Gene Gene information from NCBI Gene database.
Entrez ID 83857
Gene name Transmembrane O-mannosyltransferase targeting cadherins 1
Gene symbol TMTC1
Synonyms (NCBI Gene)
ARG99OLFTMTC1A
Chromosome 12
Chromosome location 12p11.22
miRNA miRNA information provided by mirtarbase database.
636
miRTarBase ID miRNA Experiments Reference
MIRT016438 hsa-miR-193b-3p Microarray 20304954
MIRT046239 hsa-miR-27b-3p CLASH 23622248
MIRT044820 hsa-miR-320a CLASH 23622248
MIRT715075 hsa-miR-548aa HITS-CLIP 19536157
MIRT715074 hsa-miR-548ap-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IBA
GO:0004169 Function Dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
GO:0004169 Function Dolichyl-phosphate-mannose-protein mannosyltransferase activity IMP 28973932
GO:0005515 Function Protein binding IPI 32814053
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615855 24099 ENSG00000133687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUR5
Protein name Protein O-mannosyl-transferase TMTC1 (EC 2.4.1.109) (Transmembrane O-mannosyltransferase targeting cadherins 1) (Transmembrane and tetratricopeptide repeat-containing 1)
Protein 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 decorat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08409 DUF1736 302 365 Domain of unknown function (DUF1736) Family
PF13414 TPR_11 490 526 Repeat
PF13432 TPR_16 527 576 Family
PF13432 TPR_16 555 616 Family
PF13424 TPR_12 614 682 Repeat
PF14559 TPR_19 694 761 Domain
PF13181 TPR_8 751 784 Tetratricopeptide repeat Repeat
PF13432 TPR_16 793 857 Family
Sequence
MVVTTSARGGGGDRTPSRRRGCGLAPAGAAALLAGASCLCYGRSLQGEFVHDDVWAIVNN
PDVRPGAPLRWGIFTNDFWGKGMAENTSHKSYRPLCVLTFKLNIFLTGMNPFYFHAVNII
LHCLVTLVLMYTCDKTVFKNRGLAFVTALLFAVHPIHTEAVAGIVGRADVLACLLFLLAF
LSYNRSLDQGCVGGSFPSTVSPFFLLLSLFLGTCAMLVKETGITVFGVCLVYDLFSLSNK
QDKSSNGALCPRSPQQPGSPQPSSLPGHPHRENGKQQRFPHKGAWGGCHSPLPPEPKSSG
FPVSPRAVWSMMRFLTYSYLLAFNVWLLLAPVTLCYDWQVGSIPLVETIWDMRNLATIFL
AVVMA
LLSLHCLAAFKRLEHKEVLVGLLFLVFPFIPASNLFFRVGFVVAERVLYMPSMGY
CILFVHGLSKLCTWLNRCGATTLIVSTVLLLLLFSWKTVKQNEIWLSRESLFRSGVQTLP
HNAKVHYNYANFLKDQGRNKEAIYHYRTALKLYPRHASALNNLGTLTRDTAEAKMYYQRA
LQLHPQHNRALFNL
GNLLKSQEKKEEAITLLKDSIKYGPEFADAYSSLASLLAEQERFKE
AEEIYQTGIKNCPDSSDLHNNYGVFLVDTGLPEKAVAHYQQAIKLSPSHHVAMVNLGRLY
RSLGENSMAEEWYKRALQVAHK
AEILSPLGALYYNTGRYEEALQIYQEAAALQPSQRELR
LALAQVLAVMGQTKEAEKMTNHIVSEETGC
LECYRLLSAIYSKQENHDKALDAIDKALQL
KPKD
PKVISELFFTKGNQLREQNLLDKAFESYRVAVQLNPDQAQAWMNMGGIQHIKGKYV
SARAYYERALQLVPDSK
LLKENLAKLDRLEKRLQEVREKDQT
Sequence length 882
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMENORRHEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 17166517 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 12782961, 16094257, 9861642
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Bone Marrow Diseases BEFREE 31415461
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 31371054
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 40435780 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37563198 Associate
★☆☆☆☆
Found in Text Mining only
Dystonic Disorders Dystonia Pubtator 23449625 Associate
★☆☆☆☆
Found in Text Mining only