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Aliases for TMTC1 Gene
Aliases for TMTC1 Gene
External Ids for TMTC1 Gene
- HGNC: 24099
- Entrez Gene: 83857
- Ensembl: ENSG00000133687
- OMIM: 615855
- UniProtKB: Q8IUR5
Previous GeneCards Identifiers for TMTC1 Gene
- GC12M029551
- GC12M029547
- GC12M029548
- GC12M029549
- GC12M029653
- GC12M029422
Summaries for TMTC1 Gene
GeneCards Summary for TMTC1 Gene
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.
UniProtKB/Swiss-Prot Summary for TMTC1 Gene
-
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
Additional gene information for TMTC1 Gene
- HGNC(24099)
- Entrez Gene(83857)
- Ensembl(ENSG00000133687)
- OMIM(615855)
- UniProtKB(Q8IUR5)
- Open Targets Platform(ENSG00000133687)
- Monarch Initiative
- Search for TMTC1 at DataMed
- Search for TMTC1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMTC1 Gene
Genomics for TMTC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TMTC1 Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMTC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMTC1
- Top Transcription factor binding sites by QIAGEN in the TMTC1 gene promoter:
-
- aMEF-2
- CUTL1
- FOXI1
- HFH-3
- MEF-2A
- Nkx6-1
- PPAR-alpha
- Roaz
- SEF-1 (1)
- Sp1
Genomic Locations for TMTC1 Gene
Genomic Locations for TMTC1 Gene
- chr12:29,500,813-29,784,759
- (GRCh38/hg38)
- Size:
- 283,947 bases
- Orientation:
- Minus strand
- chr12:29,653,746-29,937,692
- (GRCh37/hg19)
- Size:
- 283,947 bases
- Orientation:
- Minus strand
Genomic View for TMTC1 Gene
Genes around TMTC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p11.22 by HGNC
- 12p11.22 by Entrez Gene
- 12p11.22 by Ensembl
TMTC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TMTC1 Gene
Proteins for TMTC1 Gene
-
Protein details for TMTC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IUR5-TMTC1_HUMAN
- Recommended name:
- Protein O-mannosyl-transferase TMTC1
- Protein Accession:
- Q8IUR5
- D0EP37
- F5H8B5
- Q6PIU4
- Q6ZSM5
- Q96N52
- Q9BXM2
Protein attributes for TMTC1 Gene
- Size:
- 882 amino acids
- Molecular mass:
- 98847 Da
- Quaternary structure:
-
- May interact with FAM168B.
- SequenceCaution:
-
- Sequence=AAK32121.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TMTC1 Gene
Post-translational modifications for TMTC1 Gene
Other Protein References for TMTC1 Gene
Antibody Products
- Novus Biologicals Antibodies for TMTC1
- Invitrogen Antibodies for TMTC1 (AFLGC-Tmtc1)
- antibodies-online: Show 4 available TMTC1 Antibodies ranked by validation data
Protein Products
-
OriGene Purified Proteins for TMTC1
- Search Origene for MassSpec and Protein Over-expression Lysates for TMTC1
- Origene Custom Protein Services for TMTC1
-
Abcam proteins for TMTC1
Assay Products
-
Signalway ELISA kits for TMTC1
No data available for DME Specific Peptides for TMTC1 Gene
Domains & Families for TMTC1 Gene
Gene Families for TMTC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for TMTC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMTC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Osteoligament factor (Q5K675_HUMAN)
- Transmembrane and TPR repeat-containing protein 1 (TMTC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IUR5- Family:
-
- Belongs to the TMTC family.
Function for TMTC1 Gene
Molecular function for TMTC1 Gene
- UniProtKB/Swiss-Prot Function:
- Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:17377, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:13546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137321; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:53396, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:13547, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137323; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.
