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

Gene ID: 90665, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See TBL1Y in Genome Data Viewer
Location:
Yp11.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (6908594..7107154)
105.20201022 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 G protein-coupled receptor 143 pseudogene Neighboring gene protein kinase Y-linked (pseudogene) Neighboring gene RN7SK pseudogene 282 Neighboring gene RNA, U6 small nuclear 941, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Process Evidence Code Pubs
involved_in histone deacetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated 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
PubMed 
Component Evidence Code Pubs
part_of histone deacetylase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_033284.2NP_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
    Q9BQ87
    UniProtKB/TrEMBL
    A0A024R189
    Related
    ENSP00000372499.1, ENST00000383032.6
    Conserved Domains (3) summary
    cd00200
    Location:174480
    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:182229
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
  2. NM_134258.2NP_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
    Q9BQ87
    UniProtKB/TrEMBL
    A0A024R189
    Related
    ENSP00000347289.2, ENST00000355162.6
    Conserved Domains (3) summary
    cd00200
    Location:174480
    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:182229
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
  3. NM_134259.2NP_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
    Q9BQ87
    UniProtKB/TrEMBL
    A0A024R189
    Related
    ENSP00000328879.4, ENST00000346432.3
    Conserved Domains (3) summary
    cd00200
    Location:174480
    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:182229
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    6908594..7107154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452497.1XP_024308265.1  F-box-like/WD repeat-containing protein TBL1Y isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:174480
    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:182229
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
  2. XM_017030087.1XP_016885576.1  F-box-like/WD repeat-containing protein TBL1Y isoform X2

  3. XM_017030086.1XP_016885575.1  F-box-like/WD repeat-containing protein TBL1Y isoform X1

    Conserved Domains (3) summary
    cd00200
    Location:174480
    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:182229
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:632
    LisH; LisH
  4. XM_005262572.3XP_005262629.1  F-box-like/WD repeat-containing protein TBL1Y isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:159536
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:188494
    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:196243
    7WD40; WD40 repeat [structural motif]
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