Gene Page: NPHP1
Summary ?
| GeneID | 4867 |
| Symbol | NPHP1 |
| Synonyms | JBTS4|NPH1|SLSN1 |
| Description | nephronophthisis 1 (juvenile) |
| Reference | MIM:607100|HGNC:HGNC:7905|Ensembl:ENSG00000144061|HPRD:02019|HPRD:09524|Vega:OTTHUMG00000131195 |
| Gene type | protein-coding |
| Map location | 2q13 |
| Pascal p-value | 0.013 |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_I | Genome scan meta-analysis | Psr: 0.0004 | |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.00755 | |
| Expression | Meta-analysis of gene expression | P value: 2.538 |
Section I. Genetics and epigenetics annotation
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| LARS | 0.92 | 0.91 |
| GTPBP4 | 0.92 | 0.92 |
| GGNBP2 | 0.91 | 0.91 |
| IMMT | 0.91 | 0.90 |
| PLAA | 0.91 | 0.90 |
| CUL2 | 0.91 | 0.88 |
| CUL3 | 0.91 | 0.90 |
| GPBP1 | 0.91 | 0.91 |
| STRBP | 0.91 | 0.91 |
| VPS45 | 0.91 | 0.91 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| MT-CO2 | -0.81 | -0.81 |
| AF347015.31 | -0.80 | -0.82 |
| AF347015.33 | -0.80 | -0.81 |
| AF347015.8 | -0.80 | -0.81 |
| AF347015.27 | -0.78 | -0.79 |
| FXYD1 | -0.77 | -0.82 |
| AF347015.2 | -0.77 | -0.79 |
| AF347015.21 | -0.77 | -0.78 |
| MT-CYB | -0.77 | -0.78 |
| AF347015.15 | -0.76 | -0.79 |
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12244321 | |
| GO:0005198 | structural molecule activity | NAS | 12006559 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0007165 | signal transduction | NAS | 12244321 | |
| GO:0007632 | visual behavior | NAS | 12205563 | |
| GO:0007588 | excretion | TAS | 9361039 | |
| GO:0016337 | cell-cell adhesion | NAS | 12006559 | |
| GO:0030036 | actin cytoskeleton organization | NAS | 12006559 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0016020 | membrane | NAS | 10665934 | |
| GO:0030054 | cell junction | IEA | - |
Section IV. Protein-protein interaction annotation
| Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
|---|---|---|---|---|---|
| BCAR1 | CAS | CAS1 | CASS1 | CRKAS | P130Cas | breast cancer anti-estrogen resistance 1 | - | HPRD,BioGRID | 10739664 |11493697 |
| FLNA | ABP-280 | ABPX | DKFZp434P031 | FLN | FLN1 | FMD | MNS | NHBP | OPD | OPD1 | OPD2 | filamin A, alpha (actin binding protein 280) | - | HPRD,BioGRID | 12006559 |
| FLNB | ABP-278 | AOI | DKFZp686A1668 | DKFZp686O033 | FH1 | FLN1L | LRS1 | SCT | TABP | TAP | filamin B, beta (actin binding protein 278) | - | HPRD,BioGRID | 12006559 |
| FLNC | ABP-280 | ABP280A | ABPA | ABPL | FLJ10186 | FLN2 | filamin C, gamma (actin binding protein 280) | - | HPRD | 12006559 |
| INVS | INV | KIAA0573 | MGC133080 | MGC133081 | NPH2 | NPHP2 | inversin | - | HPRD,BioGRID | 12872123 |
| NPHP1 | FLJ97602 | JBTS4 | NPH1 | SLSN1 | nephronophthisis 1 (juvenile) | - | HPRD,BioGRID | 12006559 |
| NPHP3 | DKFZp667K242 | DKFZp781K1312 | FLJ30691 | FLJ36696 | KIAA2000 | MGC78666 | NPH3 | nephronophthisis 3 (adolescent) | - | HPRD,BioGRID | 12872122 |
| NPHP4 | KIAA0673 | SLSN4 | nephronophthisis 4 | - | HPRD,BioGRID | 12244321 |
| PTK2B | CADTK | CAKB | FADK2 | FAK2 | FRNK | PKB | PTK | PYK2 | RAFTK | PTK2B protein tyrosine kinase 2 beta | - | HPRD,BioGRID | 11493697 |
| TNS1 | DKFZp586K0617 | MGC88584 | MST091 | MST122 | MST127 | MSTP122 | MSTP127 | MXRA6 | TNS | tensin 1 | - | HPRD,BioGRID | 11493697 |
| TUBB | M40 | MGC117247 | MGC16435 | OK/SW-cl.56 | TUBB1 | TUBB5 | tubulin, beta | Affinity Capture-Western | BioGRID | 12872123 |
| TUBB2A | TUBB | TUBB2 | dJ40E16.7 | tubulin, beta 2A | - | HPRD | 12872123 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL UP | 285 | 181 | All SZGR 2.0 genes in this pathway |
| DODD NASOPHARYNGEAL CARCINOMA UP | 1821 | 933 | All SZGR 2.0 genes in this pathway |
| GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN | 234 | 147 | All SZGR 2.0 genes in this pathway |
| PUJANA BRCA1 PCC NETWORK | 1652 | 1023 | All SZGR 2.0 genes in this pathway |
| PUJANA ATM PCC NETWORK | 1442 | 892 | All SZGR 2.0 genes in this pathway |
| SHEN SMARCA2 TARGETS DN | 357 | 212 | All SZGR 2.0 genes in this pathway |
| CHESLER BRAIN QTL CIS | 75 | 51 | All SZGR 2.0 genes in this pathway |
| CUI TCF21 TARGETS 2 UP | 428 | 266 | All SZGR 2.0 genes in this pathway |
| CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 | 473 | 224 | All SZGR 2.0 genes in this pathway |
| MATZUK SPERMATOZOA | 114 | 77 | All SZGR 2.0 genes in this pathway |