• Gene id: 83857

Gene Summary

• Gene Symbol: TMTC1   Gene   UCSC   Ensembl
• Aliases: ARG99, OLF, TMTC1A
• Gene name: transmembrane O-mannosyltransferase targeting cadherins 1
• Alternate names: protein O-mannosyl-transferase TMTC1, transmembrane and tetratricopeptide repeat containing 1, transmembrane and tetratricopeptide repeat containing 1A,
• Gene location: 12p11.22 (29784758: 29500812)     Exons: 57     NC_000012.12
• OMIM: 615855

Protein Summary

• Protein general information: Q8IUR5  
  • Name: Protein O mannosyl transferase TMTC1 (EC 2.4.1.109) (Transmembrane and TPR repeat containing protein 1)
  • Length: 882  
  • Mass: 98847
• Sequence:

  MVVTTSARGGGGDRTPSRRRGCGLAPAGAAALLAGASCLCYGRSLQGEFVHDDVWAIVNNPDVRPGAPLRWGIFT
  NDFWGKGMAENTSHKSYRPLCVLTFKLNIFLTGMNPFYFHAVNIILHCLVTLVLMYTCDKTVFKNRGLAFVTALL
  FAVHPIHTEAVAGIVGRADVLACLLFLLAFLSYNRSLDQGCVGGSFPSTVSPFFLLLSLFLGTCAMLVKETGITV
  FGVCLVYDLFSLSNKQDKSSNGALCPRSPQQPGSPQPSSLPGHPHRENGKQQRFPHKGAWGGCHSPLPPEPKSSG
  FPVSPRAVWSMMRFLTYSYLLAFNVWLLLAPVTLCYDWQVGSIPLVETIWDMRNLATIFLAVVMALLSLHCLAAF
  KRLEHKEVLVGLLFLVFPFIPASNLFFRVGFVVAERVLYMPSMGYCILFVHGLSKLCTWLNRCGATTLIVSTVLL
  LLLFSWKTVKQNEIWLSRESLFRSGVQTLPHNAKVHYNYANFLKDQGRNKEAIYHYRTALKLYPRHASALNNLGT
  LTRDTAEAKMYYQRALQLHPQHNRALFNLGNLLKSQEKKEEAITLLKDSIKYGPEFADAYSSLASLLAEQERFKE
  AEEIYQTGIKNCPDSSDLHNNYGVFLVDTGLPEKAVAHYQQAIKLSPSHHVAMVNLGRLYRSLGENSMAEEWYKR
  ALQVAHKAEILSPLGALYYNTGRYEEALQIYQEAAALQPSQRELRLALAQVLAVMGQTKEAEKMTNHIVSEETGC
  LECYRLLSAIYSKQENHDKALDAIDKALQLKPKDPKVISELFFTKGNQLREQNLLDKAFESYRVAVQLNPDQAQA
  WMNMGGIQHIKGKYVSARAYYERALQLVPDSKLLKENLAKLDRLEKRLQEVREKDQT

• Structural information:
  • Interpro: IPR013618  IPR003107  IPR013026  IPR011990  IPR013105   IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000442046
• Other Databases: GeneCards:  TMTC1  Malacards:  TMTC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IMP	molecular function
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray