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

Gene ID: 90665, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (6910697..7091683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (6563025..6744013)
105.20220307 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. 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
  2. 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
  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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein stabilization 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
  
involved_in response to estrogen IEA
Inferred from Electronic Annotation
more info
  
involved_in response to steroid hormone IEA
Inferred from Electronic Annotation
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 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
  

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_2023_10

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

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