Details for: PDZK1

Gene ID: 5174

Symbol: PDZK1

Ensembl ID: ENSG00000174827

Description: PDZ domain containing 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 42.0135
    Cell Significance Index: -6.5400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 26.3362
    Cell Significance Index: -6.6800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 8.8244
    Cell Significance Index: -8.4300
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 7.9455
    Cell Significance Index: 10.2800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.3385
    Cell Significance Index: 34.6400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.4996
    Cell Significance Index: -9.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1675
    Cell Significance Index: 430.1600
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.3702
    Cell Significance Index: 10.3900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1274
    Cell Significance Index: 67.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0176
    Cell Significance Index: 100.6600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.9798
    Cell Significance Index: 16.4800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8419
    Cell Significance Index: 91.5800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.8418
    Cell Significance Index: 6.4400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.6031
    Cell Significance Index: 10.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5710
    Cell Significance Index: 92.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5696
    Cell Significance Index: 12.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5177
    Cell Significance Index: 35.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4922
    Cell Significance Index: 14.1800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.4812
    Cell Significance Index: 15.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4279
    Cell Significance Index: 9.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3937
    Cell Significance Index: 29.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3601
    Cell Significance Index: 41.9600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3304
    Cell Significance Index: 298.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2962
    Cell Significance Index: 56.3600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2658
    Cell Significance Index: 9.3400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.2648
    Cell Significance Index: 7.8000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.1725
    Cell Significance Index: 2.6000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.1646
    Cell Significance Index: 1.6600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1570
    Cell Significance Index: 31.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.1408
    Cell Significance Index: 11.1500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1332
    Cell Significance Index: 5.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1276
    Cell Significance Index: 4.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.1215
    Cell Significance Index: 75.8900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.1128
    Cell Significance Index: 1.4200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1066
    Cell Significance Index: 13.6700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1004
    Cell Significance Index: 2.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0989
    Cell Significance Index: 6.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0981
    Cell Significance Index: 6.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0826
    Cell Significance Index: 152.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0559
    Cell Significance Index: 1.1900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.0509
    Cell Significance Index: 0.4300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0492
    Cell Significance Index: 0.6100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0423
    Cell Significance Index: 29.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0333
    Cell Significance Index: 11.9400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0315
    Cell Significance Index: 48.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0314
    Cell Significance Index: 19.9600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0214
    Cell Significance Index: 11.6600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0162
    Cell Significance Index: 2.7600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0146
    Cell Significance Index: 27.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0140
    Cell Significance Index: 0.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0140
    Cell Significance Index: 0.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0121
    Cell Significance Index: 0.9300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0116
    Cell Significance Index: 15.8400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0110
    Cell Significance Index: 8.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0029
    Cell Significance Index: 0.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0025
    Cell Significance Index: 1.8700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0008
    Cell Significance Index: 0.0200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.0016
    Cell Significance Index: -0.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0023
    Cell Significance Index: -0.3300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0053
    Cell Significance Index: -0.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0056
    Cell Significance Index: -3.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0076
    Cell Significance Index: -3.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0088
    Cell Significance Index: -1.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0090
    Cell Significance Index: -0.9200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0096
    Cell Significance Index: -2.0300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0104
    Cell Significance Index: -7.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0108
    Cell Significance Index: -0.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0159
    Cell Significance Index: -7.2400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0203
    Cell Significance Index: -0.3000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0234
    Cell Significance Index: -0.5600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0242
    Cell Significance Index: -0.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0266
    Cell Significance Index: -7.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0354
    Cell Significance Index: -4.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0429
    Cell Significance Index: -5.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0443
    Cell Significance Index: -6.0900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0474
    Cell Significance Index: -0.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0477
    Cell Significance Index: -0.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0518
    Cell Significance Index: -3.6600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0519
    Cell Significance Index: -1.4500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0549
    Cell Significance Index: -0.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0565
    Cell Significance Index: -5.8900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0571
    Cell Significance Index: -0.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0615
    Cell Significance Index: -3.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0673
    Cell Significance Index: -8.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0792
    Cell Significance Index: -1.1700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0844
    Cell Significance Index: -9.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0849
    Cell Significance Index: -2.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0894
    Cell Significance Index: -2.5500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0909
    Cell Significance Index: -0.7500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0916
    Cell Significance Index: -2.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0925
    Cell Significance Index: -4.8200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1030
    Cell Significance Index: -3.2800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1034
    Cell Significance Index: -6.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1088
    Cell Significance Index: -5.7200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1142
    Cell Significance Index: -2.4400
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.1165
    Cell Significance Index: -0.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1187
    Cell Significance Index: -4.1600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1211
    Cell Significance Index: -1.5100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1237
    Cell Significance Index: -4.0500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1353
    Cell Significance Index: -7.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PDZK1 is a unique gene that encodes a protein containing a PDZ domain, a conserved motif involved in protein-protein interactions. The PDZ domain of PDZK1 is essential for its ability to bind to specific proteins, thereby regulating their localization and function at the plasma membrane. PDZK1 is predominantly expressed in various cell types, including retinal bipolar neurons, neuroendocrine cells, and epithelial cells of the proximal tubule. **Pathways and Functions:** PDZK1 is involved in multiple signaling pathways, including: 1. **Positive regulation of cation transmembrane transport**: PDZK1 enhances the activity of ion transporters, such as NHE-RF3, which regulates sodium and hydrogen ion exchange across the plasma membrane. 2. **Positive regulation of protein localization to membrane**: PDZK1 facilitates the targeting of proteins to the plasma membrane, ensuring proper localization and function. 3. **Protein-membrane adaptor activity**: PDZK1 acts as a molecular adapter, bridging proteins to the plasma membrane, thereby regulating various cellular processes. 4. **Regulation of monoatomic anion transport**: PDZK1 modulates the transport of anions, such as chloride and bicarbonate, across the plasma membrane. **Clinical Significance:** The dysregulation of PDZK1 has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in PDZK1 have been associated with neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 2. **Cancer**: Overexpression of PDZK1 has been observed in various cancers, including colorectal and breast cancer, suggesting its potential role as an oncogene. 3. **Metabolic disorders**: PDZK1 may play a role in the regulation of ion transport and glucose metabolism, which could contribute to the development of metabolic disorders, such as type 2 diabetes. In conclusion, PDZK1 is a critical gene that regulates various cellular processes, including membrane association, protein localization, and ion transport. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of PDZK1 and its potential therapeutic applications.

