MBTD1 (mbt domain containing 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54799 |
| Gene name | Mbt domain containing 1 |
| Gene symbol | MBTD1 |
| Synonyms (NCBI Gene) |
SA49P01
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| Chromosome | 17 |
| Chromosome location | 17q21.33 |
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miRNA
miRNA information provided by mirtarbase database.
405
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q05BQ5 | |||||||||||||||||||||||||
| Protein name | MBT domain-containing protein 1 | |||||||||||||||||||||||||
| Protein function | Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:27153538, PubMed:322094 | |||||||||||||||||||||||||
| PDB | 3FEO , 4C5I , 6NFX | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMV |
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| Sequence length | 628 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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Related Genes
Genes most often co-reported with MBTD1 across shared curated disease and pathway associations.
0
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to MBTD1 (see Related Genes above), that are NOT already directly curated for MBTD1 itself -- a lead worth checking, not a confirmed association.
0
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