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TULP1 Gene

protein-coding   GIFtS: 60
GCID: GC06M035465

Tubby Like Protein 1


(Previous symbol: RP14)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tubby Like Protein 11 2
RP141 2 5
TUBL12 3
LCA152 5
Tubby-Related Protein 12
Tubby-Like Protein 13

External Ids:    HGNC: 124231   Entrez Gene: 72872   Ensembl: ENSG000001120417   OMIM: 6022805   UniProtKB: O002943   

Export aliases for TULP1 gene to outside databases

Previous GC identifers: GC06M035467 GC06M035512 GC06M035573 GC06M035186


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leber congenital amaurosis 15, and tulp1-related retinitis pigmentosa. GO annotations related to this gene include actin filament binding and G-protein coupled photoreceptor activity. An important paralog of this gene is TULP2.

UniProtKB/Swiss-Prot: TULP1_HUMAN, O00294
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 Wiki entry for TULP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TULP1 gene promoter:
         E2F-3a   E2F-4   E2F-5   GATA-3   MIF-1   AP-4   E2F-2   Pax-2b   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTULP1 promoter sequence
   Search Chromatin IP Primers for TULP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TULP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.3

TULP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TULP1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M035465:  view genomic region     (about GC identifiers)

Start:
35,465,651 bp from pter      End:
35,480,715 bp from pter
Size:
15,065 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TULP1_HUMAN, O00294 (See protein sequence)
Recommended Name: Tubby-related protein 1  
Size: 542 amino acids; 60609 Da
Subunit: 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)
Sequence caution: Sequence=CAI20251.1; Type=Erroneous gene model prediction;
2 PDB 3D structures from and Proteopedia for TULP1:
2FIM (3D)        3C5N (3D)    
Secondary accessions: O43536 Q5TGM5 Q8N571
Alternative splicing: 2 isoforms:  O00294-1   O00294-2   

Explore the universe of human proteins at neXtProt for TULP1: NX_O00294

Explore proteomics data for TULP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TULP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001276324.1  NP_003313.3  

    ENSEMBL proteins: 
     ENSP00000319414   ENSP00000229771   ENSP00000406765  

    TULP1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR025659 Tubby_C-like
     IPR018066 Tubby_C_CS
     IPR000007 Tubby_C

    Graphical View of Domain Structure for InterPro Entry O00294

    ProtoNet protein and cluster: O00294

    1 Blocks protein domain: IPB000007 Tubby

    UniProtKB/Swiss-Prot: TULP1_HUMAN, O00294
    Similarity: Belongs to the TUB family


    TULP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TULP1_HUMAN, O00294
    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 entry for TULP1:
    tubby-like protein 1,highly expressed in retina,in photoreceptor cells,involved in normal photoreceptor function
    and in retinal development

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA16303976
    GO:0008020G-protein coupled photoreceptor activity IEA--
    GO:0051015actin filament binding IDA16303976
         
    TULP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TULP1:
     Decreased Salmonella enterica  

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tulp1):
     cardiovascular system  cellular  growth/size/body  hearing/vestibular/ear  nervous system 
     pigmentation  vision/eye 

    TULP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tulp1tm1Pjn for TULP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TULP1
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    hsa-miR-576-3p hsa-miR-134 hsa-miR-3118
    SwitchGear 3'UTR luciferase reporter plasmidTULP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TULP1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TULP1_HUMAN, O00294: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted (By
    similarity). Cell junction, synapse (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytosol2
    extracellular2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment ISS--
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IDA16303976

    TULP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TULP1
    Interactions:

        Search GeneGlobe Interaction Network for TULP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for TULP1 (O002941, 3 ENSP000002297714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1756778,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    TBC1D5ENSP000004029354STRING: ENSP00000402935
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006909phagocytosis IEA--
    GO:0007601visual perception IEA--
    GO:0007602phototransduction IEA--
    GO:0009584detection of visible light ----
    GO:0016358dendrite development ISS--

    TULP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TULP1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TULP1 gene (2 alternative transcripts): 
    NM_001289395.1  NM_003322.4  

