PDZK1 (PDZ domain containing 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5174
Gene name Gene Name - the full gene name approved by the HGNC.
PDZ domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDZK1
Synonyms (NCBI Gene) Gene synonyms aliases
CAP70, CLAMP, NHERF-3, NHERF3, PDZD1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT019323 hsa-miR-148b-3p Microarray 17612493
MIRT021465 hsa-miR-9-5p Microarray 17612493
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(23)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IBA
GO:0005124 Function Scavenger receptor binding IEA
GO:0005515 Function Protein binding IPI 12471024, 15304510, 15523054, 16141316, 16189514, 17990980, 30604288, 32814053, 33436498, 34189428, 34835087
GO:0005886 Component Plasma membrane IDA 29752999
GO:0005886 Component Plasma membrane IEA
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
603831 8821 ENSG00000174827
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5T2W1
Protein name Na(+)/H(+) exchange regulatory cofactor NHE-RF3 (NHERF-3) (CFTR-associated protein of 70 kDa) (Na(+)/H(+) exchanger regulatory factor 3) (Na/Pi cotransporter C-terminal-associated protein 1) (NaPi-Cap1) (PDZ domain-containing protein 1) (Sodium-hydrogen e
Protein function A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion t
PDB 2EEI , 2EEJ , 2VSP , 3TMH , 4Q2P , 6EZI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 9 → 87 PDZ domain Domain
PF00595 PDZ 137 → 212 PDZ domain Domain
PF00595 PDZ 242 → 320 PDZ domain Domain
PF17820 PDZ_6 402 → 456 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression is limited to epithelial cells. Expressed in the kidney (brush border of proximal tubule), pancreas, liver, and small intestine. Expressed at a lower level in the adrenal cortex, testis and stomach. Overexpressed in breast,
Sequence 
MTSTFNPRECKLSKQEGQNYGFFLRIEKDTEGHLVRVVEKCSPAEKAGLQDGDRVLRING
VFVDKEEHMQVVDLVRKSGNSVTLLVLDGDSYEKAVKTRVDLKELGQSQKEQGLSDNILS
PVMNGGVQTWTQPRLCYLVKEGGSYGFSLKTVQGKKGVYMTDITPQGVAMRAGVLADDHL
IEVNGENVEDASHEEVVEKVKKSGSRVMFLLVDKETDKRHVEQKIQFKRETASLKLLPHQ
PRIVEMKKGSNGYGFYLRAGSEQKGQIIKDIDSGSPAEEAGLKNNDLVVAVNGESVETLD
HDSVVEMIRKGGDQTSLLVVDKETDNMYRLAHFSPFLYYQSQELPNGSVKEAPAPTPTSL
EVSSPPDTTEEVDHKPKLCRLAKGENGYGFHLNAIRGLPGSFIKEVQKGGPADLAGLEDE
DVIIEVNGVNVLDEPYEKVVDRIQSSGKNVTLLVCGKKAYDYFQAKKIPIVSSLADPLDT
PPDSKEGIVVESNHDSHMAKERAHSTASHSSSNSEDTEM
Sequence length 519
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 (1)
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
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 21996756, 24152035
Breast Neoplasms Associate 23547718, 23821363, 24869908, 26183824, 36856111
Carcinoma Hepatocellular Stimulate 36052278
Carcinoma Renal Cell Associate 27993630
Gout Associate 19890391, 26290326, 30626429, 32910705
Hepatitis B Associate 36052278
Hyperpigmentation Associate 22696060
Infections Stimulate 36052278
Melanosis Associate 22696060
Metabolic Syndrome Associate 19321583