U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    TBL3 transducin beta like 3 [ Homo sapiens (human) ]

    Gene ID: 10607, updated on 10-Dec-2024

    Summary

    Official Symbol
    TBL3provided by HGNC
    Official Full Name
    transducin beta like 3provided by HGNC
    Primary source
    HGNC:HGNC:11587
    See related
    Ensembl:ENSG00000183751 MIM:605915; AllianceGenome:HGNC:11587
    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
    SAZD; UTP13
    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 has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 14.6), skin (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBL3 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1972053..1982929)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1992012..2002867)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2022054..2032930)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 78 Neighboring gene small nucleolar RNA host gene 9 Neighboring gene ring finger protein 151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2028013-2028592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2028593-2029172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2029173-2029752 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:2029753-2030330 and GRCh37_chr16:2030331-2030910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10250 Neighboring gene NADPH oxidase organizer 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2032733-2032925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7014 Neighboring gene growth factor, augmenter of liver regeneration Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2038929-2039508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2041827-2042404 Neighboring gene synaptogyrin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2042985-2043562

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables U3 snoRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transducin beta-like protein 3
    Names
    WD repeat-containing protein SAZD
    WD-repeat protein SAZD

    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.

    mRNA and Protein(s)

    1. NM_006453.3NP_006444.2  transducin beta-like protein 3

      See identical proteins and their annotated locations for NP_006444.2

      Status: REVIEWED

      Source sequence(s)
      AC005363, AC005606, BC010231
      Consensus CDS
      CCDS10453.1
      UniProtKB/Swiss-Prot
      Q12788, Q59GD6, Q8IVB7, Q96A78
      UniProtKB/TrEMBL
      J3KNP2
      Related
      ENSP00000454836.1, ENST00000568546.6
      Conserved Domains (5) summary
      smart00320
      Location:108137
      WD40; WD40 repeats
      COG2319
      Location:106602
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:328633
      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 ...
      pfam08625
      Location:654788
      Utp13; Utp13 specific WD40 associated domain
      sd00039
      Location:379419
      7WD40; WD40 repeat [structural motif]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1972053..1982929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791799.1 Reference GRCh38.p14 PATCHES

      Range
      38201..49077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1992012..2002867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)