ENSG00000158683
Homo sapiens | |
Features
| Gene ID: | ENSG00000158683 | | | | | Biological name : | PKD1L1 | | | | | Synonyms : | PKD1L1 / polycystin 1 like 1, transient receptor potential channel interacting / Q8TDX9 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | -1 | | Band: | p12.3 | | Gene start: | 47774652 | | Gene end: | 47948491 | | | | | Corresponding Affymetrix probe sets: | 1553004_at (Human Genome U133 Plus 2.0 Array) 1563465_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000289672
Ensembl peptide - ENSP00000393466
NCBI entrez gene - 168507
See in Manteia.
OMIM - 609721
RefSeq - XM_017011798
RefSeq - NM_138295
RefSeq Peptide - NP_612152
swissprot - Q8TDX9
swissprot - H7C083
Ensembl - ENSG00000158683
| | | | | Related genetic diseases (OMIM): | 617205 - Heterotaxy, visceral, 8, autosomal, 617205 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| PKD1 / P98161 / polycystin 1, transient receptor potential channel interacting | ENSG00000008710 | 17 | | PKDREJ / Q9NTG1 / polycystin family receptor for egg jelly | ENSG00000130943 | 12 | | PKD1L3 / Q7Z443 / polycystin 1 like 3, transient receptor potential channel interacting | ENSG00000277481 | 10 | | PKD2 / Q13563 / polycystin 2, transient receptor potential cation channel | ENSG00000118762 | 5 | | PKD2L1 / Q9P0L9 / polycystin 2 like 1, transient receptor potential cation channel | ENSG00000107593 | 4 | | PKD2L2 / Q9NZM6 / polycystin 2 like 2, transient receptor potential cation channel | ENSG00000078795 | 3 | | PKD1L2 / Q7Z442 / polycystin 1 like 2 (gene/pseudogene) | ENSG00000166473 | 2 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| | HP:0001719 | Double outlet right ventricle | |
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| | HP:0003363 | Abdominal situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the abdominal organs." [HPO:curators] |
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| | HP:0004935 | Pulmonary artery atresia | |
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| | HP:0011539 | Atrial situs ambiguous | "Common atrium without defining morphologic features." [DDD:dbrown] |
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| | HP:0011579 | Unbalanced atrioventricular canal defect | "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [DDD:dbrown, pmid:20837915] |
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Interacting proteins (from Reactome)
No match
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