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Aliases for TULP1 Gene

Aliases for TULP1 Gene

  • Tubby Like Protein 1 2 3 5
  • TUBL1 3 4
  • Tubby-Related Protein 1 3
  • Tubby-Like Protein 1 4
  • LCA15 3
  • RP14 3

External Ids for TULP1 Gene

Previous HGNC Symbols for TULP1 Gene

  • RP14

Previous GeneCards Identifiers for TULP1 Gene

  • GC06M035467
  • GC06M035512
  • GC06M035573
  • GC06M035186
  • GC06M035465
  • GC06M035629
  • GC06M035641
  • GC06M036298
  • GC06M036667
  • GC06M037020

Summaries for TULP1 Gene

Entrez Gene Summary for TULP1 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]

GeneCards Summary for TULP1 Gene

TULP1 (Tubby Like Protein 1) is a Protein Coding gene. Diseases associated with TULP1 include Leber Congenital Amaurosis 15 and Retinitis Pigmentosa 14. GO annotations related to this gene include actin filament binding and G-protein coupled photoreceptor activity. An important paralog of this gene is TUB.

UniProtKB/Swiss-Prot for TULP1 Gene

  • Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

Gene Wiki entry for TULP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TULP1 Gene

Genomics for TULP1 Gene

Regulatory Elements for TULP1 Gene

Enhancers for TULP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G035483 2.6 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6 +20.4 20377 18.1 CREB3L1 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000272374 TEAD3 ENSG00000228559 FANCE RPL10A ENSG00000219023 TAF11 TULP1 UHRF1BP1 DEF6
GH06G035594 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.4 -86.9 -86876 9.9 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF48 ZNF121 FOS SP3 TSHZ1 ENSG00000272374 FKBP5 ENSG00000212579 ARMC12 ENSG00000232909 ENSG00000228559 TULP1 DEF6 MAPK14 RPL10A
GH06G035317 1.2 ENCODE dbSUPER 11.3 +194.3 194298 1.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 ZNF548 ZNF263 SP3 DEF6 ZNF76 PPARD TCP11 TEAD3 TULP1
GH06G035544 0.7 ENCODE 18.4 -32.1 -32134 1.3 CTCF ZFP64 KLF4 DPF2 ZIC2 ZNF217 MBD2 CTBP1 GATA3 HMBOX1 TULP1 ENSG00000228559 TEAD3 FKBP5 ARMC12 ENSG00000232909 PPARD RPS15AP19
GH06G035247 1.1 ENCODE dbSUPER 10.8 +264.7 264654 0.8 CTCF TAL1 BACH1 ZIC2 FOSL1 TCF12 ZNF316 POLR2A GATA2 EED DEF6 ZNF76 SCUBE3 TEAD3 TULP1 TCP11 PIR55616 GC06M037880
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TULP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TULP1 Gene

Chromosome:
6
Start:
35,497,874 bp from pter
End:
35,512,938 bp from pter
Size:
15,065 bases
Orientation:
Minus strand

Genomic View for TULP1 Gene

Genes around TULP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TULP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TULP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TULP1 Gene

Proteins for TULP1 Gene

  • Protein details for TULP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00294-TULP1_HUMAN
    Recommended name:
    Tubby-related protein 1
    Protein Accession:
    O00294
    Secondary Accessions:
    • O43536
    • Q5TGM5
    • Q8N571

    Protein attributes for TULP1 Gene

    Size:
    542 amino acids
    Molecular mass:
    60609 Da
    Quaternary structure:
    • Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). Interacts with TYRO3 (By similarity).
    SequenceCaution:
    • Sequence=CAI20251.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TULP1 Gene

    Alternative splice isoforms for TULP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TULP1 Gene

Post-translational modifications for TULP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TULP1 Gene

No data available for DME Specific Peptides for TULP1 Gene

Domains & Families for TULP1 Gene

Protein Domains for TULP1 Gene

Suggested Antigen Peptide Sequences for TULP1 Gene

Graphical View of Domain Structure for InterPro Entry

O00294

UniProtKB/Swiss-Prot:

TULP1_HUMAN :
  • Belongs to the TUB family.
Family:
  • Belongs to the TUB family.
genes like me logo Genes that share domains with TULP1: view

No data available for Gene Families for TULP1 Gene

Function for TULP1 Gene

Molecular function for TULP1 Gene

GENATLAS Biochemistry:
tubby-like protein 1,highly expressed in retina,in photoreceptor cells,involved in normal photoreceptor function and in retinal development
UniProtKB/Swiss-Prot Function:
Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

Gene Ontology (GO) - Molecular Function for TULP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 16303976
GO:0051015 actin filament binding IEA,IDA 16303976
genes like me logo Genes that share ontologies with TULP1: view
genes like me logo Genes that share phenotypes with TULP1: view

Human Phenotype Ontology for TULP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TULP1 Gene

MGI Knock Outs for TULP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TULP1 Gene

Localization for TULP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TULP1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted. Cell junction, synapse. Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TULP1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for TULP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment ISS --
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TULP1: view

Pathways & Interactions for TULP1 Gene

SuperPathways for TULP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TULP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 15557452
GO:0006909 phagocytosis IEA --
GO:0006910 phagocytosis, recognition IEA --
GO:0007601 visual perception TAS,IEA 9462750
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with TULP1: view

