TRIM71 (tripartite motif containing 71)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 131405
Gene name Tripartite motif containing 71
Gene symbol TRIM71
Synonyms (NCBI Gene)
HYC4HYDCC1LIN-41LIN41
Chromosome 3
Chromosome location 3p22.3
Summary The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1045177462 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1575362216 G>A Pathogenic Missense variant, coding sequence variant
rs1575362239 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1575362492 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
253
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (253)
miRTarBase ID miRNA Experiments Reference
MIRT002077 hsa-let-7a-5p Luciferase reporter assay 17890240
MIRT002077 hsa-let-7a-5p Luciferase reporter assay 17890240
MIRT002076 hsa-let-7c-5p Luciferase reporter assay 17890240
MIRT002076 hsa-let-7c-5p Luciferase reporter assay 17890240
MIRT002077 hsa-let-7a-5p Luciferase reporter assay 18829576
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (44)
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle ISS
GO:0000209 Process Protein polyubiquitination IBA
GO:0000932 Component P-body IDA 23125361
GO:0000932 Component P-body IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618570 32669 ENSG00000206557
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2Q1W2
Protein name E3 ubiquitin-protein ligase TRIM71 (EC 2.3.2.27) (Protein lin-41 homolog) (RING-type E3 ubiquitin transferase TRIM71) (Tripartite motif-containing protein 71)
Protein function E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repress
PDB 7QRX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00643 zf-B_box 273 → 314 B-box zinc finger Domain
PF00630 Filamin 482 → 577 Filamin/ABP280 repeat Domain
PF01436 NHL 606 → 633 NHL repeat Repeat
PF01436 NHL 653 → 680 NHL repeat Repeat
PF01436 NHL 700 → 727 NHL repeat Repeat
PF01436 NHL 747 → 774 NHL repeat Repeat
PF01436 NHL 794 → 821 NHL repeat Repeat
PF01436 NHL 841 → 868 NHL repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in testis. {ECO:0000269|PubMed:15722555}.
Sequence 
MASFPETDFQICLLCKEMCGSPAPLSSNSSASSSSSQTSTSSGGGGGGPGAAARRLHVLP
CLHAFCRPCLEAHRLPAAGGGAAGEPLKLRCPVCDQKVVLAEAAGMDALPSSAFLLSNLL
DAVVATADEPPPKNGRAGAPAGAGGHSNHRHHAHHAHPRASASAPPLPQAPQPPAPSRSA
PGGPAASPSALLLRRPHGCSSCDEGNAASSRCLDCQEHLCDNCVRAHQRVRLTKDHYIER
GPPGPGAAAAAQQLGLGPPFPGPPFSILSVFPERLGFCQHHDDEVLHLYCDTCSVPICRE
CTMGRHGGHSFIYLQEALQDSRALTIQLLADAQQGRQAIQLSIEQAQTVAEQVEMKAKVV
QSEVKAVTARHKKALEERECELLWKVEKIRQVKAKSLYLQVEKLRQNLNKLESTISAVQQ
VLEEGRALDILLARDRMLAQVQELKTVRSLLQPQEDDRVMFTPPDQALYLAIKSFGFVSS
GAFAPLTKATGDGLKRALQGKVASFTVIGYDHDGEPRLSGGDLMSAVVLGPDGNLFGAEV
SDQQNGTYVVSYRPQLEGEHLVSVTLCNQHIENSPFKVVVKSGRSYVGIGLPGLSFGSEG
DSDGKLCRPWGVSVDKEGYIIVADRSNNRIQVFKPCGAFHHKFGTLGSRPGQFDRPAGVA
CDASRRIVVADKDNHRIQIFTFEGQFLLKFGEKGTKNGQFNYPWDVAVNSEGKILVSDTR
NHRIQLFGPDGVFLNKYGFEGALWKHFDSPRGVAFNHEGHLVVTDFNNHRLLVIHPDCQS
ARFLGSEGTGNGQFLRPQGVAVDQEGRIIVADSRNHRVQMFESNGSFLCKFGAQGSGFGQ
MDRPSGIAITPDGMIVVVDFGNNRILVF
Sequence length 868
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  MicroRNAs in cancer   Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital hydrocephalus Likely pathogenic rs1575362239 RCV000845205
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, congenital communicating, 1 Pathogenic rs1575362216, rs1575362492 RCV000856614
RCV000856615
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia Likely pathogenic rs1696081301 RCV001290746
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIM71-related disorder Likely pathogenic rs2471021164 RCV003899304
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL COMMUNICATING HYDROCEPHALUS — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRYPTOSPERMIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 31732746 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31732746, 36244648 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital communicating hydrocephalus Congenital Communicating Hydrocephalus Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Hydrocephalus Congenital Hydrocephalus BEFREE 30975633, 31371437
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities Development Disorder BEFREE 27534418
★★★★★
★☆☆☆☆
Found in Text Mining only
Hydrocephalus Hydrocephalus Pubtator 29983323, 32816599, 40603987 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute Myeloid leukemia Pubtator 25996682 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liposarcoma Myxoid Liposarcoma Pubtator 25115389 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 23097274, 31732746
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 25996682, 27821801
★★★★★
★☆☆☆☆
Found in Text Mining only