PDZK1IP1 (PDZK1 interacting protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10158
Gene name Gene Name - the full gene name approved by the HGNC.
PDZK1 interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDZK1IP1
Synonyms (NCBI Gene) Gene synonyms aliases
DD96, MAP17, SPAP
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p33
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT733974 hsa-miR-27a-3p Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry 33280497
MIRT2065325 hsa-miR-3184 CLIP-seq
MIRT2065326 hsa-miR-423-5p CLIP-seq
MIRT2065327 hsa-miR-4293 CLIP-seq
MIRT2065328 hsa-miR-4675 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053, 34880493, 38057552
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0016324 Component Apical plasma membrane IEA
GO:0070062 Component Extracellular exosome HDA 19056867
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607178 16887 ENSG00000162366
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q13113
Protein name PDZK1-interacting protein 1 (17 kDa membrane-associated protein) (Protein DD96)
Protein function Auxiliary protein of electrogenic Na(+)-coupled sugar symporter SLC5A2/SGLT2 and SLC5A1/SGLT1 (PubMed:34880493, PubMed:37217492, PubMed:38057552). Essential for the transporter activity of SLC5A2/SGLT2 but not SLC5A1/SGLT1 (PubMed:37217492). {EC
PDB 7VSI , 7WMV , 7YNI , 7YNJ , 7YNK , 8HB0 , 8HDH , 8HEZ , 8HG7 , 8HIN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15807 MAP17 1 → 114 Membrane-associated protein 117 kDa, PDZK1-interacting protein 1 Family
Sequence
Sequence length 114
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 34753383
Acute Lung Injury Associate 37603512
Adenocarcinoma of Lung Associate 30119639
Arthritis Associate 32483203
Arthritis Rheumatoid Associate 32483203
Atrial Fibrillation Associate 30760287
Blister Associate 10951271
Carcinoma Hepatocellular Associate 33832535
Carcinoma Non Small Cell Lung Stimulate 33280497
Carcinoma Pancreatic Ductal Associate 35090421