Gene Gene information from NCBI Gene database.
Entrez ID 79949
Gene name Pleckstrin homology domain containing S1
Gene symbol PLEKHS1
Synonyms (NCBI Gene)
C10orf81HEL185
Chromosome 10
Chromosome location 10q25.3
miRNA miRNA information provided by mirtarbase database.
139
miRTarBase ID miRNA Experiments Reference
MIRT671937 hsa-miR-5197-5p HITS-CLIP 23313552
MIRT671936 hsa-miR-130a-3p HITS-CLIP 23313552
MIRT671935 hsa-miR-130b-3p HITS-CLIP 23313552
MIRT671934 hsa-miR-301a-3p HITS-CLIP 23313552
MIRT671933 hsa-miR-301b-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25814554, 28514442, 32296183, 32814053, 33961781
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.
Q5SXH7
Protein name Pleckstrin homology domain-containing family S member 1 (PH domain-containing family S member 1) (Epididymis luminal protein 185) (hEL185)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 15 127 PH domain Domain
Sequence
MAGGKQFTFSYENEVCKQDYFIKSPPSQLFSSVTSWKKRFFILSKAGEKSFSLSYYKDHH
HRGSIEIDQNSSVEVGISSQEKMQSVQKMFKCHPDEVMSIRTTNREYFLIGHDREKIKDW
VSFMSSF
RQDIKATQQNTEEELSLGNKRTLFYSSPLLGPSSTSEAVGSSSPRNGLQDKHL
MEQSSPGFRQTHLQDLSEATQDVKEENHYLTPRSVLLELDNIIASSDSGESIETDGPDQV
SGRIECHYEPMESSFFKETSHESVDSSKEEPQTLPETQDGDLHLQEQGSGIDWCLSPADV
EAQTTNDQKGNIPDESQVEKLNVFLSPPDVINYLALTEATGRICVSQWEGPPRLGCIFCH
GDHLLAVNDLKPQSLEEVSLFLTRSIQKEDSFRILSYQVAFGEGTELRDRAPGFRTSDRH
DVAKRACMESDWCRDSKTAPSTNLCLSFLFCKIMTNDGAGCWIIK
Sequence length 465
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM 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
Benign Neoplasm Benign Neoplasm CTD_human_DG 25261935
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31828095 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm CTD_human_DG 25261935
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms CTD_human_DG 25261935
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 33450964 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32878427, 35446856, 37978443 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 30578357, 36658180 Associate
★☆☆☆☆
Found in Text Mining only