Gene Gene information from NCBI Gene database.
Entrez ID 222194
Gene name Round spermatid basic protein 1 like
Gene symbol RSBN1L
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q11.23
miRNA miRNA information provided by mirtarbase database.
294
miRTarBase ID miRNA Experiments Reference
MIRT026341 hsa-miR-192-5p Microarray 19074876
MIRT509538 hsa-miR-513b-3p HITS-CLIP 21572407
MIRT509537 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT509536 hsa-miR-569 HITS-CLIP 21572407
MIRT509535 hsa-miR-520d-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0016491 Function Oxidoreductase activity IEA
GO:0046872 Function Metal ion binding IEA
GO:0051213 Function Dioxygenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PCB5
Protein name Lysine-specific demethylase RSBN1L (EC 1.14.11.-) (Round spermatid basic protein 1-like protein)
Protein function Lysine-specific demethylase that specifically demethylates methylated lysine residues of proteins.
Family and domains
Sequence
MAEPPSPVHCVAAAAPTATVSEKEPFGKLQLSSRDPPGSLSAKKVRTEEKKAPRRVNGEG
GSGGNSRQLQPPAAPSPQSYGSPASWSFAPLSAAPSPSSSRSSFSFSAGTAVPSSASASL
SQPVPRKLLVPPTLLHAQPHHLLLPAAAAAASANAKSRRPKEKREKERRRHGLGGAREAG
GASREENGEVKPLPRDKIKDKIKERDKEKEREKKKHKVMNEIKKENGEVKILLKSGKEKP
KTNIEDLQIKKVKKKKKKKHKENEKRKRPKMYSKSIQTICSGLLTDVEDQAAKGILNDNI
KDYVGKNLDTKNYDSKIPENSEFPFVSLKEPRVQNNLKRLDTLEFKQLIHIEHQPNGGAS
VIHAYSNELSHLSPMEMERFAEEFVGLVFSENENSAAFYVMGIVHGAATYLPDFLDYFSF
NFPNSPVKMEILGKKDIETTTMSNFHAQVKRTYSHGTYRAGPMRQISLVGAVDEEVGDYF
PEFLDMLEESPFLKCTLPWGTLSSLKLQSRKDSDDGPIMWVRPGEQMIPVADMPKSPFKR
KRTTNEIKNLQYLPRTSEPREMLFEDRTRAHADHIGQGFERQTTAAVGVLKAVHCGEWPD
QPRITKDVICFHAEDFLEVVQRMQLDLHEPPLSQCVQWVDDAKLNQLRREGIRYARIQLY
DNDIYFIPRNVVHQFKTVSAVCSLAWHIRLKLYHSEEDTSQNTATHETGTSSDSTSSVLG
PHTDNMICAVSKASLDSVFSDKLHSKYELQQIKHEPIASVRIKEEPVNVNIPEKTTALNN
MDGKNVKAKLDHVQFAEFKIDMDSKFENSNKDLKEELCPGNLSLVDTRQHSSAHSNQDKK
DDDILC
Sequence length 846
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM 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
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoma Lymphoma Pubtator 37657032 Associate
★☆☆☆☆
Found in Text Mining only