Gene Gene information from NCBI Gene database.
Entrez ID 4591
Gene name Tripartite motif containing 37
Gene symbol TRIM37
Synonyms (NCBI Gene)
MULPOB1TEF3
Chromosome 17
Chromosome location 17q22
Summary 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
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs112762655 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs121908391 C>G Pathogenic 5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, missense variant
rs373520509 G>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs386833416 C>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs386833999 ->ATCT Likely-pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
694
miRTarBase ID miRNA Experiments Reference
MIRT022999 hsa-miR-124-3p Microarray 18668037
MIRT047093 hsa-miR-183-5p CLASH 23622248
MIRT044117 hsa-miR-30e-3p CLASH 23622248
MIRT039127 hsa-miR-769-3p CLASH 23622248
MIRT545479 hsa-miR-4428 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 25470042
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity IDA 23077300
GO:0004842 Function Ubiquitin-protein transferase activity IDA 15885686
GO:0005164 Function Tumor necrosis factor receptor binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605073 7523 ENSG00000108395
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94972
Protein name E3 ubiquitin-protein ligase TRIM37 (EC 2.3.2.27) (Mulibrey nanism protein) (RING-type E3 ubiquitin transferase TRIM37) (Tripartite motif-containing protein 37)
Protein function E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of 'Lys-119
PDB 3LRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00643 zf-B_box 90 132 B-box zinc finger Domain
PF00917 MATH 283 404 MATH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:10888877). Highly expressed in testis, while it is weakly expressed in other tissues (PubMed:16310976). {ECO:0000269|PubMed:10888877, ECO:0000269|PubMed:16310976}.
Sequence
MDEQSVESIAEVFRCFICMEKLRDARLCPHCSKLCCFSCIRRWLTEQRAQCPHCRAPLQL
RELVNCRWAEEVTQQLDTLQLCSLTKHEENEKDKCENHHEKLSVFCWTCKKCICHQCALW
GGMHGGHTFKPL
AEIYEQHVTKVNEEVAKLRRRLMELISLVQEVERNVEAVRNAKDERVR
EIRNAVEMMIARLDTQLKNKLITLMGQKTSLTQETELLESLLQEVEHQLRSCSKSELISK
SSEILMMFQQVHRKPMASFVTTPVPPDFTSELVPSYDSATFVLENFSTLRQRADPVYSPP
LQVSGLCWRLKVYPDGNGVVRGYYLSVFLELSAGLPETSKYEYRVEMVHQSCNDPTKNII
REFASDFEVGECWGYNRFFRLDLLANEGYLNPQNDTVILRFQVR
SPTFFQKSRDQHWYIT
QLEAAQTSYIQQINNLKERLTIELSRTQKSRDLSPPDNHLSPQNDDALETRAKKSACSDM
LLEGGPTTASVREAKEDEEDEEKIQNEDYHHELSDGDLDLDLVYEDEVNQLDGSSSSASS
TATSNTEENDIDEETMSGENDVEYNNMELEEGELMEDAAAAGPAGSSHGYVGSSSRISRR
THLCSAATSSLLDIDPLILIHLLDLKDRSSIENLWGLQPRPPASLLQPTASYSRKDKDQR
KQQAMWRVPSDLKMLKRLKTQMAEVRCMKTDVKNTLSEIKSSSAASGDMQTSLFSADQAA
LAACGTENSGRLQDLGMELLAKSSVANCYIRNSTNKKSNSPKPARSSVAGSLSLRRAVDP
GENSRSKGDCQTLSEGSPGSSQSGSRHSSPRALIHGSIGDILPKTEDRQCKALDSDAVVV
AVFSGLPAVEKRRKMVTLGANAKGGHLEGLQMTDLENNSETGELQPVLPEGASAAPEEGM
SSDSDIECDTENEEQEEHTSVGGFHDSFMVMTQPPDEDTHSSFPDGEQIGPEDLSFNTDE
NSGR
Sequence length 964
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
218
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mulibrey nanism syndrome Likely pathogenic; Pathogenic rs1409660715, rs1197523487, rs757148418, rs2145613542, rs2044281812, rs186251998, rs386834008, rs2545739504, rs1285784670, rs2546505433, rs2545197666, rs2545206298, rs776907931, rs752417927, rs1285351867
View all (52 more)
RCV001418333
RCV001785085
RCV003475208
RCV003475313
RCV002283740
RCV000005552
RCV000005558
RCV003131769
RCV003317986
RCV003474134
RCV003474135
RCV003474136
RCV003474137
RCV003474138
RCV003474139
RCV003474140
RCV003474141
RCV003474142
RCV003474143
RCV003474144
RCV003474145
RCV003474146
RCV003474147
RCV003474148
RCV003474149
RCV003474150
RCV003474151
RCV003474152
RCV003474153
RCV003474154
RCV003474155
RCV003474156
RCV003474157
RCV003474158
RCV003474159
RCV003474160
RCV003474161
RCV005022025
RCV005014808
RCV004573202
RCV004573752
RCV004573753
RCV004573754
RCV004573755
RCV004573756
RCV004573757
RCV004573758
RCV004573759
RCV004573760
RCV004573761
RCV004573762
RCV004573763
RCV004573764
RCV004573765
RCV000680212
RCV000761536
RCV000824872
RCV000049976
RCV000049977
RCV000049978
RCV000049979
RCV000049980
RCV000049981
RCV000049983
RCV000049984
RCV000049985
RCV000049987
RCV001197354
RCV004570659
See cases Likely pathogenic rs2145613542 RCV002252376
TRIM37-related disorder Likely pathogenic rs2042759492 RCV003400359
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs192241034 RCV005911459
Cholangiocarcinoma Benign; Likely benign; Uncertain significance rs192241034, rs112933880, rs139747073 RCV005911462
RCV005917455
RCV005930400
Familial cancer of breast Benign; Likely benign rs192241034, rs186905046 RCV005911458
RCV005919194
Gastric cancer Likely benign rs186905046 RCV005919196
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 11331760, 11774034, 31409898, 32908313, 35864973, 35959349
Carcinogenesis Associate 32329860
Carcinoma Hepatocellular Associate 35142083
Colorectal Neoplasms Associate 28081740, 34373442
Colorectal Neoplasms Stimulate 28098873
Congenital Abnormalities Associate 39225643
Dystonic Disorders Associate 19329943
Growth Disorders Associate 29940807, 39225643
Heart Diseases Associate 32908313
Heart Failure Associate 39225643