Gene Gene information from NCBI Gene database.
Entrez ID 51177
Gene name Pleckstrin homology domain containing O1
Gene symbol PLEKHO1
Synonyms (NCBI Gene)
CKIP-1CKIP1JBPOC120
Chromosome 1
Chromosome location 1q21.2
miRNA miRNA information provided by mirtarbase database.
170
miRTarBase ID miRNA Experiments Reference
MIRT045557 hsa-miR-149-5p CLASH 23622248
MIRT045557 hsa-miR-149-5p CLASH 23622248
MIRT622703 hsa-miR-8062 HITS-CLIP 23824327
MIRT679959 hsa-miR-6513-3p HITS-CLIP 23824327
MIRT622702 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20580715, 21382345, 23032291, 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IEA
GO:0007520 Process Myoblast fusion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608335 24310 ENSG00000023902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53GL0
Protein name Pleckstrin homology domain-containing family O member 1 (PH domain-containing family O member 1) (C-Jun-binding protein) (JBP) (Casein kinase 2-interacting protein 1) (CK2-interacting protein 1) (CKIP-1) (Osteoclast maturation-associated gene 120 protein)
Protein function Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein
PDB 3AA1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 22 132 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in skeletal muscle and heart, moderately in kidney, liver, brain and placenta and sparingly in the pancreas and lung. Easily detectable in cell lines such as MOLT-4, HEK293 and Jurkat. {ECO:0000269|PubMed:17197158}
Sequence
MMKKNNSAKRGPQDGNQQPAPPEKVGWVRKFCGKGIFREIWKNRYVVLKGDQLYISEKEV
KDEKNIQEVFDLSDYEKCEELRKSKSRSKKNHSKFTLAHSKQPGNTAPNLIFLAVSPEEK
ESWINALNSAIT
RAKNRILDEVTVEEDSYLAHPTRDRAKIQHSRRPPTRGHLMAVASTST
SDGMLTLDLIQEEDPSPEEPTSCAESFRVDLDKSVAQLAGSRRRADSDRIQPSADRASSL
SRPWEKTDKGATYTPQAPKKLTPTEKGRCASLEEILSQRDAASARTLQLRAEEPPTPALP
NPGQLSRIQDLVARKLEETQELLAEVQGLGDGKRKAKDPPRSPPDSESEQLLLETERLLG
EASSNWSQAKRVLQEVRELRDLYRQMDLQTPDSHLRQTTPHSQYRKSLM
Sequence length 409
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
BIPOLAR DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinogenesis Associate 31355268
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Inhibit 28402261
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 37843347
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 32859214
★☆☆☆☆
Found in Text Mining only
Coronary Disease Associate 28402261
★☆☆☆☆
Found in Text Mining only
Glioma Associate 31355268
★☆☆☆☆
Found in Text Mining only
Heart Failure Associate 28402261
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 26979459
★☆☆☆☆
Found in Text Mining only
Hypertension Associate 28402261
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 25966172
★☆☆☆☆
Found in Text Mining only