Enzyme Numbers (IUBMB) for TMTC1 Gene
Phenotypes From GWAS Catalog for TMTC1 Gene
| 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 | -- |
Phenotypes for TMTC1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMTC1 - Select products 50% OFF >
- * TMTC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMTC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMTC1
miRNA for TMTC1 Gene
- miRTarBase miRNAs that target TMTC1
-
- mmu-miR-758-3p (MIRT007561)
- mmu-miR-362-5p (MIRT008825)
- mmu-miR-149-5p (MIRT014492)
- hsa-miR-193b-3p (MIRT016438)
- hsa-miR-320a (MIRT044820)
- hsa-miR-27b-3p (MIRT046239)
- hsa-miR-3157-5p (MIRT064121)
- hsa-miR-1238-3p (MIRT491109)
- hsa-miR-6749-3p (MIRT491110)
- hsa-miR-670-3p (MIRT491111)
- hsa-miR-6792-3p (MIRT491112)
- hsa-miR-4691-5p (MIRT491113)
- hsa-miR-627-3p (MIRT491114)
- hsa-miR-5695 (MIRT491115)
- hsa-miR-4666a-3p (MIRT491116)
- hsa-miR-7849-3p (MIRT491117)
- hsa-miR-3910 (MIRT491118)
- hsa-miR-374b-5p (MIRT532075)
- hsa-miR-374a-5p (MIRT532076)
- hsa-miR-655-3p (MIRT532077)
- hsa-miR-374c-5p (MIRT532078)
- hsa-miR-5692c (MIRT532079)
- hsa-miR-5692b (MIRT532080)
- hsa-miR-369-3p (MIRT532081)
- hsa-miR-335-3p (MIRT614575)
- hsa-miR-1305 (MIRT614576)
- hsa-miR-607 (MIRT614577)
- hsa-miR-3613-3p (MIRT614578)
- hsa-miR-561-3p (MIRT614579)
- hsa-miR-548x-5p (MIRT616028)
- hsa-miR-548g-5p (MIRT616029)
- hsa-miR-548f-5p (MIRT616030)
- hsa-miR-548aj-5p (MIRT616031)
- hsa-miR-548p (MIRT616032)
- hsa-miR-887-5p (MIRT665709)
- hsa-miR-6780a-5p (MIRT665710)
- hsa-miR-6779-5p (MIRT665711)
- hsa-miR-3689c (MIRT665712)
- hsa-miR-3689b-3p (MIRT665713)
- hsa-miR-3689a-3p (MIRT665714)
- hsa-miR-30b-3p (MIRT665715)
- hsa-miR-1273h-5p (MIRT665716)
- hsa-miR-6788-5p (MIRT665717)
- hsa-miR-30c-2-3p (MIRT665718)
- hsa-miR-30c-1-3p (MIRT665719)
- hsa-miR-6778-5p (MIRT665720)
- hsa-miR-1233-5p (MIRT665721)
- hsa-miR-6799-5p (MIRT665722)
- hsa-miR-6883-5p (MIRT665723)
- hsa-miR-6785-5p (MIRT665724)
- hsa-miR-4728-5p (MIRT665725)
- hsa-miR-149-3p (MIRT665726)
- hsa-miR-7106-5p (MIRT665727)
- hsa-miR-6894-5p (MIRT665728)
- hsa-miR-7160-5p (MIRT665729)
- hsa-miR-6134 (MIRT665730)
- hsa-miR-7854-3p (MIRT665731)
- hsa-miR-6884-5p (MIRT665732)
- hsa-miR-485-5p (MIRT665733)
- hsa-miR-7162-3p (MIRT665734)
- hsa-miR-5088-3p (MIRT665735)
- hsa-miR-665 (MIRT665736)
- hsa-miR-4691-3p (MIRT665737)
- hsa-miR-6866-3p (MIRT665738)
- hsa-miR-188-5p (MIRT665739)
- hsa-miR-4478 (MIRT665740)
- hsa-miR-4419b (MIRT665741)
- hsa-miR-3929 (MIRT665742)
- hsa-miR-4661-3p (MIRT665743)
- hsa-miR-890 (MIRT665744)
- hsa-miR-4715-3p (MIRT715054)
- hsa-miR-3064-3p (MIRT715055)
- hsa-miR-548aw (MIRT715056)
- hsa-miR-19b-3p (MIRT715057)
- hsa-miR-19a-3p (MIRT715058)
- hsa-miR-1468-3p (MIRT715059)
- hsa-miR-125b-2-3p (MIRT715060)
- hsa-miR-454-3p (MIRT715061)
- hsa-miR-4295 (MIRT715062)
- hsa-miR-3666 (MIRT715063)
- hsa-miR-301b-3p (MIRT715064)
- hsa-miR-301a-3p (MIRT715065)
- hsa-miR-130b-3p (MIRT715066)
- hsa-miR-130a-3p (MIRT715067)
- hsa-miR-519c-3p (MIRT715068)
- hsa-miR-519b-3p (MIRT715069)
- hsa-miR-519a-3p (MIRT715070)
- hsa-miR-6776-3p (MIRT715071)
- hsa-miR-497-3p (MIRT715072)
- hsa-miR-548t-3p (MIRT715073)
- hsa-miR-548ap-3p (MIRT715074)
- hsa-miR-548aa (MIRT715075)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMTC1
- Browse OriGene Inhibitory RNA Products For TMTC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC1
Clone Products
- Applied Biological Materials (abm): Clones for TMTC1 - Select products 50% OFF >
- * TMTC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMTC1
- Addgene plasmids for TMTC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMTC1
Cell Line Products
-
Horizon Cell Lines for TMTC1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMTC1 Gene
Localization for TMTC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TMTC1 Gene
- Membrane. Multi-pass membrane protein. Endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for TMTC1 Gene
UniProtKB/Swiss-Prot Q8IUR5-TMTC1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for TMTC1 Gene
GPS-Prot Interaction Network for TMTC1
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for TMTC1 Gene
Transcripts for TMTC1 Gene
mRNA/cDNA for TMTC1 Gene
- 4 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000256062 8805 nts (view in UCSC)
