Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55133
Gene name Gene Name - the full gene name approved by the HGNC.
S1 RNA binding domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRBD1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023133 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT2116125 hsa-miR-182 CLIP-seq
MIRT2116126 hsa-miR-31 CLIP-seq
MIRT2116127 hsa-miR-338-3p CLIP-seq
MIRT2116128 hsa-miR-3714 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
GO:0003735 Function Structural constituent of ribosome IBA
GO:0006139 Process Nucleobase-containing compound metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8N5C6
Protein name S1 RNA-binding domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09371 Tex_N 218 401 Tex-like protein N-terminal domain Domain
PF16921 Tex_YqgF 537 663 Tex protein YqgF-like domain Domain
PF12836 HHH_3 703 767 Domain
PF17674 HHH_9 821 898 HHH domain Domain
PF00575 S1 915 991 S1 RNA binding domain Domain
Sequence
MSSLPRRAKVQVQDVVLKDEFSSFSELSSASEEDDKEDSAWEPQKKVPRSRKQPPPKESK
PKRMPRVKKNAPQISDGSEVVVVKEELNSSVAIADTALEDRKNKLDTVQTLKTAKTKQKC
AAQPHTVRRTKKLKVEEETSKASNLEGESNSSETPSTSTVWGGTCKKEENDDDFTFGQSA
LKKIKTETYPQGQPVKFPANANSTKEEVEMNWDMVQVLSERTNIEPWVCANIIRLFNDDN
TIPFIIRYRKELINNLDADSLREVQQTLEELRAVAKKVHSTIQKIKKEGKMSECLLKAML
NCKTFEELEHVSAPYKTGSKGTKAQRARQLGLEGAARALLEKPGELSLLSYIRPDVKGLS
TLQDIEIGVQHILADMIAKDKDTLDFIRNLCQKRHVCIQSS
LAKVSSKKVNEKDVDKFLL
YQHFSCNIRNIHHHQILAINRGENLKVLTVKVNISDGVKDEFCRWCIQNRWRPRSFARPE
LMKILYNSLNDSFKRLIYPLLCREFRAKLTSDAEKESVMMFGRNLRQLLLTSPVPGRTLM
GVDPGYKHGCKLAIISPTSQILHTDVVYLHCGQGFREAEKIKTLLLNFNCSTVVIGNGTA
CRETEAYFADLIMKNYFAPLDVVYCIVSEAGASIYSVSPEANKEMPGLDPNLRSAVSIAR
RVQ
DPLAELVKIEPKHIGVGMYQHDVSQTLLKATLDSVVEECVSFVGVDINICSEVLLRH
IAGLNANRAKNIIEWREKNGPFINREQLKKVKGLGPKSFQQCAGFIR
INQDYIRTFCSQQ
TETSGQIQGVAVTSSADVEVTNEKQGKKKSKTAVNVLLKPNPLDQTCIHPESYDIAMRFL
SSIGGTLYEVGKPEMQQKINSFLEKEGMEKIAERLQTTVHTLQVIIDGLSQPESFDFR
TD
FDKPDFKRSIVCLEDLQIGTVLTGKVENATLFGIFVDIGVGKSGLIPIRNVTEAKLSKTK
KRRSLGLGPGERVEVQVLNIDIPRSRITLDL
IRVL
Sequence length 995
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glaucoma Open Angle Associate 22605921, 25414181, 32569157
Low Tension Glaucoma Associate 32569157
Venous Thromboembolism Associate 29117201