Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83857
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane O-mannosyltransferase targeting cadherins 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMTC1
Synonyms (NCBI Gene) Gene synonyms aliases
ARG99, OLF, TMTC1A
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.22
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615855 24099 ENSG00000133687
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Associations from Text Mining Disease 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