TULP1

Protein identityUniProt · HPA

UniProt accession

O00294

Gene

TULP1

Ensembl

ENSG00000112041

Chromosome

6

Canonical length

542 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]

Canonical amino-acid sequenceUniProt

542 residues, UniProt reviewed canonical sequence.

>O00294|TULP1
     1  MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR
    61  KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE
   121  EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR
   181  VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG
   241  TPKGARKEEE EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP
   301  QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY LISIDPTNLS
   361  RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR QELAAVIYET NVLGFRGPRR
   421  MTVIIPGMSA ENERVPIRPR NASDGLLVRW QNKTLESLIE LHNKPPVWND DSGSYTLNFQ
   481  GRVTQASVKN FQIVHADDPD YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA
   541  CE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TULP1 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)

0.47

Highest tissue expression

194 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TULP1.

Disease | AllUniProt

Conditions TULP1 is implicated in, by any mechanism.

• Retinitis pigmentosa 14 (RP14) MIM:600132
• Leber congenital amaurosis 15 (LCA15) MIM:613843

Disease | GeneticClinVar

150 pathogenic / likely-pathogenic of 867 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 14
• Leber congenital amaurosis 15
• Retinal dystrophy
• Leber congenital amaurosis
• Retinitis pigmentosa

ReferencesPubMed · IEDB

Publications for TULP1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.61

gnomAD pLI

0

gnomAD missense Z

0.65

DepMap mean gene effect

-0.09

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

• dendrite development
• detection of light stimulus involved in visual perception
• eye photoreceptor cell development
• phagocytosis, recognition
• photoreceptor cell maintenance
• positive regulation of phagocytosis
• protein localization to cilium
• protein localization to photoreceptor outer segment
• retina development in camera-type eye
• retina homeostasis
• visual perception

Molecular functions

• actin filament binding
• phosphatidylinositol-4,5-bisphosphate binding

Cellular components

• axon terminus
• cell projection
• cilium
• cytosol
• extracellular region
• photoreceptor inner segment
• photoreceptor outer segment
• plasma membrane
• synapse

Protein domainsUniProt · Pfam · InterPro

• Tubby, C-terminal
• Tubby, C-terminal, conserved site
• Tubby-like, C-terminal
• Tub family

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Leber congenital amaurosis
• Membrane
• Phagocytosis
• Retinitis pigmentosa
• Secreted
• Sensory transduction
• Synapse
• Vision

InteractionsUniProt · HPA

Protein binding partners of TULP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNM1
• TUB
• TYRO3