Gene Gene information from NCBI Gene database.
Entrez ID 7267
Gene name Tetratricopeptide repeat domain 3
Gene symbol TTC3
Synonyms (NCBI Gene)
DCRR1RNF105TPRDIII
Chromosome 21
Chromosome location 21q22.13
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT017693 hsa-miR-335-5p Microarray 18185580
MIRT038304 hsa-miR-130b-5p CLASH 23622248
MIRT036893 hsa-miR-877-3p CLASH 23622248
MIRT155576 hsa-miR-27a-3p HITS-CLIP 22473208
MIRT155580 hsa-miR-27b-3p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 20059950
GO:0005515 Function Protein binding IPI 20059950, 30696809
GO:0005634 Component Nucleus IDA 20059950
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602259 12393 ENSG00000182670
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53804
Protein name E3 ubiquitin-protein ligase TTC3 (EC 2.3.2.27) (Protein DCRR1) (RING finger protein 105) (RING-type E3 ubiquitin transferase TTC3) (TPR repeat protein D) (Tetratricopeptide repeat protein 3) (TPR repeat protein 3)
Protein function E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:20059950, PubMed:30696809). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus (Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19179 DUF5861 622 737 Family of unknown function (DUF5861) Family
PF13639 zf-RING_2 1955 1997 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in all tissues examined.
Sequence
MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSER
NLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEI
NLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTI
LTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNE
EFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPK
GHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANK
DPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVD
DCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAH
QDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVY
GLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFE
KARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYS
KIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEG
VISKIIIFSSGGEVKCE
FEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEA
KKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAM
LLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVE
PKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYF
SEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVK
NKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEF
EALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPE
ETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEY
VRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDN
SSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTY
LPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKN
AAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGN
SNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQ
VLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQ
QEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIE
EYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAY
PDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTV
HPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPE
ATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNS
TELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPV
TRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHK
GCFKQWLKGQSACPACQ
GRDLLTEESPSGRGWPSQNQELPSCSSR
Sequence length 2025
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Corticobasal syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Lung cancer Benign ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 33626494 Associate
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 31836585 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 15635070 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 15635070
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 10781955, 16396494, 23554291, 25118625, 28717645, 8724848, 8947847, 9603993
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 20059950, 28717645 Associate
★☆☆☆☆
Found in Text Mining only
Familial Alzheimer Disease (FAD) Alzheimer disease BEFREE 30203323
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial Infarction BEFREE 30876857
★☆☆☆☆
Found in Text Mining only