PDZK1IP1 (PDZK1 interacting protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10158
Gene name PDZK1 interacting protein 1
Gene symbol PDZK1IP1
Synonyms (NCBI Gene)
DD96MAP17SPAP
Chromosome 1
Chromosome location 1p33
miRNA miRNA information provided by mirtarbase database.
9
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 assayWestern blottingqRT-PCRFlow 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607178 16887 ENSG00000162366
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 30119639
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30119639
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17122504
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 32483203 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 32483203 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28280732
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 30760287 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Blister Blister Pubtator 10951271 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25837675, 31273628
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 10496535, 17426052, 17548903, 22266858, 25837675, 30250642, 9815914
★★★★★
★☆☆☆☆
Found in Text Mining only