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 w... See more...

Aliases for TULP1 Gene

Aliases for TULP1 Gene

  • TUB Like Protein 1 2 3 5
  • Tubby-Related Protein 1 3 4
  • Tubby Like Protein 1 2 3
  • TUBL1 3 4
  • 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
  • GC06M038958
  • GC06M039649
  • GC06M039952
  • GC06M036298
  • GC06M036667
  • GC06M037020
  • GC06M037370
  • GC06M037726
  • GC06M038072
  • GC06M038462
  • GC06M038807

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 (TUB Like Protein 1) is a Protein Coding gene. Diseases associated with TULP1 include Leber Congenital Amaurosis 15 and Retinitis Pigmentosa 14. Gene Ontology (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 Summary 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

Additional gene information for TULP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TULP1 Gene

Genomics for TULP1 Gene

GeneHancer (GH) Regulatory Elements for TULP1 Gene

Promoters and enhancers for TULP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J035511 Promoter/Enhancer 0.8 Ensembl CraniofacialAtlas 510.1 +1.2 1178 1.4 EZH2 ZNF513 EGR1 PCBP1 TULP1 lnc-TEAD3-2 ENSG00000228559 UHRF1BP1 lnc-RPL10A-2 RF00017-5467
GH06J035512 Promoter 0.3 EPDnew 500.7 0.0 -14 0.1 TULP1 lnc-TEAD3-2 piR-38580-279 RF00017-5467
GH06J035317 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +194.3 194270 1.7 EP300 POLR2G CTCF ZNF10 ZIC2 ZBTB10 GABPA ZBTB26 TRIM28 ZBTB7A NONHSAG043650.2 lnc-TEAD3-5 ZNF76 TAF11 BRPF3 DEF6 PPARD TCP11 TEAD3 TULP1
GH06J035483 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6 +20.3 20341 18.1 HNRNPK NRF1 POLR2G USF1 GTF2E2 TEAD4 ZFX CTCF ZNF639 ZNF10 TEAD3 TAF11 RPL10A ENSG00000228559 ENSG00000219023 MAPK14 KCTD20 FANCE ENSG00000237719 TULP1
GH06J035544 Enhancer 0.8 Ensembl ENCODE 18.4 -32.2 -32170 1.3 ZNF217 ZIC2 KLF4 GATAD2B CTBP1 CTCF MBD2 DPF2 ZFP64 GATA3 LOC101929309 TULP1 ENSG00000228559 TEAD3 FKBP5 ARMC12 ENSG00000232909 PPARD RPS15AP19 RF00017-5467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TULP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TULP1

Top Transcription factor binding sites by QIAGEN in the TULP1 gene promoter:
  • AP-4
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-3
  • MIF-1
  • Pax-2b

Genomic Locations for TULP1 Gene

Genomic Locations for TULP1 Gene
chr6:35,497,874-35,512,902
(GRCh38/hg38)
Size:
15,029 bases
Orientation:
Minus strand
chr6:35,465,651-35,480,715
(GRCh37/hg19)
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).

    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

Gene Families for TULP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TULP1 Gene

Blocks:
  • Tubby
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TULP1 Gene

GenScript: Design optimal peptide antigens:
  • Tubby-related protein 1 (F1T0I9_HUMAN)
  • Tubby-related protein 1 (F1T0J0_HUMAN)
  • Tubby like protein 1 (Q0QD38_HUMAN)
  • Tubby-like protein 1 (TULP1_HUMAN)

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

Function for TULP1 Gene

Molecular function for TULP1 Gene

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.
GENATLAS Biochemistry:
tubby-like protein 1,highly expressed in retina,in photoreceptor cells,involved in normal photoreceptor function and in retinal development

Phenotypes From GWAS Catalog for TULP1 Gene

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 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

Clone 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 4
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 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 IEA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TULP1 Gene

Pathways & Interactions for TULP1 Gene

PathCards logo

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 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

Drugs & Compounds for TULP1 Gene

No Compound Related Data Available

Transcripts for TULP1 Gene

mRNA/cDNA for TULP1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for TULP1 Gene

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



Protein tissue co-expression partners for TULP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TULP1 31 30
  • 85.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TULP1 31 30
  • 85.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tulp1 17 31 30
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Tulp1 30
  • 80.85 (n)
oppossum
(Monodelphis domestica)
Mammalia TULP1 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 9 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TULP1 31 30
  • 69.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TULP1 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tulp1 30
  • 59.71 (n)
zebrafish
(Danio rerio)
Actinopterygii tulp1b 31
  • 47 (a)
OneToMany
tulp1a 31
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tulp 32
  • 60 (a)
king-tubby 31
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tub-1 31 32
  • 41 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1812 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for TULP1: view image

Paralogs for TULP1 Gene

Paralogs for TULP1 Gene

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

  • TULP1_HUMAN
  • F1T0I9_HUMAN
  • F1T0J0_HUMAN
  • Q0QD38_HUMAN
  • Q5TGM7_HUMAN
genes like me logo Genes that share paralogs with TULP1: view

Variants for TULP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TULP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
636207 Uncertain Significance: Retinitis pigmentosa 35,499,975(-) A/G INTRON_VARIANT
636208 Likely Pathogenic: Retinitis pigmentosa 35,510,999(-) C/A NONSENSE
707591 Likely Benign: not provided 35,510,933(-) G/C MISSENSE_VARIANT
708433 Likely Benign: not provided 35,506,156(-) C/G SYNONYMOUS_VARIANT
724435 Likely Benign: not provided 35,511,775(-) A/C SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TULP1 Gene

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)

Additional Variant Information for TULP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TULP1 Gene

MalaCards: The human disease database

(44) MalaCards diseases for TULP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
  • 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.
  • 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.

Additional Disease Information for TULP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MA … Nishina PM (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  2. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. (PMID: 17620573) den Hollander AI … Hoyng CB (Archives of ophthalmology (Chicago, Ill. : 1960) 2007) 3 4 23 54
  3. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. (PMID: 17962469) Mataftsi A … Munier FL (Investigative ophthalmology & visual science 2007) 3 4 23 54
  4. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. (PMID: 15557452) Kondo H … Hayashi K (Investigative ophthalmology & visual science 2004) 3 4 23 54
  5. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. (PMID: 9660588) Gu S … Wright A (Lancet (London, England) 1998) 3 4 23 54

Products for TULP1 Gene

Sources for TULP1 Gene