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RPS6KC1 (ribosomal protein S6 kinase C1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26750
Gene nameGene Name - the full gene name approved by the HGNC.
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.
RPS6KC1
SynonymsGene synonyms aliases
RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.3
SummarySummary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs61751035 G>A Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029998 hsa-miR-26b-5p Microarray 19088304
MIRT1318856 hsa-miR-1208 CLIP-seq
MIRT1318857 hsa-miR-1228 CLIP-seq
MIRT1318858 hsa-miR-181a CLIP-seq
MIRT1318859 hsa-miR-181b CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004674 Function Protein serine/threonine kinase activity TAS 10552933
GO:0005515 Function Protein binding IPI 15750338, 32296183
GO:0005524 Function ATP binding IEA
GO:0005764 Component Lysosome IDA
GO:0005768 Component Endosome IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MTSYRERSADLARFYTVTEPQRHPRGYTVYKVTARVVSRRNPEDVQEIIVWKRYSDFKKL
HKELWQIHKNLFRHSELFPPFAKGIVFGRFDETVIEERRQCAEDLLQFSANIPALYNSKQ
LEDFFKG
GIINDSSELIGPAEAHSDSLIDTFPECSTEGFSSDSDLVSLTVDVDSLAELDD
GMASNQNSPIRTFGLNLSSDSSALGAVASDSEQSKTEEERESRSLFPGSLKPKLGKRDYL
EKAGELIKLALKKEEEDDYEAASDFYRKGVDLLLEGVQGESSPTRREAVKRRTAEYLMRA
ESISS
LYGKPQLDDVSQPPGSLSSRPLWNLRSPAEELKAFRVLGVIDKVLLVMDTRTEQT
FILKGLRKSSEYSRNRKTIIPRCVPNMVCLHKYIISEESVFLVLQHAEGGKLWSYISKFL
NRSPEESFDIKEVKKPTLAKVHLQQPTSSPQDSSSFESRGSDGGSMLKALPLKSSLTPSS
QDDSNQEDDGQDSSPKWPDSGSSSEEECTTSYLTLCNEYGQEKIEPGSLNEEPFMKTEGN
GVDTKAIKSFPAHLAADSDSPSTQLRAHELKFFPNDDPEAVSSPRTSDSLSRSKNSPMEF
FRIDSKDSASELLGLDFGEKLYSLKSEPLKPFFTLPDGDSASRSFNTSESKVEFKAQDTI
SRGSDDSVPVISFKDAAFDDVSGTDEGRPDLLVNLPGELESTREAAAMGPTKFTQTNIGI
IENKLLEAPDVLCLRLSTEQCQAHEEKGIEELSDPSGPKSYSITEKHYAQEDPRMLFVAA
VDHSSSGDMSLLPSSDPKFQGLGVVESAVTANNTEESLFRICSPLSGANEYIASTDTLKT
EEVLLFTDQTDDLAKEEPTSLFQRDSETKGESGLVLEGDKEIHQIFEDLDKKLALASRFY
IPEGCIQRWAAEMVVALDALHREGIVCRDLNPNNILLNDRGHIQLTYFSRWSEVEDSCDS
DAIERMYCAPEVGAITEETEACDWWSLGAVLFELLTGKTLVECHPAGINTHTTLNMPECV
SEEARSLIQQLLQFNPLERLGAGVAGVEDIKSHPFF
TPVDWAELMR
Sequence length 1066
Interactions View interactions
Associated diseases
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
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
Unknown
Disease name Disease term dbSNP ID References
Hypoplasia of corpus callosum Hypoplasia of corpus callosum
Infiltrating duct carcinoma of female breast Infiltrating duct carcinoma of female breast
Ovarian adenocarcinoma Ovarian Mucinous Adenocarcinoma
Periventricular leukomalacia Leukomalacia, Periventricular

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