Gene Gene information from NCBI Gene database.
Entrez ID 55133
Gene name S1 RNA binding domain 1
Gene symbol SRBD1
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p21
miRNA miRNA information provided by mirtarbase database.
9
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
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 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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMORRHOID 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
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 25760438
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma GWASDB_DG 20363506
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glaucoma Glaucoma GWASCAT_DG 20363506
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glaucoma Glaucoma BEFREE 24040232
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle Open angle glaucoma Pubtator 22605921, 25414181, 32569157 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma, Primary Open Angle Glaucoma BEFREE 21508110, 25461262
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Low Tension Glaucoma Low Tension Glaucoma BEFREE 20363506, 21508110, 25461262
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 29117201 Associate
★☆☆☆☆
Found in Text Mining only