Annotation Details for PKHD1
Basic Information Top
| Gene Symbol: | PKHD1 ( ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1 ) |
|---|---|
| Gene Full Name: | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Band: | 6p12.3-p12.2 |
| Quick Links | Entrez ID:5314; OMIM: 606702; Uniprot ID:PKHD1_HUMAN; ENSEMBL ID: ENSG00000170927; HGNC ID: 9016 |
| Relate to Another Database: | SFARIGene; denovo-db |
| GO ID | Evidence | Qualifier | GO_term | References |
|---|---|---|---|---|
| GO:0000775 | IEA | - | chromosome, centromeric region | - |
| GO:0005737 | IDA | - | cytoplasm | 20709014 |
| GO:0005813 | IDA | - | centrosome | 20554582 |
| GO:0005929 | IDA | - | cilium | 15458427 |
| GO:0016021 | IEA | - | integral component of membrane | - |
| GO:0016324 | IDA | - | apical plasma membrane | 16243292 |
| GO:0031362 | TAS | - | anchored component of external side of plasma membrane | 11919560 |
| GO:0036064 | IDA | - | ciliary basal body | 14978161 |
| GO:0048471 | IDA | - | perinuclear region of cytoplasm | 20709014 |
| GO:0070062 | IDA | - | extracellular exosome | 19056867 |
| GO:0072686 | IDA | - | mitotic spindle | 20554582 |
| GO ID | Evidence | Qualifier | GO_term | References |
|---|---|---|---|---|
| GO:0004872 | NAS | - | receptor activity | 11919560 |
| GO:0005515 | IPI | - | protein binding | 16243292 |
| GO ID | Evidence | Qualifier | GO_term | References |
|---|---|---|---|---|
| GO:0001822 | ISS | - | kidney development | - |
| GO:0006874 | IMP | - | cellular calcium ion homeostasis | 17669261 |
| GO:0008284 | IMP | - | positive regulation of cell proliferation | 19943112 |
| GO:0010824 | IMP | - | regulation of centrosome duplication | 20554582 |
| GO:0016337 | ISS | - | single organismal cell-cell adhesion | - |
| GO:0032006 | IMP | - | regulation of TOR signaling | 19524688 |
| GO:0032088 | IMP | - | negative regulation of NF-kappaB transcription factor activity | 21300060 |
| GO:0042592 | NAS | - | homeostatic process | 11919560 |
| GO:0043066 | IMP | - | negative regulation of apoptotic process | 19943112 |
| GO:0051271 | ISS | - | negative regulation of cellular component movement | - |
| GO:0051898 | IMP | - | negative regulation of protein kinase B signaling | 21300060 |
| GO:0060271 | ISS | - | cilium assembly | - |
| GO:0070372 | IMP | - | regulation of ERK1 and ERK2 cascade | 17669261 |
Protein-Protein Interaction