Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 7275, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:12406
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TUB in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8019059..8106243)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (8098231..8185410)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8060180..8127790)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:8008582-8009121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:8009122-8009660 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:8016231-8017430 Neighboring gene eukaryotic translation initiation factor 3 subunit F Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3112 Neighboring gene cancer susceptibility 23 Neighboring gene uncharacterized LOC124902627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8057222-8057786 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:8093711-8094487 Neighboring gene TUB antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8104709-8105272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8111641-8112141 Neighboring gene RIC3 acetylcholine receptor chaperone Neighboring gene RIC3 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8214713-8215283 Neighboring gene VISTA enhancer hs1859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8244025-8244526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8248695-8249355 Neighboring gene uncharacterized LOC105376536 Neighboring gene LIM domain only 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Retinal dystrophy and obesity
    MedGen: C4015424 OMIM: 616188 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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_029912.2 RefSeqGene

      Range
      67154..92186
      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/TrEMBL
      E9PQR4
      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
      D3DQU4, O00293, P50607, Q6B007
      UniProtKB/TrEMBL
      E9PQR4
      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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      8019059..8106243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253109.4XP_005253166.1  tubby protein homolog isoform X1

      UniProtKB/TrEMBL
      E9PQR4
      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_047427512.1XP_047283468.1  tubby protein homolog isoform X3

      UniProtKB/TrEMBL
      E9PQR4
    3. XM_047427513.1XP_047283469.1  tubby protein homolog isoform X4

      UniProtKB/TrEMBL
      E9PQR4
    4. XM_047427515.1XP_047283471.1  tubby protein homolog isoform X6

    5. XM_047427517.1XP_047283473.1  tubby protein homolog isoform X8

      UniProtKB/TrEMBL
      Q9H4D2
    6. XM_047427514.1XP_047283470.1  tubby protein homolog isoform X5

      UniProtKB/TrEMBL
      E9PQR4
    7. XM_047427516.1XP_047283472.1  tubby protein homolog isoform X7

    8. XM_011520344.3XP_011518646.1  tubby protein homolog isoform X2

      See identical proteins and their annotated locations for XP_011518646.1

      UniProtKB/TrEMBL
      E9PQR4
      Conserved Domains (2) summary
      pfam01167
      Location:270511
      Tub; Tub family
      pfam16322
      Location:41249
      Tub_N; Tubby N-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      8098231..8185410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369807.1XP_054225782.1  tubby protein homolog isoform X1

      UniProtKB/TrEMBL
      E9PQR4
    2. XM_054369809.1XP_054225784.1  tubby protein homolog isoform X3

      UniProtKB/TrEMBL
      E9PQR4
    3. XM_054369810.1XP_054225785.1  tubby protein homolog isoform X4

      UniProtKB/TrEMBL
      E9PQR4
    4. XM_054369812.1XP_054225787.1  tubby protein homolog isoform X6

    5. XM_054369814.1XP_054225789.1  tubby protein homolog isoform X8

      UniProtKB/TrEMBL
      Q9H4D2
    6. XM_054369811.1XP_054225786.1  tubby protein homolog isoform X5

      UniProtKB/TrEMBL
      E9PQR4
    7. XM_054369813.1XP_054225788.1  tubby protein homolog isoform X7

    8. XM_054369808.1XP_054225783.1  tubby protein homolog isoform X2

      UniProtKB/TrEMBL
      E9PQR4