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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs139974018 RCV005931031
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 17166517
Cleft Palate Associate 40435780
Developmental Disabilities Associate 37563198
Dystonic Disorders Associate 23449625
Inflammation Associate 32572876
Kallmann Syndrome Associate 37563198
Neoplasm Metastasis Stimulate 37221403
Obesity Abdominal Associate 21791083
Obesity Morbid Associate 31852448
Ovarian Neoplasms Associate 37221403