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Aliases for TULP1 Gene

Aliases for TULP1 Gene

  • Tubby Like Protein 1 2 3
  • LCA15 3 6
  • TUBL1 3 4
  • RP14 3 6
  • Tubby-Related Protein 1 3
  • Tubby-Like Protein 1 4

External Ids for TULP1 Gene

Previous Symbols for TULP1 Gene

  • RP14

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 and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for TULP1 Gene

TULP1 (Tubby Like Protein 1) is a Protein Coding gene. Diseases associated with TULP1 include retinitis pigmentosa 14 and leber congenital amaurosis 15. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TULP1 Gene

Genomics for TULP1 Gene

Genomic Location for TULP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TULP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TULP1 Gene

Regulatory Elements 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

Proteomics data for TULP1 Gene at MOPED

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 for TULP1 Gene

Protein Domains for TULP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TULP1 Gene

Graphical View of Domain Structure for InterPro Entry

O00294

UniProtKB/Swiss-Prot:

TULP1_HUMAN
Family:
  • Belongs to the TUB family.:
    • O00294
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:0008020 G-protein coupled photoreceptor activity IEA --
GO:0051015 actin filament binding IDA 16303976
genes like me logo Genes that share ontologies with TULP1: view
genes like me logo Genes that share phenotypes with TULP1: view

Animal Models for TULP1 Gene

MGI Knock Outs for TULP1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for TULP1 Gene COMPARTMENTS Subcellular localization image for TULP1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
extracellular 2
cytoskeleton 1

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:0005886 plasma membrane IDA 16303976
genes like me logo Genes that share ontologies with TULP1: view

Pathways 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:0007601 visual perception TAS 9462750
GO:0007602 phototransduction IEA --
GO:0016358 dendrite development ISS --
genes like me logo Genes that share ontologies with TULP1: view

No data available for Pathways by source for TULP1 Gene

Transcripts for TULP1 Gene

Unigene Clusters for TULP1 Gene

Tubby like protein 1:
Representative Sequences:

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 for TULP1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TULP1 Gene

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

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 35
  • 99.63 (n)
  • 99.26 (a)
TULP1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TULP1 35
  • 85.07 (n)
  • 83.46 (a)
TULP1 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TULP1 35
  • 85.89 (n)
  • 86.14 (a)
TULP1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tulp1 35
  • 82.04 (n)
  • 81.47 (a)
Tulp1 16
Tulp1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TULP1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 9 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tulp1 35
  • 80.85 (n)
  • 81.64 (a)
chicken
(Gallus gallus)
Aves TULP1 35
  • 69.69 (n)
  • 69.49 (a)
TULP1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TULP1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tulp1 35
  • 59.71 (n)
  • 63.14 (a)
zebrafish
(Danio rerio)
Actinopterygii tulp1a 36
  • 47 (a)
OneToMany
tulp1b 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta king-tubby 36
  • 38 (a)
OneToMany
Tulp 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea tub-1 36
  • 41 (a)
OneToMany
tub-1 37
  • 58 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1812 35
Species with no ortholog for TULP1:
  • 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

Selected 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 MAF
rs1540910 -- 35,512,485(-) TGGGG(A/G)CTTGG intron-variant
rs1883636 -- 35,500,882(+) GGCAT(A/G)GGAAG intron-variant
rs2050162 -- 35,514,745(-) GGTTG(G/T)TTGGT upstream-variant-2KB
rs2064317 untested, - 35,509,255(-) GGTGA(C/T)AAAGA missense, reference
rs2064318 Benign, - 35,509,248(-) AAGAA(C/G)AGCAA missense, reference

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

Variant ID Type Subtype PubMed ID
nsv528351 CNV Loss 19592680
nsv519370 CNV Loss 19592680
nsv462909 CNV Loss 19166990
dgv1940e1 CNV Complex 17122850
esv23268 CNV Loss 19812545
esv2233598 CNV Deletion 18987734

Relevant External Links for TULP1 Gene

HapMap Linkage Disequilibrium report
TULP1
Human Gene Mutation Database (HGMD)
TULP1
Locus Specific Mutation Databases (LSDB)
TULP1

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

Disorders for TULP1 Gene

(2) OMIM Diseases for TULP1 Gene (602280)

UniProtKB/Swiss-Prot

TULP1_HUMAN
  • 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:9462750, ECO:0000269 PubMed:9660588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(6) Novoseek inferred disease relationships for TULP1 Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 94.8 3
retinitis pigmentosa 88.2 10
retinal degeneration 83.8 11
cone-rod dystrophy 79.3 1
retinopathy 54.1 1

Relevant External Links for TULP1

GeneTests
TULP1
GeneReviews
TULP1
Genetic Association Database (GAD)
TULP1
Human Genome Epidemiology (HuGE) Navigator
TULP1
genes like me logo Genes that share disorders with TULP1: view

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 23
  2. 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 23
  3. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. (PMID: 9660588) Gu S. … Wright A. (Lancet 1998) 3 4 23
  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 23
  5. 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 23

Products for TULP1 Gene

Sources for TULP1 Gene

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