• Gene id: 7289

Gene Summary

• Gene Symbol: TULP3   Gene   UCSC   Ensembl
• Aliases: TUBL3
• Gene name: TUB like protein 3
• Alternate names: tubby-related protein 3, tubby like protein 3,
• Gene location: 12p13.33 (2890890: 2941137)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a cons
• OMIM: 604730

Protein Summary

• Protein general information: O75386  
  • Name: Tubby related protein 3 (Tubby like protein 3)
  • Length: 442  
  • Mass: 49642
  • Tissue specificity: Expressed at high levels in testis, ovaries, thyroid, and spinal chord. {ECO
• Sequence:

  MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRAKPRASDEQTPLVNCH
  TPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSA
  CLERPNSASSQNSTDTGTSGSATAAQPADNLLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLFPTYYMYL
  EKEENQKIFLLAARKRKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGTKFTVYDRGICPMKGRGLVGAAHTR
  QELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSY
  VLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDSKLACE

• Structural information:
  • Interpro: IPR025659  IPR000007  IPR018066  IPR005398  
  • Prosite: PS01200 PS01201
  • STRING: ENSP00000380321
• Other Databases: GeneCards:  TULP3  Malacards:  TULP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061512	protein localization to cilium	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0120160	intraciliary transport particle A binding	IDA	molecular function
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0045879	negative regulation of smoothened signaling pathway	IDA	biological process
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0097731	9+0 non-motile cilium	IDA	cellular component
GO:0097546	ciliary base	IDA	cellular component
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0001664	G protein-coupled receptor binding	IDA	molecular function
GO:0120160	intraciliary transport particle A binding	IDA	molecular function
GO:0120160	intraciliary transport particle A binding	IDA	molecular function
GO:0061512	protein localization to cilium	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IMP	biological process
GO:0061512	protein localization to cilium	IGI	biological process
GO:0061512	protein localization to cilium	IMP	biological process
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901621	negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0061548	ganglion development	IEA	biological process
GO:0061512	protein localization to cilium	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060434	bronchus morphogenesis	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0021914	negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0001841	neural tube formation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005886	plasma membrane	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray