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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]
TRIM71 (Tripartite Motif Containing 71) is a Protein Coding gene. Diseases associated with TRIM71 include Hydrocephalus, Congenital Communicating, 1 and Congenital Communicating Hydrocephalus. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and miRNA binding. An important paralog of this gene is TRIM3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IEA,ISS | -- |
GO:0005515 | protein binding | IPI | 23125361 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000932 | P-body | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Mesodermal Commitment Pathway | ||
3 | MicroRNAs in cancer | ||
4 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | IEA,ISS | -- |
GO:0000209 | protein polyubiquitination | IBA | 21873635 |
GO:0001843 | neural tube closure | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0008543 | fibroblast growth factor receptor signaling pathway | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRIM71 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRIM71 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRIM71 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRIM71 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trim71 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Trim71 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRIM71 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRIM71 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRIM71 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486898 30 |
|
||
Str.10679 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | trim71 30 31 |
|
OneToOne | |
sbcb205 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6954 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | wech 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005125 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | lin-41 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684688 | Likely Pathogenic: Congenital hydrocephalus | 32,891,654(+) | G/A | MISSENSE_VARIANT | |
684689 | Likely Pathogenic: Congenital hydrocephalus | 32,891,090(+) | G/A | MISSENSE_VARIANT | |
691461 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 32,890,648(+) | G/T | MISSENSE_VARIANT | |
694594 | Pathogenic: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 | 32,891,027(+) | G/A | MISSENSE_VARIANT | |
694595 | Pathogenic: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 | 32,891,591(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3595784 | CNV | loss | 21293372 |
esv6047 | CNV | gain | 19470904 |
nsv1003285 | CNV | gain | 25217958 |
nsv822051 | CNV | gain | 20364138 |
nsv998302 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hydrocephalus, congenital communicating, 1 |
|
|
congenital communicating hydrocephalus |
|
|
congenital hydrocephalus |
|
|
hydrocephalus |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2h |
|
|