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transmembrane O-mannosyltransferase targeting cadherins 3

Summary

Gene Symbol

TMTC3

Aliases

FLJ90492
SMILE

Organism

Homo sapiens (human)

External Links

NCBI Gene

160418

HGNC

26899

KEGG Gene ID

hsa:160418

PubChem

160418

Alliance of Genome Resources

HGNC:26899

Annotation

Keyword

Alternative splicing
Disease variant
Endoplasmic reticulum
Glycoprotein
Lissencephaly
Phosphoprotein
Reference proteome
Repeat
TPR repeat
Transferase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A8K321
Q6ZXV5	Protein SMILE Transmembrane O-mannosyltransferase targeting cadherins 3 Transmembrane and tetratricopeptide repeat-containing 3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
response to endoplasmic reticulum stress	IMP	21603654
positive regulation of proteasomal protein catabolic process	IMP	21603654
protein O-linked mannosylation	IBA IMP	28973932

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

cellular process [inference]

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of catabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of nitrogen compound metabolic process [inference]

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

positive regulation of proteolysis [inference]

positive regulation of proteolysis involved in protein catabolic process [inference]

positive regulation of proteasomal protein catabolic process

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IBA IDA	21603654
membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
dolichyl-phosphate-mannose-protein mannosyltransferase activity	IMP	28973932
mannosyltransferase activity	IBA
protein binding	IPI	25416956

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity

dolichyl-phosphate-mannose-protein mannosyltransferase activity

catalytic activity, acting on a protein [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000139324

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K23424

Name

protein O-mannosyl-transferase [EC:2.4.1.-]

References

28973932

Disease

Disease Ontology

Displaying entries **1 - 10** of 54 in total

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DO ID	Disease Name	Source
DOID:57	aortic valve insufficiency	DisGeNET
DOID:5723	optic atrophy	DisGeNET
DOID:0050453	lissencephaly	DisGeNET DisGeNET DisGeNET
DOID:0050454	periventricular nodular heterotopia	DisGeNET
DOID:0050590	severe congenital neutropenia	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET DisGeNET DisGeNET
DOID:0060058	lymphoma	DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET DisGeNET DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET DisGeNET DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 44 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000518	Cataract
HP:0000568	Microphthalmia
HP:0000648	Optic atrophy
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000963	Thin skin
HP:0001249	Intellectual disability
HP:0001250	Seizure

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:617255	lissencephaly 8
ORPHA:98892	periventricular nodular heterotopia

PubChem Disease

MedGen Diseases

Lissencephaly 8

OMIM Phenotypes

LISSENCEPHALY 8; LIS8

KEGG Diseases

Lissencephaly

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 99 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	37401	FB:FBgn0020312
Callorhinchus milii	103179847		CALMI18864
Danio rerio	100150181	ZFIN:ZDB-GENE-061221-2	DANRE27289
Ictalurus punctatus	108269239		ICTPU34471
Electrophorus electricus	113583355		ELEEL32039
Esox lucius	105018307		ESOLU56325
Salmo trutta	115197563		SALTR14032
Gadus morhua	115550491		GADMO60218
Oryzias latipes	101175547		ORYLA20349
Oreochromis niloticus	100695667		ORENI65281

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements