polycystic kidney disease 1 (autosomal dominant)

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Synonym

Polycystin-1 precursor, PKD1, polycystic kidney disease 1 (autosomal dominant)

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:65.20 cerebellum:352.60 brain stem:- corpus callosum/glia:- pineal gland:445 peripheral nerve:30.70 spine:- retina:- eye:152.80 artery/aorta:- vein:- lymphnode:50.60 peripheral blood:- spleen:113.40 thymus:77.30 bone marrow:39.40 adipose:- bone:25.60 skin:28.80
GeneChip cerebrum:6.53 cerebellum:8.12 brain stem:6.50 corpus callosum/glia:6.44 pineal gland:- peripheral nerve:6.17 spine:6.29 retina:- eye:- artery/aorta:6.57 vein:6.37 lymphnode:5.95 peripheral blood:- spleen:5.94 thymus:6.14 bone marrow:6.10 adipose:6.36 bone:- skin:6.46
CAGE nodata
RNA-seq cerebrum:0.58 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:0.00 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:0.95 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:18.20 placenta:36.40 prostate:- ovary:149.10 testis:77.90 heart:25.50 muscle:20.10 esophagus:- stomach:42.50 intestine:32.40 colon:59.40     liver/hepato:-        lung:68.40    bladder:- kidney:72.80 pituitary:116 thyroid/parathyroid:- adrenal gland:- pancreas:97.80 breast:65.10 salivary:-
GeneChip uterus:6.39 placenta:6 prostate:6.09 ovary:6.26 testis:6.19 heart:6.24 muscle:6.52 esophagus:6.19 stomach:6.02 intestine:6.18 colon:6.25 liver/hepato:5.95 lung:6.06 bladder:- kidney:6.01 pituitary:7.06 thyroid/parathyroid:5.88 adrenal gland:5.99 pancreas:6.23 breast:6.05 salivary:6.44
CAGE nodata
RNA-seq uterus:- placenta:- prostate:0.68 ovary:1.98 testis:1.14 heart:0.66 muscle:3.09 esophagus:- stomach:- intestine:- colon:2.29     liver/hepato:0.30        lung:0.77    bladder:- kidney:1.33 pituitary:- thyroid/parathyroid:1.14 adrenal gland:2.00 pancreas:- breast:0.87 salivary:-

IDs

Refseq ID NM_000296
Gene ID 5310
Unigene ID Hs.75813
Probe set ID 216949_s_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000008710
GTEx ID ENSG00000008710

Orthologous Gene

Mouse[1]  NM_013630
Rat[1]  NM_013630

Chromosomal Region

Gene Family (Interpro ID)

Link to Pubmed  (Pubmed ID)

1577479
2821260
7581371
7633406
7663510
7736581
7894481
8004675
8554072
8643665
8765322
8792818
8981910
9150733
9171830
9177229
9192675
9199561
9259200
9285784
9326937
9345095
9521593
9889186
9921908
10097141
10200984
10339594
10364515
10493829
10577909
10647901
10729710
10770959
10854095
10861291
10923040
10987650
11012875
11058904
11106764
11113628
11115377
11140688
11216660
11274246
11316854
11406351
11414761
11571556
11581269
11691639
11698076
11728985
11752017
11836366
11857740
11891195
11901144
11912216
11961010
12007403
12048202
12220456
12482949
12665801
12819240
12946628
14596619
14718571
15001556
15060061
15087466
15146197
15231748
15284290
15326289
15382167
15466861
15548533
15563610
15623513
15692563
15738054
15748886
15780076
15870383
16014040
16038619
16215947
16219758
16311606
16319969
16565258
16741147
16767665
16778383
16790429
17081983
17090781
17102641
17110338
17371830
17396115
17437137
17437318
17451746
17474147
17525154
17540339
17574468
17671167
17890878
17980165
18060739
18263686
18283041
18289888
18298949
18417541
18422703
18566106
18632682
18791038
18922886
19011111
19135240
19158352
19158373
19165178
19194729
19285554
19331813
19443633
19460752
19686598
19759016
19854836
20169078
20201926
20206434
20219615
20301424
20301743
20388565
20557879
20558538
20674666
20808796
20837139
20856870
20923779
20937836
20980620
21048031
21076887
21115670
21142036
21314639
21332816
21694639
21775626
21865467
21867693
21983717
22031115
22034075
22034641
22227580
22237240
22367170
22409330
22426824
22456092
22508176
22570239
22582392
22675472
22872635
23001567
23014991
23390129
23431072
23431742
23439951
23475492
23496908
23567275
23624871
23848298
23850273
23985799
24009235
24250222
24416790
24683199
24694054

Gene Ontology  (GO ID)

Biological Process

GO:0009653  anatomical structure morphogenesis
GO:0048754  branching morphogenesis of a tube
GO:0070588  calcium ion transmembrane transport
GO:0007161  calcium-independent cell-matrix adhesion
GO:0001502  cartilage condensation
GO:0051216  cartilage development
GO:0007050  cell cycle arrest
GO:0007160  cell-matrix adhesion
GO:0042994  cytoplasmic sequestering of transcription factor
GO:0050982  detection of mechanical stimulus
GO:0001892  embryonic placenta development
GO:0048806  genitalia development
GO:0048565  gut development
GO:0007507  heart development
GO:0007156  homophilic cell adhesion
GO:0001701  in utero embryonic development
GO:0007259  JAK-STAT cascade
GO:0001822  kidney development
GO:0001889  liver development
GO:0060428  lung epithelium development
GO:0021915  neural tube development
GO:0007218  neuropeptide signaling pathway
GO:0006807  nitrogen compound metabolic process
GO:0018105  peptidyl-serine phosphorylation
GO:0060674  placenta blood vessel development
GO:0031659  positive regulation of cyclin-dependent protein kinase activity during G1/S
GO:0032092  positive regulation of protein binding
GO:0045944  positive regulation of transcription from RNA polymerase II promoter
GO:0006611  protein export from nucleus
GO:0060236  regulation of mitotic spindle organization
GO:0043588  skin development
GO:0021510  spinal cord development

Cellular Component

GO:0016323  basolateral plasma membrane
GO:0005929  cilium
GO:0005737  cytoplasm
GO:0016021  integral to membrane
GO:0005887  integral to plasma membrane
GO:0031512  motile primary cilium
GO:0005634  nucleus
GO:0002133  polycystin complex

Molecular Function

GO:0005262  calcium channel activity
GO:0030246  carbohydrate binding
GO:0005261  cation channel activity
GO:0005515  protein binding
GO:0019904  protein domain specific binding
GO:0019901  protein kinase binding