Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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26750 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Ribosomal protein S6 kinase C1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RPS6KC1 |
SynonymsGene synonyms aliases
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RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q32.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signali |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs61751035 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q96S38 |
Protein name |
Ribosomal protein S6 kinase delta-1 (S6K-delta-1) (EC 2.7.11.1) (52 kDa ribosomal protein S6 kinase) (Ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein) (SPHK1-binding protein) |
Protein function |
May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell (PubMed:12077123). Plays a role in the recruitment of PRDX3 to early endosomes (PubMed:15750338). {ECO:0000269|PubMed:12077123, ECO:0000269|PubMed:157 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00787 |
PX |
40 → 127 |
PX domain |
Domain |
PF04212 |
MIT |
240 → 305 |
MIT (microtubule interacting and transport) domain |
Domain |
PF00069 |
Pkinase |
874 → 1056 |
Protein kinase domain |
Domain |
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Sequence |
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Sequence length |
1066 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
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Infiltrating duct carcinoma of female breast |
Infiltrating duct carcinoma of female breast |
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Ovarian adenocarcinoma |
Ovarian Mucinous Adenocarcinoma |
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Periventricular leukomalacia |
Leukomalacia, Periventricular |
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