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TMTC1 (Transmembrane O-Mannosyltransferase Targeting Cadherins 1) is a Protein Coding gene. Diseases associated with TMTC1 include Ossification Of The Posterior Longitudinal Ligament Of Spine and Diffuse Idiopathic Skeletal Hyperostosis. 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 | 629.5 | +1.8 | 1758 | 4 | PRDM10 REST ZNF692 BACH1 LARP7 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 | TMTC1 piR-43105-108 OVCH1 | |
GH12J029768 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 29.2 | +15.9 | 15859 | 1.8 | IKZF2 DPF2 RELB CEBPB GATAD2B FOS EP300 IKZF1 NR2F1 MAFK | TMTC1 piR-43105-108 OVCH1 | |
GH12J029756 | Enhancer | 0.6 | Ensembl dbSUPER | 32.5 | +28.3 | 28345 | 2 | FOXA2 OSR2 GLIS1 MZF1 | TMTC1 piR-43105-108 OVCH1 | |
GH12J029771 | Enhancer | 0.6 | Ensembl ENCODE dbSUPER | 29.7 | +12.7 | 12658 | 1.4 | ZNF664 | TMTC1 piR-43105-108 OVCH1 | |
GH12J029732 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 15.5 | +51.9 | 51858 | 1.4 | CEBPB NFE2 OSR2 NFIC ZFHX2 IKZF1 NFIB NFE2L2 GATA2 | TMTC1 piR-43105-108 OVCH1 |
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 |
---|---|---|---|---|---|
730041 | Benign: not provided | 29,604,282(-) | C/T | SYNONYMOUS_VARIANT | |
782547 | Benign: not provided | 29,768,012(-) | G/A | SYNONYMOUS_VARIANT | |
785397 | Benign: not provided | 29,583,398(-) | T/C | INTRON_VARIANT | |
rs17854190 | - | p.Val814Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
ossification of the posterior longitudinal ligament of spine |
|
|
diffuse idiopathic skeletal hyperostosis |
|
|
spinal cord disease |
|
|
schizophrenia 19 |
|
|
steroid-induced glaucoma |
|
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