Version 5.4
Homo sapiens Gene: TULP1
Summary
InnateDB Gene IDBG-84185.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TULP1
Gene Name tubby like protein 1
Synonyms LCA15; RP14; TUBL1
Species Homo sapiens
Ensembl Gene ENSG00000112041
Encoded Proteins
IDBP-84189
tubby like protein 1
IDBP-84191
tubby like protein 1
IDBP-376534
tubby like protein 1
IDBP-807157
tubby like protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 retinitis pigmentosa. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:35497874-35512938
Strand Reverse strand
Band p21.31
Transcripts
ENST00000373892
ENST00000322263 ENSP00000319414
ENST00000229771 ENSP00000229771
ENST00000448446
ENST00000428978 ENSP00000406765
ENST00000495781
ENST00000496434
ENST00000614066 ENSP00000477534
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008020 G-protein coupled photoreceptor activity
GO:0051015 actin filament binding
Biological Process
GO:0001895 retina homeostasis
GO:0006909 phagocytosis
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0009584 detection of visible light
GO:0016358 dendrite development
GO:0042462 eye photoreceptor cell development
GO:0045494 photoreceptor cell maintenance
GO:0050766 positive regulation of phagocytosis
GO:0050908 detection of light stimulus involved in visual perception
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0042995 cell projection
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037446
View Gene Order
ENSBTAG00000034287
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.485208
RefSeq NM_001289395 NM_003322
HUGO
OMIM
CCDS CCDS4807 CCDS75436
HPRD 03788
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca