• Gene id: 220074

Gene Summary

• Gene Symbol: LRTOMT   Gene   UCSC   Ensembl
• Aliases: CFAP111, DFNB63, LRRC51
• Gene name: leucine rich transmembrane and O-methyltransferase domain containing
• Alternate names: transmembrane O-methyltransferase, leucine-rich repeat-containing protein 51, leucine rich transmembrane and 0-methyltransferase domain containing,
• Gene location: 11q13.4 (72080341: 72110781)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT
• OMIM: 612414

Protein Summary

• Protein general information: Q8WZ04  
  • Name: Transmembrane O methyltransferase (EC 2.1.1.6) (Catechol O methyltransferase 2) (Protein LRTOMT2)
  • Length: 291  
  • Mass: 32155
• Sequence:

  MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSG
  LRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIA
  RALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDL
  QLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG

• Structural information:
  • Interpro: IPR029063  IPR002935  IPR033025  
  • Prosite: PS51682
  • STRING: ENSP00000305742
• Other Databases: GeneCards:  LRTOMT  Malacards:  LRTOMT
• Protein general information: Q96E66  
  
  Name: Leucine rich repeat containing protein 51 (Protein LRTOMT1)
  
  Length: 192  Mass: 22206
• Sequence: MNKRDYMNTSVQEPPLDYSFRSIHVIQDLVNEEPRTGLRPLKRSKSGKSLTQSLWLNNNVLNDLRDFNQVASQLL
  EHPENLAWIDLSFNDLTSIDPVLTTFFNLSVLYLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYRQYVL
  CTLSRITTFDFSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL
• Structural information:

  Protein Domains	(137..17-) (/note="LRRCT"-)
  Interpro:	IPR001611  IPR032675
  Prosite:	PS51450

• Other Databases: GeneCards:  LRTOMT  Malacards:  LRTOMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042424	catecholamine catabolic process	IBA	biological process
GO:0042417	dopamine metabolic process	IBA	biological process
GO:0032502	developmental process	IBA	biological process
GO:0016206	catechol O-methyltransferase activity	IBA	molecular function
GO:0008171	O-methyltransferase activity	IBA	molecular function
GO:0016206	catechol O-methyltransferase activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008171	O-methyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0006584	catecholamine metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016206	catechol O-methyltransferase activity	IEA	molecular function
GO:0102084	L-dopa O-methyltransferase activity	IEA	molecular function
GO:0102938	orcinol O-methyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0016206	catechol O-methyltransferase activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	ISS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0016206	catechol O-methyltransferase activity	ISS	molecular function
GO:0060117	auditory receptor cell development	ISS	biological process
GO:0042424	catecholamine catabolic process	ISS	biological process
GO:0016206	catechol O-methyltransferase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04728	Dopaminergic synapse
hsa00140	Steroid hormone biosynthesis
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R