Gene Gene information from NCBI Gene database.
Entrez ID 26751
Gene name SH3 and SYLF domain containing 1
Gene symbol SH3YL1
Synonyms (NCBI Gene)
RAY
Chromosome 2
Chromosome location 2p25.3
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT1346025 hsa-miR-142-5p CLIP-seq
MIRT1346026 hsa-miR-146a CLIP-seq
MIRT1346027 hsa-miR-146b-5p CLIP-seq
MIRT1346028 hsa-miR-153 CLIP-seq
MIRT1346029 hsa-miR-190 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 28514442, 32296183, 33961781
GO:0006661 Process Phosphatidylinositol biosynthetic process IEA
GO:0019902 Function Phosphatase binding IDA 21624956
GO:0032587 Component Ruffle membrane IBA
GO:0032587 Component Ruffle membrane IDA 21624956
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617314 29546 ENSG00000035115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HL8
Protein name SH3 domain-containing YSC84-like protein 1
PDB 2D8H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04366 Ysc84 86 210 Las17-binding protein actin regulator Family
PF00018 SH3_1 289 336 SH3 domain Domain
Sequence
MNNPIPSNLKSEAKKAAKILREFTEITSRNGPDKIIPAHVIAKAKGLAILSVIKAGFLVT
ARGGSGIVVARLPDGKWSAPSAIGIAGLGGGFEIGIEVSDLVIILNYDRAVEAFAKGGNL
TLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFY
CQDIRAYDILFGDTPRPAQAEDLYEILDSF
TEKYENEGQRINARKAAREQRKSSAKELPP
KPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPG
DLNFQAGDRITVISKTDSHFDWWEGKLRGQTGIFPA
NYVTMN
Sequence length 342
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
LARGE ARTERY STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Mantle cell lymphoma Mantle Cell Lymphoma BEFREE 28556689
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 31427643
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 31427643 Associate
★☆☆☆☆
Found in Text Mining only
Osteonecrosis Osteonecrosis Pubtator 31686588 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 40362200 Stimulate
★☆☆☆☆
Found in Text Mining only