    Unigene Cluster for TULP1:

    Tubby like protein 1
    Hs.485208  [show with all ESTs]
    Unigene Representative Sequence: U82468
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322263(uc003okw.4) ENST00000229771(uc003okv.4 uc021yyx.1 uc021yyy.1)
    ENST00000495781 ENST00000496434 ENST00000373892 ENST00000428978 ENST00000448446

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    3 qRT-PCR Assays for microRNAs that regulate TULP1:
    hsa-miR-576-3p hsa-miR-134 hsa-miR-3118
    SwitchGear 3'UTR luciferase reporter plasmidTULP1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TULP1

    Additional mRNA sequence: 

    AB593123.1 AB593124.1 BC032714.1 BC065261.1 DQ426893.1 U82468.1 

    7 DOTS entries:

    DT.100021739  DT.91849174  DT.408796  DT.99984046  DT.91660628  DT.91975618  DT.97803463 

    Selected AceView cDNA sequences (see all 47):

    BM710012 BQ638611 BM672988 BM671162 BM690201 BU729804 BM663859 BE778818 
    BM662140 BM715213 BM702753 BX091600 CA392792 NM_003322 BU681480 BE618519 
    BE783133 BU193288 BX491387 BQ640101 BM704329 BE780807 AI380477 BM688082 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TULP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGCGGAGA
    TULP1 Expression
    About this image

    TULP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TULP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485208

    UniProtKB/Swiss-Prot: TULP1_HUMAN, O00294
    Tissue specificity: Retina-specific

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TULP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tulp11 , 5 tubby like protein 11, 5 82.04(n)1
    81.47(a)1
      17 (14.66 cM)5
    221571  NM_021478.11  NP_067453.11 
     283515155 
    chicken
    (Gallus gallus)
    Aves TULP11 tubby like protein 1 69.69(n)
    69.49(a)
      395321  NM_204615.1  NP_989946.1 
    lizard
    (Anolis carolinensis)
    Reptilia TULP16
    tubby like protein 1
    68(a)
    1 ↔ 1
    GL343382.1(955054-984969)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tulp11 tubby like protein 1 59.71(n)
    63.14(a)
      549236  NM_001016482.2  NP_001016482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tulp1b6
    tulp1a6
    tubby like protein 1a
    47(a)
    47(a)
    1 ↔ many
    1 ↔ many
    6(54494106-54522540) ENSDARG00000078210
    23(5513080-5542633) ENSDARG00000075295
    fruit fly
    (Drosophila melanogaster)
    Insecta Tulp3   -- 60(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea tub-13 Tub family protein tub-1 58(a)   II(8154693-8156859)   --
    barley
    (Hordeum vulgare)
    Liliopsida Hv.18122 Transcribed sequence with weak similarity to protein more 76.69(n)    AL502428.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TULP1 gene
    TULP22  TULP42  TUB2  WDR352  TULP32  
    3 SIMAP similar genes for TULP1 using alignment to 5 protein entries:     TULP1_HUMAN (see all proteins):
    TULP3    TULP2    TUB

    TULP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TULP1 (see all 464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219090751,2,,4
    C,FRetinitis pigmentosa 14 (RP14)4 pathogenic135382335(-) CCTCAA/C/TAGAAC 2 K I mis11NA 4552
    rs1382007471,2,,4
    CRetinitis pigmentosa 14 (RP14)4 --35382350(+) CCAGCA/GTCTTG 2 T M mis10--------
    VAR_0655014
    Leber congenital amaurosis 15 (LCA15)4--see VAR_0655012 R W mis40--------
    VAR_0375844
    Retinitis pigmentosa 14 (RP14)4--see VAR_0375842 F S mis40--------
    VAR_0655024
    Retinitis pigmentosa 14 (RP14)4--see VAR_0655022 R W mis40--------
    VAR_0655004
    Leber congenital amaurosis 15 (LCA15)4--see VAR_0655002 G W mis40--------
    VAR_0082784
    Retinitis pigmentosa 14 (RP14)4--see VAR_0082782 R H mis40--------
    VAR_0082754
    Retinitis pigmentosa 14 (RP14)4--see VAR_0082752 A V mis40--------
    VAR_0079434
    Retinitis pigmentosa 14 (RP14)4--see VAR_0079432 F L mis40--------
    VAR_0082774
    Retinitis pigmentosa 14 (RP14)4--see VAR_0082772 K T mis40--------

