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

Gene ID: 7275, updated on 5-Aug-2018

Summary

Official Symbol
TUBprovided by HGNC
Official Full Name
tubby bipartite transcription factorprovided by HGNC
Primary source
HGNC:HGNC:12406
See related
Ensembl:ENSG00000166402 MIM:601197; Vega:OTTHUMG00000165690
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

Genomic context

See TUB in Genome Data Viewer
Location:
11p15.4
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (8019180..8106107)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8040742..8127654)

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 uncharacterized LOC101927936 Neighboring gene VISTA enhancer hs1859

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phagocytosis, recognition IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phagocytosis IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor localization to non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tubby protein homolog
Names
tubby homolog
tubby homologue

NCBI Reference Sequences (RefSeq)

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
    5001..72475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003320.4NP_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, OTTHUMP00000230767, ENST00000305253.8, OTTHUMT00000385822
    Conserved Domains (2) summary
    pfam01167
    Location:313554
    Tub; Tub family
    pfam16322
    Location:84292
    Tub_N; Tubby N-terminal
  2. NM_177972.2NP_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, BM992151, U54644
    Consensus CDS
    CCDS7787.1
    UniProtKB/Swiss-Prot
    P50607
    Related
    ENSP00000299506.2, OTTHUMP00000230768, ENST00000299506.2, OTTHUMT00000385823
    Conserved Domains (2) summary
    pfam01167
    Location:258499
    Tub; Tub family
    pfam16322
    Location:29237
    Tub_N; Tubby N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    8019180..8106107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000434400.1, OTTHUMP00000230766, ENST00000534099.5, OTTHUMT00000385821
    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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