No data available for Pathways by source and SIGNOR curated interactions for TULP1 Gene

Transcripts for TULP1 Gene

Unigene Clusters for TULP1 Gene

Tubby like protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TULP1 Gene

No ASD Table

Relevant External Links for TULP1 Gene

GeneLoc Exon Structure for
TULP1
ECgene alternative splicing isoforms for
TULP1

Expression for TULP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TULP1 Gene

Protein differential expression in normal tissues from HIPED for TULP1 Gene

This gene is overexpressed in Retina (59.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TULP1 Gene



Protein tissue co-expression partners for TULP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TULP1 Gene:

TULP1

SOURCE GeneReport for Unigene cluster for TULP1 Gene:

Hs.485208

mRNA Expression by UniProt/SwissProt for TULP1 Gene:

O00294-TULP1_HUMAN
Tissue specificity: Retina-specific.

Evidence on tissue expression from TISSUES for TULP1 Gene

  • Eye(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TULP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • olfactory bulb
  • outer ear
  • skull
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TULP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TULP1 Gene

Orthologs for TULP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TULP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TULP1 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia TULP1 34 35
  • 85.89 (n)
cow
(Bos Taurus)
Mammalia TULP1 34 35
  • 85.07 (n)
mouse
(Mus musculus)
Mammalia Tulp1 34 16 35
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Tulp1 34
  • 80.85 (n)
oppossum
(Monodelphis domestica)
Mammalia TULP1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 9 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TULP1 34 35
  • 69.69 (n)
lizard
(Anolis carolinensis)
Reptilia TULP1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tulp1 34
  • 59.71 (n)
zebrafish
(Danio rerio)
Actinopterygii tulp1a 35
  • 47 (a)
OneToMany
tulp1b 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tulp 36
  • 60 (a)
king-tubby 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tub-1 36 35
  • 58 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1812 34
Species where no ortholog for TULP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TULP1 Gene

ENSEMBL:
Gene Tree for TULP1 (if available)
TreeFam:
Gene Tree for TULP1 (if available)

Paralogs for TULP1 Gene

Paralogs for TULP1 Gene

(3) SIMAP similar genes for TULP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TULP1: view

Variants for TULP1 Gene

Sequence variations from dbSNP and Humsavar for TULP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121909073 Pathogenic, Retinitis pigmentosa 14 (RP14) [MIM:600132] 35,503,623(-) CCGGC(C/G)CATGA reference, missense
rs121909074 Pathogenic, Retinitis pigmentosa 14 (RP14) [MIM:600132] 35,500,005(-) AGAAC(C/T)TCCAG reference, missense
rs121909075 Pathogenic, Retinitis pigmentosa 14 (RP14) [MIM:600132] 35,500,100(-) CCTCA(A/C/T)AGAAC reference, missense
rs121909076 Pathogenic, Retinitis pigmentosa 14 (RP14) [MIM:600132] 35,503,816(-) GGTCT(C/T)TGACA reference, missense
rs121909077 Pathogenic, Retinitis pigmentosa 14 (RP14) [MIM:600132] 35,500,032(-) AAGGC(C/T)GGGTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TULP1 Gene

Variant ID Type Subtype PubMed ID
dgv10625n54 CNV gain 21841781
dgv5956n100 CNV gain 25217958
esv2233598 CNV deletion 18987734
esv23268 CNV loss 19812545
esv2759420 CNV gain 17122850
esv2761067 CNV gain 21179565
nsv462909 CNV loss 19166990
nsv519370 CNV loss 19592680
nsv528351 CNV loss 19592680
nsv602912 CNV loss 21841781

Variation tolerance for TULP1 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TULP1 Gene

Human Gene Mutation Database (HGMD)
TULP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TULP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TULP1 Gene

Disorders for TULP1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TULP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TULP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TULP1_HUMAN
  • Leber congenital amaurosis 15 (LCA15) [MIM:613843]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:15024725, ECO:0000269 PubMed:17962469}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 14 (RP14) [MIM:600132]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15557452, ECO:0000269 PubMed:17620573, ECO:0000269 PubMed:19837063, ECO:0000269 PubMed:9462750, ECO:0000269 PubMed:9660588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TULP1

Genetic Association Database (GAD)
TULP1
Human Genome Epidemiology (HuGE) Navigator
TULP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TULP1
genes like me logo Genes that share disorders with TULP1: view

No data available for Genatlas for TULP1 Gene

Publications for TULP1 Gene

  1. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. (PMID: 9096357) North M.A. … Nishina P.M. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  2. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. (PMID: 17620573) den Hollander A.I. … Hoyng C.B. (Arch. Ophthalmol. 2007) 3 4 22 64
  3. Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration. (PMID: 17962469) Mataftsi A. … Munier F.L. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 22 64
  4. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. (PMID: 15557452) Kondo H. … Hayashi K. (Invest. Ophthalmol. Vis. Sci. 2004) 3 4 22 64
  5. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. (PMID: 9462750) Hagstrom S.A. … Dryja T.P. (Nat. Genet. 1998) 3 4 22 64

Products for TULP1 Gene

Sources for TULP1 Gene

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