TUB
Tubby protein homolog
Also known as: rd5, TUB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P50607
- Gene
- TUB
- Ensembl
- ENSG00000166402
- Chromosome
- 11
- Canonical length
- 506 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles,Plasma membrane,Centriolar satellite,Basal body
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
506 residues, UniProt reviewed canonical sequence.
>P50607|TUB
1 MTSKPHSDWI PYSVLDDEGR NLRQQKLDRQ RALLEQKQKK KRQEPLMVQA NADGRPRSRR
61 ARQSEEQAPL VESYLSSSGS TSYQVQEADS LASVQLGATR PTAPASAKRT KAAATAGGQG
121 GAARKEKKGK HKGTSGPAAL AEDKSEAQGP VQILTVGQSD HAQDAGETAA GGGERPSGQD
181 LRATMQRKGI SSSMSFDEDE EDEEENSSSS SQLNSNTRPS SATSRKSVRE AASAPSPTAP
241 EQPVDVEVQD LEEFALRPAP QGITIKCRIT RDKKGMDRGM YPTYFLHLDR EDGKKVFLLA
301 GRKRKKSKTS NYLISVDPTD LSRGGDSYIG KLRSNLMGTK FTVYDNGVNP QKASSSTLES
361 GTLRQELAAV CYETNVLGFK GPRKMSVIVP GMNMVHERVS IRPRNEHETL LARWQNKNTE
421 SIIELQNKTP VWNDDTQSYV LNFHGRVTQA SVKNFQIIHG NDPDYIVMQF GRVAEDVFTM
481 DYNYPLCALQ AFAIALSSFD SKLACELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- retina: 77 nTPM
- midbrain: 38 nTPM
- cervix: 32 nTPM
- pituitary gland: 31 nTPM
- cerebral cortex: 29 nTPM
- hypothalamus: 28 nTPM
Single-cell type
- rod photoreceptor cells: 310 nCPM
- somatotrophs: 219 nCPM
- thyrotrophs: 164 nCPM
- cone photoreceptor cells: 149 nCPM
- lactotrophs: 117 nCPM
- adrenal medulla cells: 96 nCPM
Immune cell
- memory CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- midbrain: 192 nTPM
- hippocampal formation: 94 nTPM
- pons: 86 nTPM
- hypothalamus: 86 nTPM
- cerebral cortex: 76 nTPM
- basal ganglia: 73 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUB.
Disease | AllUniProt
Conditions TUB is implicated in, by any mechanism.
- Retinal dystrophy and obesity (RDOB) MIM:616188
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 618 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinal dystrophy and obesity
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.56
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.47
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- intraciliary transport
- phagocytosis, recognition
- photoreceptor cell maintenance
- positive regulation of phagocytosis
- protein localization to cilium
- protein localization to photoreceptor outer segment
- receptor localization to non-motile cilium
- regulation of G protein-coupled receptor signaling pathway
- retina development in camera-type eye
- sensory perception of sound
Molecular functions
- G protein-coupled receptor binding
- intraciliary transport particle A binding
- protein-containing complex binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TUB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TUB as an antibody target. Whether an autoantibody or antibody against TUB could matter depends on whether native TUB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUB is annotated at the cell surface, where native TUB is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TUB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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