355733.1XP_054211708.1  jouberin isoform X1

      UniProtKB/Swiss-Prot
      E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2
    5. XM_054355737.1XP_054211712.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
    6. XM_054355736.1XP_054211711.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
    7. XM_054355738.1XP_054211713.1  jouberin isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9M6
    8. XM_054355735.1XP_054211710.1  jouberin isoform X2

      UniProtKB/TrEMBL
      A0A7P0T7Z8
    9. XM_054355741.1XP_054211716.1  jouberin isoform X5

    10. XM_054355742.1XP_054211717.1  jouberin isoform X6

      UniProtKB/TrEMBL
      A0A7P0T9Q2
    11. XM_054355743.1XP_054211718.1  jouberin isoform X8

    12. XM_054355745.1XP_054211720.1  jouberin isoform X7

    13. XM_054355744.1XP_054211719.1  jouberin isoform X7

    14. XM_054355746.1XP_054211721.1  jouberin isoform X7

    RNA

    1. XR_008487350.1 RNA Sequence

    2. XR_008487352.1 RNA Sequence

    3. XR_008487351.1 RNA Sequence

    4. XR_008487353.1 RNA Sequence