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

Gene ID: 10607, updated on 27-Nov-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
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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)

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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_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)