Gene Gene information from NCBI Gene database.
Entrez ID 54799
Gene name Mbt domain containing 1
Gene symbol MBTD1
Synonyms (NCBI Gene)
SA49P01
Chromosome 17
Chromosome location 17q21.33
miRNA miRNA information provided by mirtarbase database.
405
miRTarBase ID miRNA Experiments Reference
MIRT019514 hsa-miR-151a-3p Sequencing 20371350
MIRT022008 hsa-miR-128-3p Sequencing 20371350
MIRT027315 hsa-miR-101-3p Sequencing 20371350
MIRT028724 hsa-miR-27a-3p Sequencing 20371350
MIRT045427 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IDA 27153538, 32209463
GO:0000786 Component Nucleosome IDA 27153538
GO:0003682 Function Chromatin binding IBA
GO:0005515 Function Protein binding IPI 27153538, 32209463
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618705 19866 ENSG00000011258
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF02820 MBT 176 249 mbt repeat Domain
PF02820 MBT 289 356 mbt repeat Domain
PF02820 MBT 388 460 mbt repeat Domain
PF02820 MBT 496 563 mbt repeat Domain
Sequence
MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMV
GVRDAFYSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLQKQPLVAKLAAYA
QYQATLQNQAKTKAAVSMEGFSWGNYINSNSFIAAPVTCFKHAPMGTCWGDISENVRVEV
PNTDCSLPTKVFWIAGIVKLAGYNALLRYEGFENDSGLDFWCNICGSDIHPVGWCAASGK
PLVPPRTIQ
HKYTNWKAFLVKRLTGAKTLPPDFSQKVSESMQYPFKPCMRVEVVDKRHLC
RTRVAVVESVIGGRLRLVYEESEDRTDDFWCHMHSPLIHHIGWSRSIGHRFKRSDI
TKKQ
DGHFDTPPHLFAKVKEVDQSGEWFKEGMKLEAIDPLNLSTICVATIRKVLADGFLMIGID
GSEAADGSDWFCYHATSPSIFPVGFCEINMIELTPPRGYT
KLPFKWFDYLRETGSIAAPV
KLFNKDVPNHGFRVGMKLEAVDLMEPRLICVATVTRIIHRLLRIHFDGWEEEYDQWVDCE
SPDLYPVGWCQLTGYQLQPPASQ
SSRENQSASSKQKKKAKSQQYKGHKKMTTLQLKEELL
DGEDYNFLQGASDQESNGSANFYIKQEP
Sequence length 628
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 35705031 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 23959973
★☆☆☆☆
Found in Text Mining only
Endometrial Stromal Sarcoma Endometrial Stromal Sarcoma BEFREE 23959973
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 36129940 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 35705031 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of brain Brain Neoplasms BEFREE 23959973, 30944653
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 30944653
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23959973
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma BEFREE 31600142
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 31600142 Associate
★☆☆☆☆
Found in Text Mining only