Genular Protein ID: 3060900525

Symbol: NHRF3_HUMAN

Name: Na(+)/H(+) exchange regulatory cofactor NHE-RF3

UniProtKB Accession Codes:

Q5T2W1 B4DPB9 E7EU02 O60450 Q5T5P6 Q9BQ41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9461128

Title: Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains.

PubMed ID: 9461128

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10496535

Title: PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein.

PubMed ID: 10496535

PubMed ID: 11051556

Title: Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity.

PubMed ID: 11051556

DOI: 10.1016/s0092-8674(00)00096-9

PubMed ID: 15494376

Title: Bcr (breakpoint cluster region) protein binds to PDZ-domains of scaffold protein PDZK1 and vesicle coat protein Mint3.

PubMed ID: 15494376

DOI: 10.1242/jcs.01472

PubMed ID: 15766278

Title: The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-exchanger DRA in rabbit small intestinal mucosa.

PubMed ID: 15766278

DOI: 10.1021/bi048828b

PubMed ID: 16141316

Title: Role of PDZK1 in membrane expression of renal brush border ion exchangers.

PubMed ID: 16141316

DOI: 10.1073/pnas.0506578102

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 30604288

Title: Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12).

PubMed ID: 30604288

DOI: 10.1007/s12576-018-00658-1

Sequence Information:

  • Length: 519
  • Mass: 57129
  • Checksum: 98BF707F87CD77A6
  • Sequence:
    • MTSTFNPREC KLSKQEGQNY GFFLRIEKDT EGHLVRVVEK CSPAEKAGLQ DGDRVLRING 
VFVDKEEHMQ VVDLVRKSGN SVTLLVLDGD SYEKAVKTRV DLKELGQSQK EQGLSDNILS 
PVMNGGVQTW TQPRLCYLVK EGGSYGFSLK TVQGKKGVYM TDITPQGVAM RAGVLADDHL 
IEVNGENVED ASHEEVVEKV KKSGSRVMFL LVDKETDKRH VEQKIQFKRE TASLKLLPHQ 
PRIVEMKKGS NGYGFYLRAG SEQKGQIIKD IDSGSPAEEA GLKNNDLVVA VNGESVETLD 
HDSVVEMIRK GGDQTSLLVV DKETDNMYRL AHFSPFLYYQ SQELPNGSVK EAPAPTPTSL 
EVSSPPDTTE EVDHKPKLCR LAKGENGYGF HLNAIRGLPG SFIKEVQKGG PADLAGLEDE 
DVIIEVNGVN VLDEPYEKVV DRIQSSGKNV TLLVCGKKAY DYFQAKKIPI VSSLADPLDT 
PPDSKEGIVV ESNHDSHMAK ERAHSTASHS SSNSEDTEM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.