TULP3
Tubby-related protein 3
Also known as: TUBL3, TULP3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75386
- Gene
- TULP3
- Ensembl
- ENSG00000078246
- Chromosome
- 12
- Canonical length
- 442 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Plasma membrane,Primary cilium,Primary cilium transition zone,Basal body
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
Canonical amino-acid sequenceUniProt
442 residues, UniProt reviewed canonical sequence.
>O75386|TULP3
1 MEASRCRLSP SGDSVFHEEM MKMRQAKLDY QRLLLEKRQR KKRLEPFMVQ PNPEARLRRA
61 KPRASDEQTP LVNCHTPHSN VILHGIDGPA AVLKPDEVHA PSVSSSVVEE DAENTVDTAS
121 KPGLQERLQK HDISESVNFD EETDGISQSA CLERPNSASS QNSTDTGTSG SATAAQPADN
181 LLGDIDDLED FVYSPAPQGV TVRCRIIRDK RGMDRGLFPT YYMYLEKEEN QKIFLLAARK
241 RKKSKTANYL ISIDPVDLSR EGESYVGKLR SNLMGTKFTV YDRGICPMKG RGLVGAAHTR
301 QELAAISYET NVLGFKGPRK MSVIIPGMTL NHKQIPYQPQ NNHDSLLSRW QNRTMENLVE
361 LHNKAPVWNS DTQSYVLNFR GRVTQASVKN FQIVHKNDPD YIVMQFGRVA DDVFTLDYNY
421 PLCAVQAFGI GLSSFDSKLA CELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TULP3 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)
- 0.43
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- ovary: 34 nTPM
- cervix: 30 nTPM
- blood vessel: 25 nTPM
- skin: 24 nTPM
- vagina: 23 nTPM
- fallopian tube: 23 nTPM
Single-cell type
- retinal horizontal cells: 180 nCPM
- esophageal apical cells: 134 nCPM
- müller glia: 125 nCPM
- differentiating spermatogonia: 117 nCPM
- fibro-adipogenic progenitors: 113 nCPM
- ovarian stromal cells: 108 nCPM
Immune cell
- MAIT T-cell: 3.5 nTPM
- T-reg: 3.3 nTPM
- naive CD8 T-cell: 2.8 nTPM
- NK-cell: 2.8 nTPM
- memory CD8 T-cell: 2.2 nTPM
- gdT-cell: 2.1 nTPM
Brain region
- cerebellum: 26 nTPM
- white matter: 21 nTPM
- cerebral cortex: 20 nTPM
- medulla oblongata: 20 nTPM
- choroid plexus: 19 nTPM
- midbrain: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TULP3.
Disease | AllUniProt
Conditions TULP3 is implicated in, by any mechanism.
- Hepatorenocardiac degenerative fibrosis (HRCDF) MIM:619902
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 124 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hepatorenocardiac degenerative fibrosis
- Acute myeloid leukemia
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)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.26
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- bone development
- brain development
- bronchus morphogenesis
- central nervous system neuron differentiation
- embryonic camera-type eye development
- embryonic digit morphogenesis
- embryonic neurocranium morphogenesis
- G protein-coupled receptor signaling pathway
- negative regulation of smoothened signaling pathway
- neural tube closure
- protein localization to cilium
- regulation of DNA-templated transcription
- regulation of G protein-coupled receptor signaling pathway
- smoothened signaling pathway involved in dorsal/ventral neural tube patterning
- spinal cord dorsal/ventral patterning
- ganglion development
Molecular functions
- enzyme binding
- G protein-coupled receptor binding
- intraciliary transport particle A binding
- phosphatidylinositol binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein-containing complex binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TULP3 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 TULP3 as an antibody target. Whether an autoantibody or antibody against TULP3 could matter depends on whether native TULP3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TULP3 is annotated at the cell surface, where native TULP3 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 TULP3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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