    HapMap Linkage Disequilibrium report for TULP1 (35465651 - 35480715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TULP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2233598CNV Deletion18987734
    nsv528351CNV Loss19592680
    esv23268CNV Loss19812545
    nsv462909CNV Loss19166990
    nsv519370CNV Loss19592680
    dgv1940e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TULP1
    Locus Specific Mutation Databases (LSDB): TULP1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602280   
    OMIM disorders: 600132  613843  
    UniProtKB/Swiss-Prot: TULP1_HUMAN, O00294
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for TULP1 (see all 24):    About MalaCards
    leber congenital amaurosis 15    tulp1-related retinitis pigmentosa    tulp1-related leber congenital amaurosis    cancer-associated retinopathy
    retinitis pigmentosa 14    leber congenital amaurosis    fundus dystrophy    hyperopia
    leber congenital amaurosis 17    rhyns syndrome    retinitis pigmentosa    retinal degeneration
    cone-rod dystrophy    retinal disease    coloboma    night blindness
    keratoconus    retinitis    blindness    obesity

    4 diseases from the University of Copenhagen DISEASES database for TULP1:
    Retinitis pigmentosa     Leber congenital amaurosis     cone-rod dystrophy     Fundus dystrophy

    TULP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for TULP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 94.8 3 18432314 (1), 10440267 (1), 17962469 (1)
    retinitis pigmentosa 88.2 13 17620573 (3), 10711677 (2), 9660588 (1), 18432314 (1) (see all 7)
    retinal degeneration 83.8 14 10440267 (4), 9096357 (1), 10607826 (1), 17962469 (1) (see all 8)
    cone-rod dystrophy 79.3 1 9096357 (1)
    retinopathy 54.1 1 10674986 (1)
    obesity 8.51 1 10607826 (1)

    GeneTests: TULP1
    GeneReviews: TULP1
    Genetic Association Database (GAD): TULP1
    Human Genome Epidemiology (HuGE) Navigator: TULP1 (2 documents)

    Export disorders for TULP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TULP1 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with TULP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. (PubMed id 9096357)1, 2, 3, 9 North M.A.... Nishina P.M. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. (PubMed id 17620573)1, 2, 9 den Hollander A.I.... Hoyng C.B. (Arch. Ophthalmol. 2007)
    3. Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration. (PubMed id 17962469)1, 2, 9 Mataftsi A.... Munier F.L. (Invest. Ophthalmol. Vis. Sci. 2007)
    4. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. (PubMed id 9660588)1, 2, 9 Gu S....Wright A. (Lancet 1998)
    5. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. (PubMed id 9462750)1, 2, 9 Hagstrom S.A.... Dryja T.P. (Nat. Genet. 1998)
    6. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. (PubMed id 15557452)1, 2, 9 Kondo H.... Hayashi K. (Invest. Ophthalmol. Vis. Sci. 2004)
    7. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    8. Identification of tubby and tubby-like protein 1 as eat-me signals by phage display. (PubMed id 19837063)1, 2 Caberoy N.B.... Li W. (Exp. Cell Res. 2010)
    9. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    10. Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells. (PubMed id 16303976)1, 2 Xi Q.... Hagstrom S.A. (Invest. Ophthalmol. Vis. Sci. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7287 HGNC: 12423 AceView: TULP1 Ensembl:ENSG00000112041 euGenes: HUgn7287
    ECgene: TULP1 H-InvDB: TULP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TULP1 Pharmacogenomics, SNPs, Pathways
    Mutations of the TULP1 genehttp://www.retina-international.org/files/sci-news/tulpmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TULP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TULP1 gene:
    Search GeneIP for patents involving TULP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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