Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| PKHD1 | 5314 | polycystic kidney and hepatic disease 1 (autosomal recessive) | 6 | ARPKD, FCYT |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 21274727 | 2011 | Cell line : - Source : - Sample Type : Population based case control study No. of Sample : 2 European cohorts with colorectal adenocarcinoma versus 2 control cohorts Stage : - | Taq Man assay | Mutation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] |
| Chromosome | 6 |
| Location | 6p21.2-p12 |
| Start | 51480145 |
| End | 519524 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | -50960620 |
| OMIM ID | 606702 |
| HGNC ID | HGNC:9016 |
| Unigene ID | Hs.662050 |
| Ensembl ID | ENSG00000170927 |
| PharmGKB ID | PA33348 |
mRNA Information
| mRNA ID | ?NM_138694.3 |
|---|---|
| Exon | join(26..192,2609..2744,4371..4448,5084..5234,7618..7726, 11293..11350,14085..14163,15437..15511,16556..16620, 17181..17220,18099..18169,21549..21650,22576..22671, 24966..25107,27584..27698,29025..29303,30647..30736, 30838..30928,31897..32039,33461..33588,34375..34550, 37331..37469,39007..39134,41438..41622,42538..42660, 43896..44001,44492..44767,51905..52035,54461..54596, 59275..59470,59730..59797,61445..61917,62560..63052, 64682..64825,69997..70216,77167..77317,127600..127756, 153304..153516,175050..175260,175670..175827, 178152..178343,181286..181411,183584..183640, 183899..184029,200381..200493,201654..201759, 204399..204533,216987..217122,219517..219763, 231556..231733,239656..239851,251157..251222, | mRNA Sequence | Download Select all |
| Length | 16230 |
Protein Information
| Protein ID | NP_619639.3 |
|---|---|
| Protein Name | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Molecular Wt. (Da) | 85080 |
| Protein Sequence | Download Select all |
| Length | 4074 |
| Uniprot ID | Q9GZV9 |
| Ensembl Protein ID | ENSP00000237837 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00603 | 1197-1294 | IPT_PCSR |
| cl15674 | 1197-1294 | IPT superfamily |
| cd00603 | 260-339 | IPT_PCSR |
| cl15674 | 260-339 | IPT superfamily |
| cd00603 | 1389-1479 | IPT_PCSR |
| cl15674 | 1389-1479 | IPT superfamily |
| cd00603 | 1019-1103 | IPT_PCSR |
| cl15674 | 1019-1103 | IPT superfamily |
| cd00603 | 1573-1640 | IPT_PCSR |
| cl15674 | 1573-1640 | IPT superfamily |
| pfam10162 | 1932-2053 | G8 |
| cl10859 | 1932-2053 | G8 superfamily |
| pfam10162 | 2749-2873 | G8 |
| cl10859 | 2749-2873 | G8 superfamily |
| cd00102 | 1389-1479 | IPT |
| cd00102 | 260-313 | IPT |
| cd00102 | 1197-1294 | IPT |
| pfam01833 | 1389-1470 | TIG |
| cd01180 | 260-316 | IPT_plexin_repeat1 |
| pfam01833 | 1486-1569 | TIG |
| cl15674 | 1486-1569 | IPT superfamily |
| cd00102 | 1019-1104 | IPT |
| cd01179 | 261-313 | IPT_plexin_repeat2 |
| smart00429 | 260-311 | IPT |
| pfam01833 | 947-999 | TIG |
| cl15674 | 947-999 | IPT superfamily |
| pfam01833 | 261-311 | TIG |
| cd00102 | 1573-1640 | IPT |
| cd01180 | 1197-1294 | IPT_plexin_repeat1 |
| cd01179 | 1587-1642 | IPT_plexin_repeat2 |
| pfam01833 | 1573-1646 | TIG |
| pfam01833 | 1019-1102 | TIG |
| smart00429 | 1197-1294 | IPT |
| cd01180 | 1019-1103 | IPT_plexin_repeat1 |
| smart00429 | 1389-1445 | IPT |
| cd01179 | 1198-1275 | IPT_plexin_repeat2 |
| pfam01833 | 1200-1256 | TIG |
| cd01179 | 1389-1467 | IPT_plexin_repeat2 |
| cd01181 | 1389-1453 | IPT_plexin_repeat3 |
| cd01180 | 1389-1462 | IPT_plexin_repeat1 |
| pfam01833 | 1108-1185 | TIG |
| cl15674 | 1108-1185 | IPT superfamily |
| smart00429 | 1018-1103 | IPT |
| pfam13229 | 3004-3177 | Beta_helix |
| pfam13229 | 2290-2446 | Beta_helix |
| pfam13229 | 2983-3109 | Beta_helix |
| TIGR04247 | 3027-3194 | NosD_copper_fam |
Ontology Information
| HPRD ID | 3666 |
|---|---|
| Molecular Class | Cell surface receptor |
| Molecular Function | Transcription factor activity (GO:0003700) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.