• Gene id: 7287

Gene Summary

• Gene Symbol: TULP1   Gene   UCSC   Ensembl
• Aliases: LCA15, RP14, TUBL1
• Gene name: TUB like protein 1
• Alternate names: tubby-related protein 1, tubby like protein 1,
• Gene location: 6p21.31 (1891116: 1785284)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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 protei
• OMIM: 602280

Protein Summary

• Protein general information: O00294  
  • Name: Tubby related protein 1 (Tubby like protein 1)
  • Length: 542  
  • Mass: 60609
  • Tissue specificity: Retina-specific.
• Sequence:

  MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRPREEPS
  PDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKILLPPKKPLREK
  SSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARKSPAAMFL
  VGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEERAPSPPVEVDEPREFVLRPAP
  QGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANYLISIDPTNLSRGGENFIGKLRSNLL
  GNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRRMTVIIPGMSAENERVPIRPRNASDGLLVRW
  QNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKNFQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCAL
  QAFAIALSSFDGKLACE

• Structural information:
  • Interpro: IPR025659  IPR000007  IPR018066  
  • Prosite: PS01200 PS01201
  • PDB: 2FIM 3C5N
  • PDBsum: 2FIM 3C5N
  • STRING: ENSP00000229771
• Other Databases: GeneCards:  TULP1  Malacards:  TULP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006910	phagocytosis, recognition	IEA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:1903546	protein localization to photoreceptor outer segment	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0043679	axon terminus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050766	positive regulation of phagocytosis	IDA	biological process
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process
GO:0001895	retina homeostasis	IMP	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0061512	protein localization to cilium	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0045202	synapse	ISS	cellular component
GO:0042462	eye photoreceptor cell development	ISS	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0016358	dendrite development	ISS	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	PMID:9462750
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray