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TMTC1 (Transmembrane O-Mannosyltransferase Targeting Cadherins 1) is a Protein Coding gene. Diseases associated with TMTC1 include Schizophrenia 19 and Type 1 Diabetes Mellitus 3. An important paralog of this gene is TMTC2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J029781 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 279.5 | +1.7 | 1658 | 4.2 | ZBTB10 FEZF1 ZIC2 CEBPB SIN3A EP300 REST ZNF341 RAD21 ZNF843 | TMTC1 HSALNG0090111 piR-43105-108 OVCH1 | |
GH12J029768 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 29.2 | +15.9 | 15859 | 1.8 | CEBPB EP300 MAFK IKZF1 NR2F1 HNF4A NFE2L2 IKZF2 MTA2 DPF2 | TMTC1 HSALNG0090111 piR-43105-108 OVCH1 | |
GH12J029771 | Enhancer | 0.6 | Ensembl ENCODE dbSUPER | 29.7 | +12.8 | 12758 | 1.2 | ZNF664 | TMTC1 HSALNG0090111 piR-43105-108 OVCH1 | |
GH12J029732 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 15.5 | +51.9 | 51859 | 1.4 | NFE2 IKZF1 GATA2 NFIB OSR2 NFE2L2 CEBPB ZFHX2 NFIC | TMTC1 piR-43105-108 HSALNG0090111 OVCH1 | |
GH12J029794 | Enhancer | 1 | Ensembl ENCODE | 12.4 | -11.4 | -11441 | 4.4 | FEZF1 CEBPB ZNF513 CUX1 EP300 RAD21 RFX5 ZNF843 STAT3 TCF7L2 | TMTC1 piR-30302 piR-57176-123 IPO8 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000030 | mannosyltransferase activity | IMP | 28973932 |
GO:0004169 | dolichyl-phosphate-mannose-protein mannosyltransferase activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006396 | RNA processing | IEA | -- |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0035269 | protein O-linked mannosylation | IMP | 28973932 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMTC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMTC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMTC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tmtc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmtc1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | TMTC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMTC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMTC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmtc1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC555449 30 |
|
||
tmtc1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112130088 | Benign: not provided | 29,583,398(-) |
T/C NM_001193451.2(TMTC1):c.1418+9A>G |
INTRON | |
rs148777499 | Benign: not provided | 29,604,282(-) |
C/T NM_001193451.2(TMTC1):c.1146G>A (p.Glu382=) |
SYNONYMOUS | |
rs16934884 | Benign: not provided | 29,768,012(-) |
G/A NM_001193451.2(TMTC1):c.366C>T (p.His122=) |
SYNONYMOUS | |
rs17854190 | - |
p.Val814Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizophrenia 19 |
|
|
type 1 diabetes mellitus 3 |
|
|
epilepsy, familial temporal lobe, 8 |
|
|
steroid-induced glaucoma |
|
|
spinocerebellar ataxia 45 |
|
|