Gene Gene information from NCBI Gene database.
Entrez ID 5937
Gene name RNA binding motif single stranded interacting protein 1
Gene symbol RBMS1
Synonyms (NCBI Gene)
C2orf12HCC-4MSSPMSSP-1MSSP-2MSSP-3SCR2YC1
Chromosome 2
Chromosome location 2q24.2
Summary This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, origin
miRNA miRNA information provided by mirtarbase database.
970
miRTarBase ID miRNA Experiments Reference
MIRT005194 hsa-miR-30a-5p pSILAC 18668040
MIRT022190 hsa-miR-124-3p Microarray 15685193
MIRT022190 hsa-miR-124-3p Microarray 15685193
MIRT005194 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT031782 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding NAS 7838710
GO:0003697 Function Single-stranded DNA binding NAS 7838710
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602310 9907 ENSG00000153250
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29558
Protein name RNA-binding motif, single-stranded-interacting protein 1 (Single-stranded DNA-binding protein MSSP-1) (Suppressor of CDC2 with RNA-binding motif 2)
Protein function Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication.
PDB 1X5O , 6M75 , 7C36
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 64 129 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 143 209 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Highest amounts are found in placenta, lung and heart.
Sequence
MGKVWKQQMYPQYATYYYPQYLQAKQSLVPAHPMAPPSPSTTSSNNNSSSSSNSGWDQLS
KTNLYIRGLPPHTTDQDLVKLCQPYGKIVSTKAILDKTTNKCKGYGFVDFDSPAAAQKAV
SALKASGVQ
AQMAKQQEQDPTNLYISNLPLSMDEQELENMLKPFGQVISTRILRDSSGTS
RGVGFARMESTEKCEAVIGHFNGKFIKTP
PGVSAPTEPLLCKFADGGQKKRQNPNKYIPN
GRPWHREGEVRLAGMTLTYDPTTAAIQNGFYPSPYSIATNRMITQTSITPYIASPVSAYQ
VQSPSWMQPQPYILQHPGAVLTPSMEHTMSLQPASMISPLAQQMSHLSLGSTGTYMPATS
AMQGAYLPQYAHMQTTAVPVEEASGQQQVAVETSNDHSPYTFQPNK
Sequence length 406
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER 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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36914816, 36989117 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37510319 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 20418489, 22529894, 27193597, 30188962 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 20418489, 29358691, 30054458
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 20418489, 21647700
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 22529894, 30188962
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 40629190 Associate
★☆☆☆☆
Found in Text Mining only
Hypogammaglobulinemia Hypogammaglobulinemia BEFREE 1849806
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 30556863, 30634531 Inhibit
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 20418489 Associate
★☆☆☆☆
Found in Text Mining only