• Gene id: 202018

Gene Summary

• Gene Symbol: TAPT1   Gene   UCSC   Ensembl
• Aliases: CMVFR, OCLSBG
• Gene name: transmembrane anterior posterior transformation 1
• Alternate names: transmembrane anterior posterior transformation protein 1 homolog, cytomegalovirus partial fusion receptor,
• Gene location: 4p15.32 (16226476: 16160504)     Exons: 13     NC_000004.12
• Gene summary(Entrez): This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by
• OMIM: 612758

Protein Summary

• Protein general information: Q6NXT6  
  • Name: Transmembrane anterior posterior transformation protein 1 homolog (Cytomegalovirus partial fusion receptor)
  • Length: 567  
  • Mass: 64260
• Sequence:

  MAGVGDAAAPGEGGGGGVDGPQRDGRGEAEQPGGSGGQGPPPAPQLTETLGFYESDRRRERRRGRTELSLLRFLS
  AELTRGYFLEHNEAKYTERRERVYTCLRIPRELEKLMVFGIFLCLDAFLYVFTLLPLRVFLALFRLLTLPCYGLR
  DRRLLQPAQVCDILKGVILVICYFMMHYVDYSMMYHLIRGQSVIKLYIIYNMLEVADRLFSSFGQDILDALYWTA
  TEPKERKRAHIGVIPHFFMAVLYVFLHAILIMVQATTLNVAFNSHNKSLLTIMMSNNFVEIKGSVFKKFEKNNLF
  QMSNSDIKERFTNYVLLLIVCLRNMEQFSWNPDHLWVLFPDVCMVIASEIAVDIVKHAFITKFNDITADVYSEYR
  ASLAFDLVSSRQKNAYTDYSDSVARRMGFIPLPLAVLLIRVVTSSIKVQGILSYACVILFYFGLISLKVLNSIVL
  LGKSCQYVKEAKMEEKLSNPPATCTPGKPSSKSQNKCKPSQGLSTEENLSASITKQPIHQKENIIPLLVTSNSDQ
  FLTTPDGDEKDITQDNSELKHRSSKKDLLEIDRFTICGNRID

• Structural information:
  • Interpro: IPR008010  
  • STRING: ENSP00000385347
• Other Databases: GeneCards:  TAPT1  Malacards:  TAPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0035437	maintenance of protein localization in endoplasmic reticulum	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0045724	positive regulation of cilium assembly	IBA	biological process
GO:0045724	positive regulation of cilium assembly	IDA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0016520	growth hormone-releasing hormone receptor activity	TAS	molecular function
GO:0061036	positive regulation of cartilage development	ISS	biological process
GO:0014032	neural crest cell development	ISS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:1903012	positive regulation of bone development	ISS	biological process
GO:0001503	ossification	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Complex lethal osteochondrodysplasia	KEGG:H02280
Complex lethal osteochondrodysplasia	KEGG:H02280
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray