Gene Gene information from NCBI Gene database.
Entrez ID 125950
Gene name Ribonucleoprotein, PTB binding 1
Gene symbol RAVER1
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
395
miRTarBase ID miRNA Experiments Reference
MIRT016348 hsa-miR-193b-3p Proteomics 21512034
MIRT022658 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT052550 hsa-let-7a-5p CLASH 23622248
MIRT049468 hsa-miR-92a-3p CLASH 23622248
MIRT044108 hsa-miR-361-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 18377426, 19523901, 32296183, 33961781, 34819669
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609950 30296 ENSG00000161847
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IY67
Protein name Ribonucleoprotein PTB-binding 1 (Protein raver-1)
Protein function Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity).
PDB 3H2U , 3H2V , 3SMZ , 3VF0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 61 124 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 134 204 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 224 293 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MAADVSVTHRPPLSPKSGAEVEAGDAAERRAPEEELPPLDPEEIRKRLEHTERQFRNRRK
ILIRGLPGDVTNQEVHDLLSDYELKYCFVDKYKGTAFVTLLNGEQAEAAINAFHQSRLRE
RELS
VQLQPTDALLCVANLPPSLTQQQFEELVRPFGSLERCFLVYSERTGQSKGYGFAEY
MKKDSAARAKSDLLGKPLGPRTLY
VHWTDAGQLTPALLHSRCLCVDRLPPGFNDVDALCR
ALSAVHSPTFCQLACGQDGQLKGFAVLEYETAEMAEEAQQQADGLSLGGSHLR
VSFCAPG
PPGRSMLAALIAAQATALNRGKGLLPEPNILQLLNNLGPSASLQLLLNPLLHGSAGGKQG
LLGAPPAMPLLNGPALSTALLQLALQTQGQKKPGILGDSPLGALQPGAQPANPLLGELPA
GGGLPPELPPRRGKPPPLLPSVLGPAGGDREALGLGPPAAQLTPPPAPVGLRGSGLRGPL
SHFYSGSPTSYFTSGLQAGLKQSHLSKAIGSSPLGSGEGLLGLSPGPNGHSHLLKVRAGG
GDMQGWEAPAPQRPLTRPALPSVSRPHWAARNAALPTCCPRPSPAQKAAMWASTPRASAA
TTRTPT
Sequence length 606
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE 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
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
Craniopharyngioma Craniopharyngioma Pubtator 40581690 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
Hypercholesterolemia, Familial Hypercholesterolemia GWASDB_DG 22968135
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Alcoholic Liver cirrhosis Pubtator 35134262 Associate
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 23143596
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis Ulcerative colitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations