Property Summary

NCBI Gene PubMed Count 14
Grant Count 2
R01 Count 2
Funding $115,246.8
PubMed Score 10.83
PubTator Score 5.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
breast carcinoma -1.200 0.001
fibroadenoma -1.200 0.024
pituitary cancer 1.100 0.000

Synonym

Accession Q68DC2 A0SE62 Q5VSL0 Q5VSL2 Q5VSL3 Q5VSL4 Q68DB8 Q6P2R2 Q8N9L6 Q96D62
Symbols PKDR1
SAMD6
NPHP16
ANKRD14

Gene

 Grant Application (2)

PDB

4NL9  

Gene RIF (5)

PMID Text
24998259 Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can bind to one end of the polymer; study presents crystal structures of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex, revealing the molecular details of their association.
24610927 Data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an nephronophthisis-like phenotype in chronic kidney disease.
23793029 ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
18978678 Observational study of gene-disease association. (HuGE Navigator)
18434273 Location, sequence and structure of the gene encoding human SamCystin have been determined.

AA Sequence

MGEGGLPPAFQLLLRACDQGDTETARRLLEPGAAEPAERGAEPEAGAEPAGAEVAGPGAAAAGAVGAPVP      1 - 70
VDCSDEAGNTALQFAAAGGHEPLVRFLLRRGASVNSRNHYGWSALMQAARFGHVSVAHLLLDHGADVNAQ     71 - 140
NRLGASVLTVASRGGHLGVVKLLLEAGAFVDHHHPSGEQLGLGGSRDEPLDITALMAAIQHGHEAVVRLL    141 - 210
MEWGADPNHAARTVGWSPLMLAALTGRLGVAQQLVEKGANPDHLSVLEKTAFEVALDCKHRDLVDYLDPL    211 - 280
TTVRPKTDEEKRRPDIFHALKMGNFQLVKEIADEDPSHVNLVNGDGATPLMLAAVTGQLALVQLLVERHA    281 - 350
DVDKQDSVHGWTALMQATYHGNKEIVKYLLNQGADVTLRAKNGYTAFDLVMLLNDPDTELVRLLASVCMQ    351 - 420
VNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLSSNQPLPFSDE    421 - 490
PEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPGSTRGEKEDTLLTTMLRNGAPLTRLPSDKLKAVIPP    491 - 560
FLPPSSFELWSSDRSRTRHNGKADPMKTALPQRASRGHPVGGGGTDTTPVRPVKFPSLPRSPASSANSGN    561 - 630
FNHSPHSSGGSSGVGVSRHGGELLNRSGGSIDNVLSQIAAQRKKAAGLLEQKPSHRSSPVGPAPGSSPSE    631 - 700
LPASPAGGSAPVGKKLETSKRPPSGTSTTSKSTSPTLTPSPSPKGHTAESSVSSSSSHRQSKSSGGSSSG    701 - 770
TITDEDELTGILKKLSLEKYQPIFEEQEVDMEAFLTLTDGDLKELGIKTDGSRQQILAAISELNAGKGRE    771 - 840
RQILQETIHNFHSSFESSASNTRAPGNSPCA                                           841 - 871
//

Text Mined References (18)

PMID Year Title
26039630 2015 The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.
25599650 2015 ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning.
24998259 2014 Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.
24610927 2014 Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
23793029 2013 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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