Property Summary

NCBI Gene PubMed Count 19
PubMed Score 6.13
PubTator Score 133.24

Knowledge Summary

Patent

No data available

Expression

Gene RIF (9)

PMID Text
25888396 calcium-responsive transactivator and certain other amyotrophic lateral sclerosis-linked proteins share several features implicated in amyotrophic lateral sclerosis pathogenesis
24360741 Its mutation causes amyotrophic lateral sclerosis.
23708140 This study demonistrated that CREST mutations inhibited activity-dependent neurite outgrowth in primary neurons, and CREST associated with the ALS protein FUS.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19724895 Observational study of gene-disease association. (HuGE Navigator)
16484776 SS18 and SS18L1 genes map within co-linear DNA segments that may have evolved through a relatively recent genomic duplication event.
15866867 analysis of the CREST domain that inhibits dendritic growth in cultured neurons
12696068 A synovial sarcoma of classic morphology contained a novel t(20;X) SS18L1(strong homology to SS18 on Ch20)/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1.

AA Sequence

MSVAFASARPRGKGEVTQQTIQKMLDENHHLIQCILEYQSKGKTAECTQYQQILHRNLVYLATIADSNQN      1 - 70
MQSLLPAPPTQNMNLGPGALTQSGSSQGLHSQGSLSDAISTGLPPSSLLQGQIGNGPSHVSMQQTAPNTL     71 - 140
PTTSMSISGPGYSHAGPASQGVPMQGQGTIGNYVSRTNINMQSNPVSMMQQQAATSHYSSAQGGSQHYQG    141 - 210
QSSIAMMGQGSQGSSMMGQRPMAPYRPSQQGSSQQYLGQEEYYGEQYSHSQGAAEPMGQQYYPDGHGDYA    211 - 280
YQQSSYTEQSYDRSFEESTQHYYEGGNSQYSQQQAGYQQGAAQQQTYSQQQYPSQQSYPGQQQGYGSAQG    281 - 350
APSQYPGYQQGQGQQYGSYRAPQTAPSAQQQRPYGYEQGQYGNYQQ                            351 - 396
//

Text Mined References (21)

PMID Year Title
25888396 2015 Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis.
25416956 2014 A proteome-scale map of the human interactome network.
24360741 2014 Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.
23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.
21516116 2011 Next-generation sequencing to generate interactome datasets.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19724895 2009 Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
18331714 2008 sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1.
16484776 2006 Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci.
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