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    TBL1Y transducin beta like 1 Y-linked [ Homo sapiens (human) ]

    Gene ID: 90665, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TBL1Yprovided by HGNC
    Official Full Name
    transducin beta like 1 Y-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:18502
    See related
    Ensembl:ENSG00000092377 MIM:400033; AllianceGenome:HGNC:18502
    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
    TBL1; DFNY2
    Summary
    The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See TBL1Y in Genome Data Viewer
    Location:
    Yp11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (6910697..7091683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (6563025..6744013)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (6778738..6959724)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene GOT2 pseudogene 5 Neighboring gene amelogenin Y-linked Neighboring gene ATP synthase peripheral stalk subunit F6 pseudogene 1 Neighboring gene family with sequence similarity 199, Y-linked, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrY:6931456-6932655 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrY:6975278-6976477 Neighboring gene G protein-coupled receptor 143 Y-linked pseudogene Neighboring gene protein kinase Y-linked (pseudogene) Neighboring gene RN7SK pseudogene 282

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta. Tagariello A, et al. Curr Mol Med, 2012 Feb. PMID 22280357
    2. Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation. Meyfour A, et al. J Proteome Res, 2017 Dec 1. PMID 28853286
    3. TBL1Y: a new gene involved in syndromic hearing loss. Di Stazio M, et al. Eur J Hum Genet, 2019 Mar. PMID 30341416, Free PMC Article
    4. Association of Y chromosome haplotypes with autism. Serajee FJ, et al. J Child Neurol, 2009 Oct. PMID 19605777
    5. Genetic variants of Y chromosome are associated with a protective lipid profile in black men. Russo P, et al. Arterioscler Thromb Vasc Biol, 2008 Aug. PMID 18511697

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBL1Y mutation causes syndromic hearing loss. Pathogenic variant affects protein expression and stability.
      Title: TBL1Y: a new gene involved in syndromic hearing loss.
    2. reducing TBL1Y cellular level using siRNA approach influenced cardiac differentiation by reducing its efficacy as well as increasing the probability of impaired contractions; proposed reclassification of TBL1Y as "found missing protein"
      Title: Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation.
    3. TBL1 is required to protect GPS2 from degradation, with methylation of GPS2 by arginine methyltransferase PRMT6 regulating the interaction with TBL1 and inhibiting proteasome-dependent degradation.
      Title: Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate in Protecting G Protein Pathway Suppressor 2 (GPS2) from Proteasomal Degradation.
    4. Our findings suggest that TBL1Y is involved in the genesis of non-syndromic coarctation of the aorta.
      Title: Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.
    5. Taken together,these findings suggest that TBL1 controls NF-kB activation by recruiting NF-kB to its target gene promoter.
      Title: Transducin β-like protein 1 recruits nuclear factor κB to the target gene promoter for transcriptional activation.
    6. investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin b-like 1, and eukaryotic translation initiation factor 1a genes, results suggest a Y chromosome effect in autism
      Title: Association of Y chromosome haplotypes with autism.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of Y chromosome haplotypes with autism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Deafness, Y-linked 2
    MedGen: C5193013 OMIM: 400047 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-box-like/WD repeat-containing protein TBL1Y
    Names
    transducin beta-like 1
    transducin beta-like protein 1Y
    transducin-beta-like protein 1, Y-linked

    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_033284.2 → NP_150600.1  F-box-like/WD repeat-containing protein TBL1Y

      See identical proteins and their annotated locations for NP_150600.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript.
      Source sequence(s)
      AF332220
      Consensus CDS
      CCDS14779.1
      UniProtKB/Swiss-Prot
      A1L4B3, Q9BQ87
      Related
      ENSP00000372499.1, ENST00000383032.6
      Conserved Domains (3) summary
      cd00200
      Location:174 → 480
      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 ...
      sd00039
      Location:182 → 229
      7WD40; WD40 repeat [structural motif]
      pfam08513
      Location:6 → 32
      LisH; LisH

    2. NM_134258.2 → NP_599020.1  F-box-like/WD repeat-containing protein TBL1Y

      See identical proteins and their annotated locations for NP_599020.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon (31 bases) in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AF332221
      Consensus CDS
      CCDS14779.1
      UniProtKB/Swiss-Prot
      A1L4B3, Q9BQ87
      Related
      ENSP00000347289.2, ENST00000355162.6
      Conserved Domains (3) summary
      cd00200
      Location:174 → 480
      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 ...
      sd00039
      Location:182 → 229
      7WD40; WD40 repeat [structural motif]
      pfam08513
      Location:6 → 32
      LisH; LisH

    3. NM_134259.2 → NP_599021.1  F-box-like/WD repeat-containing protein TBL1Y

      See identical proteins and their annotated locations for NP_599021.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon (95 bases) in the 5' UTR, as compared to variant 1.
      Source sequence(s)
      AF332222
      Consensus CDS
      CCDS14779.1
      UniProtKB/Swiss-Prot
      A1L4B3, Q9BQ87
      Related
      ENSP00000328879.4, ENST00000346432.3
      Conserved Domains (3) summary
      cd00200
      Location:174 → 480
      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 ...
      sd00039
      Location:182 → 229
      7WD40; WD40 repeat [structural motif]
      pfam08513
      Location:6 → 32
      LisH; LisH

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      6910697..7091683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      6563025..6744013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ87.1 GenPept UniProtKB/Swiss-Prot:Q9BQ87

    Gene LinkOut

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