- ENST00000319685 3254 nts (view in UCSC)
- ENST00000539277 8846 nts (view in UCSC)
- ENST00000546582 464 nts (view in UCSC)
- ENST00000550354 593 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMTC1 - Select products 50% OFF >
- * TMTC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMTC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMTC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMTC1
- Browse OriGene Inhibitory RNA Products For TMTC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC1
Clone Products
- Applied Biological Materials (abm): Clones for TMTC1 - Select products 50% OFF >
- * TMTC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMTC1
- Addgene plasmids for TMTC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMTC1
| 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: | - |
Relevant External Links for TMTC1 Gene
- GeneLoc Exon Structure for
- TMTC1
Expression for TMTC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Mesenchymal Stem Cells (Uncategorized)
- Placenta (Extraembryonic Tissues)
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
-
Kidney (Urinary System)
- Podocytes Podocyte Layer
-
Epithelial Cells
- Podocytes Podocyte Layer
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for TMTC1 Gene
This gene is overexpressed in Artery - Tibial (x4.1).
This gene is overexpressed in Liver (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMTC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMTC1
SOURCE GeneReport for Unigene cluster for TMTC1 Gene:
Hs.401954Evidence on tissue expression from TISSUES for TMTC1 Gene
- Nervous system(4.8)
- Pancreas(4.3)
- Lung(2.6)
- Muscle(2.5)
- Kidney(2.4)
- Heart(2.4)
- Spleen(2.3)
- Skin(2.2)
- Intestine(2.1)
- Eye(2)
- Adrenal gland(2)
Primer Products
-
OriGene qPCR primer pairs for TMTC1
-
OriGene qPCR primer pairs and template standards for TMTC1
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC1 Gene
Orthologs for TMTC1 Gene
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 |
- Species where no ortholog for TMTC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TMTC1 Gene
- ENSEMBL:
- Gene Tree for TMTC1 (if available)
- TreeFam:
- Gene Tree for TMTC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMTC1: view image
Paralogs for TMTC1 Gene
Paralogs for TMTC1 Gene
(3) SIMAP similar genes for TMTC1 Gene using alignment to 4 proteins:
- TMTC1_HUMAN
- F8VTQ9_HUMAN
- F8VXU8_HUMAN
- H0YIB9_HUMAN
Pseudogenes.org Pseudogenes for TMTC1 Gene
Variants for TMTC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMTC1 Gene
| 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 |
Residual Variation Intolerance Score:
53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.07;
80.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TMTC1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TMTC1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC1 Gene
Disorders for TMTC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ossification of the posterior longitudinal ligament of spine |
|
|
| diffuse idiopathic skeletal hyperostosis |
|
|
| spinal cord disease |
|
|
| schizophrenia 19 |
|
|
| steroid-induced glaucoma |
|
|
Search TMTC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TMTC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TMTC1 Gene
Publications for TMTC1 Gene
- Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. (PMID: 28973932) Larsen ISB … Halim A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4
- TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis. (PMID: 24764305) Sunryd JC … Hebert DN (The Journal of biological chemistry 2014) 2 3
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
ExternalLinks
Products for TMTC1 Gene
- Custom Antibody Services
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- VectorBuilder Stable cell line generation for TMTC1
- Addgene plasmids for TMTC1
- antibodies-online: Show 4 available TMTC1 Antibodies ranked by validation data
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- Horizon Cell Lines for TMTC1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC1
- Signalway ELISA kits for TMTC1
Sources for TMTC1 Gene
- (1) GeneCards
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