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    TUB TUB bipartite transcription factor [ Homo sapiens (human) ]

    Gene ID: 7275, updated on 5-Jan-2022

    Summary

    Official Symbol
    TUBprovided by HGNC
    Official Full Name
    TUB bipartite transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:12406
    See related
    Ensembl:ENSG00000166402 MIM:601197
    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
    rd5; RDOB
    Summary
    This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 18.8), endometrium (RPKM 10.0) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TUB in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (8019180..8106243)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8060180..8127790)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit F Neighboring gene cancer susceptibility 23 Neighboring gene TUB antisense RNA 1 Neighboring gene RIC3 acetylcholine receptor chaperone Neighboring gene RIC3 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 8819

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Retinal dystrophy and obesity
    MedGen: C4015424 OMIM: 616188 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of tubby homolog, mouse (TUB) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acts_upstream_of_or_within intraciliary transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phagocytosis, recognition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor localization to non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tubby protein homolog
    Names
    tubby bipartite transcription factor
    tubby homolog
    tubby homologue

    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.

    Genomic

    1. NG_029912.1 RefSeqGene

      Range
      47579..72611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003320.5NP_003311.2  tubby protein homolog isoform a

      See identical proteins and their annotated locations for NP_003311.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AC116456, BC075032, BM992151, U82467
      Consensus CDS
      CCDS7786.1
      UniProtKB/Swiss-Prot
      P50607
      Related
      ENSP00000305426.4, ENST00000305253.8
      Conserved Domains (2) summary
      pfam01167
      Location:313554
      Tub; Tub family
      pfam16322
      Location:84292
      Tub_N; Tubby N-terminal
    2. NM_177972.3NP_813977.1  tubby protein homolog isoform b

      See identical proteins and their annotated locations for NP_813977.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. This results in a shorter isoform (b) with a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC116456, BM679358, BM992151, U54644
      Consensus CDS
      CCDS7787.1
      UniProtKB/Swiss-Prot
      P50607
      Related
      ENSP00000299506.3, ENST00000299506.3
      Conserved Domains (2) summary
      pfam01167
      Location:258499
      Tub; Tub family
      pfam16322
      Location:29237
      Tub_N; Tubby N-terminal

    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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      8019180..8106243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253109.3XP_005253166.1  tubby protein homolog isoform X1

      Related
      ENSP00000434400.1, ENST00000534099.5
      Conserved Domains (2) summary
      pfam01167
      Location:300541
      Tub; Tub family
      pfam16322
      Location:71279
      Tub_N; Tubby N-terminal
    2. XM_011520344.2XP_011518646.1  tubby protein homolog isoform X2

      See identical proteins and their annotated locations for XP_011518646.1

      Conserved Domains (2) summary
      pfam01167
      Location:270511
      Tub; Tub family
      pfam16322
      Location:41249
      Tub_N; Tubby N-terminal
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