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TULP1 (TUB like protein 1)

Identity

Alias (NCBI)LCA15
RP14
TUBL1
HGNC (Hugo) TULP1
HGNC Alias symbTUBL1
LCA15
HGNC Previous nameRP14
LocusID (NCBI) 7287
Atlas_Id 75377
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 35497874 and ends at 35512896 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TULP1   12423
Cards
Entrez_Gene (NCBI)TULP1    TUB like protein 1
AliasesLCA15; RP14; TUBL1
GeneCards (Weizmann)TULP1
Ensembl hg19 (Hinxton)ENSG00000112041 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112041 [Gene_View]  ENSG00000112041 [Sequence]  chr6:35497874-35512896 [Contig_View]  TULP1 [Vega]
ICGC DataPortalENSG00000112041
TCGA cBioPortalTULP1
AceView (NCBI)TULP1
Genatlas (Paris)TULP1
SOURCE (Princeton)TULP1
Genetics Home Reference (NIH)TULP1
Genomic and cartography
GoldenPath hg38 (UCSC)TULP1  -     chr6:35497874-35512896 -  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TULP1  -     6p21.31   [Description]    (hg19-Feb_2009)
GoldenPathTULP1 - 6p21.31 [CytoView hg19]  TULP1 - 6p21.31 [CytoView hg38]
ImmunoBaseENSG00000112041
Genome Data Viewer NCBITULP1 [Mapview hg19]  
OMIM600132   602280   613843   
Gene and transcription
Genbank (Entrez)AB593123 AB593124 BC032714 BC065261 CN355966
RefSeq transcript (Entrez)NM_001289395 NM_003322
Consensus coding sequences : CCDS (NCBI)TULP1
Gene ExpressionTULP1 [ NCBI-GEO ]   TULP1 [ EBI - ARRAY_EXPRESS ]   TULP1 [ SEEK ]   TULP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TULP1 [ Firebrowse - Broad ]
GenevisibleExpression of TULP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7287
GTEX Portal (Tissue expression)TULP1
Human Protein AtlasENSG00000112041-TULP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00294   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00294  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00294
PhosPhoSitePlusO00294
Domaine pattern : Prosite (Expaxy)TUB_1 (PS01200)    TUB_2 (PS01201)   
Domains : Interpro (EBI)Tubby-like_C    Tubby_C    Tubby_C_CS   
Domain families : Pfam (Sanger)Tub (PF01167)   
Domain families : Pfam (NCBI)pfam01167   
Conserved Domain (NCBI)TULP1
PDB (RSDB)2FIM    3C5N   
PDB Europe2FIM    3C5N   
PDB (PDBSum)2FIM    3C5N   
PDB (IMB)2FIM    3C5N   
Structural Biology KnowledgeBase2FIM    3C5N   
SCOP (Structural Classification of Proteins)2FIM    3C5N   
CATH (Classification of proteins structures)2FIM    3C5N   
SuperfamilyO00294
AlphaFold pdb e-kbO00294   
Human Protein Atlas [tissue]ENSG00000112041-TULP1 [tissue]
HPRD03788
Protein Interaction databases
DIP (DOE-UCLA)O00294
IntAct (EBI)O00294
BioGRIDTULP1
STRING (EMBL)TULP1
ZODIACTULP1
Ontologies - Pathways
QuickGOO00294
Ontology : AmiGOphotoreceptor outer segment  retina homeostasis  photoreceptor inner segment  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular region  cytosol  plasma membrane  cilium  phagocytosis, recognition  visual perception  dendrite development  eye photoreceptor cell development  cell projection  axon terminus  synapse  photoreceptor cell maintenance  positive regulation of phagocytosis  detection of light stimulus involved in visual perception  actin filament binding  actin filament binding  retina development in camera-type eye  protein localization to cilium  protein localization to photoreceptor outer segment  
Ontology : EGO-EBIphotoreceptor outer segment  retina homeostasis  photoreceptor inner segment  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular region  cytosol  plasma membrane  cilium  phagocytosis, recognition  visual perception  dendrite development  eye photoreceptor cell development  cell projection  axon terminus  synapse  photoreceptor cell maintenance  positive regulation of phagocytosis  detection of light stimulus involved in visual perception  actin filament binding  actin filament binding  retina development in camera-type eye  protein localization to cilium  protein localization to photoreceptor outer segment  
NDEx NetworkTULP1
Atlas of Cancer Signalling NetworkTULP1
Wikipedia pathwaysTULP1
Orthology - Evolution
OrthoDB7287
GeneTree (enSembl)ENSG00000112041
Phylogenetic Trees/Animal Genes : TreeFamTULP1
Homologs : HomoloGeneTULP1
Homology/Alignments : Family Browser (UCSC)TULP1
Gene fusions - Rearrangements
Fusion : QuiverTULP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTULP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TULP1
dbVarTULP1
ClinVarTULP1
MonarchTULP1
1000_GenomesTULP1 
Exome Variant ServerTULP1
GNOMAD BrowserENSG00000112041
Varsome BrowserTULP1
ACMGTULP1 variants
VarityO00294
Genomic Variants (DGV)TULP1 [DGVbeta]
DECIPHERTULP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTULP1 
Mutations
ICGC Data PortalTULP1 
TCGA Data PortalTULP1 
Broad Tumor PortalTULP1
OASIS PortalTULP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTULP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTULP1
Mutations and Diseases : HGMDTULP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTULP1
DgiDB (Drug Gene Interaction Database)TULP1
DoCM (Curated mutations)TULP1
CIViC (Clinical Interpretations of Variants in Cancer)TULP1
Cancer3DTULP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600132    602280    613843   
Orphanet659    3243   
DisGeNETTULP1
MedgenTULP1
Genetic Testing Registry TULP1
NextProtO00294 [Medical]
GENETestsTULP1
Target ValidationTULP1
Huge Navigator TULP1 [HugePedia]
ClinGenTULP1
Clinical trials, drugs, therapy
MyCancerGenomeTULP1
Protein Interactions : CTDTULP1
Pharm GKB GenePA37085
PharosO00294
Clinical trialTULP1
Miscellaneous
canSAR (ICR)TULP1
HarmonizomeTULP1
DataMed IndexTULP1
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTULP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:27:35 CEST 2021

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