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This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. [provided by RefSeq, Mar 2016]
TRIM37 (Tripartite Motif Containing 37) is a Protein Coding gene. Diseases associated with TRIM37 include Mulibrey Nanism and Acid-Labile Subunit Deficiency. Among its related pathways are Chromatin Regulation / Acetylation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is TRIM66.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IDA | 15885686 |
GO:0005164 | tumor necrosis factor receptor binding | IBA,IPI | 11279055 |
GO:0005515 | protein binding | IEA,IPI | 11279055 |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 23769972 |
GO:0005777 | peroxisome | IBA,IDA | 11938494 |
GO:0005829 | cytosol | IDA | 11279055 |
GO:0016235 | aggresome | IBA,IDA | 15885686 |
GO:0035098 | colocalizes_with ESC/E(Z) complex | IDA | 25470042 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Chromatin Regulation / Acetylation | ||
3 | Ubiquitin mediated proteolysis | ||
4 | Innate Immune System |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 25470042 |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0032088 | negative regulation of NF-kappaB transcription factor activity | IBA,IDA | 11279055 |
GO:0035518 | histone H2A monoubiquitination | IDA | 25470042 |
GO:0036353 | histone H2A-K119 monoubiquitination | IDA | 25470042 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRIM37 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | TRIM37 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRIM37 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trim37 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trim37 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TRIM37 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRIM37 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRIM37 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trim37 30 |
|
||
Str.3537 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | trim37 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7142 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666333 | Likely Pathogenic: Mulibrey nanism syndrome | 59,056,920(-) | G/GGCGAGTAAGTC | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
714801 | Likely Benign: not provided | 59,081,214(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
725928 | Likely Benign: not provided | 59,049,361(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
728184 | Likely Benign: not provided | 59,028,482(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
729956 | Benign: not provided | 59,061,055(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3270n100 | CNV | gain | 25217958 |
esv2421884 | CNV | deletion | 20811451 |
esv2675820 | CNV | deletion | 23128226 |
esv2758699 | CNV | gain | 17122850 |
esv3554606 | CNV | deletion | 23714750 |
esv3640900 | CNV | loss | 21293372 |
esv3640901 | CNV | loss | 21293372 |
nsv1065063 | CNV | gain | 25217958 |
nsv1127585 | CNV | deletion | 24896259 |
nsv1134660 | CNV | deletion | 24896259 |
nsv507849 | OTHER | sequence alteration | 20534489 |
nsv510719 | CNV | deletion | 20534489 |
nsv514855 | CNV | loss | 21397061 |
nsv828068 | CNV | loss | 20364138 |
nsv828069 | CNV | loss | 20364138 |
nsv833499 | CNV | loss | 17160897 |
nsv9574 | CNV | loss | 18304495 |
nsv962452 | CNV | deletion | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mulibrey nanism |
|
|
acid-labile subunit deficiency |
|
|
peroxisomal disease |
|
|
constrictive pericarditis |
|
|
peliosis hepatis |
|
|