Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26750
Gene name Gene Name - the full gene name approved by the HGNC.	Ribosomal protein S6 kinase C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RPS6KC1
Synonyms (NCBI Gene) Gene synonyms aliases	RPK118, RSKL1, S6K-delta-1, S6PKh1, humS6PKh1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q32.3
Summary Summary 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

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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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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
MIRT1318860	hsa-miR-181c	CLIP-seq
MIRT1318861	hsa-miR-181d	CLIP-seq
MIRT1318862	hsa-miR-22	CLIP-seq
MIRT1318863	hsa-miR-2276	CLIP-seq
MIRT1318864	hsa-miR-3120-3p	CLIP-seq
MIRT1318865	hsa-miR-3192	CLIP-seq
MIRT1318866	hsa-miR-323-3p	CLIP-seq
MIRT1318867	hsa-miR-323b-5p	CLIP-seq
MIRT1318868	hsa-miR-3591-3p	CLIP-seq
MIRT1318869	hsa-miR-3649	CLIP-seq
MIRT1318870	hsa-miR-3691-5p	CLIP-seq
MIRT1318871	hsa-miR-3942-3p	CLIP-seq
MIRT1318872	hsa-miR-421	CLIP-seq
MIRT1318873	hsa-miR-4262	CLIP-seq
MIRT1318874	hsa-miR-4272	CLIP-seq
MIRT1318875	hsa-miR-4314	CLIP-seq
MIRT1318876	hsa-miR-4491	CLIP-seq
MIRT1318877	hsa-miR-4495	CLIP-seq
MIRT1318878	hsa-miR-4528	CLIP-seq
MIRT1318879	hsa-miR-4646-5p	CLIP-seq
MIRT1318880	hsa-miR-4657	CLIP-seq
MIRT1318881	hsa-miR-4659a-5p	CLIP-seq
MIRT1318882	hsa-miR-4659b-5p	CLIP-seq
MIRT1318883	hsa-miR-4711-5p	CLIP-seq
MIRT1318884	hsa-miR-4752	CLIP-seq
MIRT1318885	hsa-miR-4769-3p	CLIP-seq
MIRT1318886	hsa-miR-4772-3p	CLIP-seq
MIRT1318887	hsa-miR-4789-5p	CLIP-seq
MIRT1318888	hsa-miR-545	CLIP-seq
MIRT1318889	hsa-miR-548m	CLIP-seq
MIRT1318890	hsa-miR-548p	CLIP-seq
MIRT1318891	hsa-miR-552	CLIP-seq
MIRT1318892	hsa-miR-1252	CLIP-seq
MIRT1318893	hsa-miR-2117	CLIP-seq
MIRT1318894	hsa-miR-219-2-3p	CLIP-seq
MIRT1318895	hsa-miR-337-3p	CLIP-seq
MIRT1318896	hsa-miR-3679-3p	CLIP-seq
MIRT1318897	hsa-miR-3685	CLIP-seq
MIRT1318898	hsa-miR-384	CLIP-seq
MIRT1318899	hsa-miR-4273	CLIP-seq
MIRT1318900	hsa-miR-4635	CLIP-seq
MIRT1318901	hsa-miR-4662a-5p	CLIP-seq
MIRT1318902	hsa-miR-4677-5p	CLIP-seq
MIRT1318903	hsa-miR-4680-5p	CLIP-seq
MIRT1318904	hsa-miR-4753-3p	CLIP-seq
MIRT1318905	hsa-miR-526b	CLIP-seq
MIRT2094815	hsa-miR-1253	CLIP-seq
MIRT2094816	hsa-miR-2054	CLIP-seq
MIRT1318894	hsa-miR-219-2-3p	CLIP-seq
MIRT2094817	hsa-miR-30a	CLIP-seq
MIRT2094818	hsa-miR-30b	CLIP-seq
MIRT2094819	hsa-miR-30c	CLIP-seq
MIRT2094820	hsa-miR-30d	CLIP-seq
MIRT2094821	hsa-miR-30e	CLIP-seq
MIRT2094822	hsa-miR-3611	CLIP-seq
MIRT1318896	hsa-miR-3679-3p	CLIP-seq
MIRT2094823	hsa-miR-383	CLIP-seq
MIRT2094824	hsa-miR-3907	CLIP-seq
MIRT2094825	hsa-miR-3919	CLIP-seq
MIRT2094826	hsa-miR-4699-5p	CLIP-seq
MIRT2094827	hsa-miR-643	CLIP-seq
MIRT2094828	hsa-miR-889	CLIP-seq
MIRT2094815	hsa-miR-1253	CLIP-seq
MIRT2094822	hsa-miR-3611	CLIP-seq
MIRT2094823	hsa-miR-383	CLIP-seq
MIRT2094825	hsa-miR-3919	CLIP-seq
MIRT2094826	hsa-miR-4699-5p	CLIP-seq
MIRT2094828	hsa-miR-889	CLIP-seq
MIRT2094815	hsa-miR-1253	CLIP-seq
MIRT2094822	hsa-miR-3611	CLIP-seq
MIRT2094823	hsa-miR-383	CLIP-seq
MIRT2094825	hsa-miR-3919	CLIP-seq
MIRT2094826	hsa-miR-4699-5p	CLIP-seq
MIRT2614795	hsa-miR-105	CLIP-seq
MIRT2614796	hsa-miR-1206	CLIP-seq
MIRT1318856	hsa-miR-1208	CLIP-seq
MIRT2614797	hsa-miR-122	CLIP-seq
MIRT2614798	hsa-miR-1237	CLIP-seq
MIRT2614799	hsa-miR-1248	CLIP-seq
MIRT2094815	hsa-miR-1253	CLIP-seq
MIRT2614800	hsa-miR-129-5p	CLIP-seq
MIRT1318858	hsa-miR-181a	CLIP-seq
MIRT1318859	hsa-miR-181b	CLIP-seq
MIRT1318860	hsa-miR-181c	CLIP-seq
MIRT1318861	hsa-miR-181d	CLIP-seq
MIRT2614801	hsa-miR-204	CLIP-seq
MIRT2094816	hsa-miR-2054	CLIP-seq
MIRT2614802	hsa-miR-211	CLIP-seq
MIRT1318893	hsa-miR-2117	CLIP-seq
MIRT1318894	hsa-miR-219-2-3p	CLIP-seq
MIRT1318862	hsa-miR-22	CLIP-seq
MIRT2614803	hsa-miR-2467-3p	CLIP-seq
MIRT2094817	hsa-miR-30a	CLIP-seq
MIRT2094818	hsa-miR-30b	CLIP-seq
MIRT2094819	hsa-miR-30c	CLIP-seq
MIRT2094820	hsa-miR-30d	CLIP-seq
MIRT2094821	hsa-miR-30e	CLIP-seq
MIRT1318864	hsa-miR-3120-3p	CLIP-seq
MIRT2614804	hsa-miR-3126-5p	CLIP-seq
MIRT2614805	hsa-miR-3152-3p	CLIP-seq
MIRT1318865	hsa-miR-3192	CLIP-seq
MIRT1318866	hsa-miR-323-3p	CLIP-seq
MIRT1318895	hsa-miR-337-3p	CLIP-seq
MIRT2614806	hsa-miR-3591-5p	CLIP-seq
MIRT2094822	hsa-miR-3611	CLIP-seq
MIRT1318869	hsa-miR-3649	CLIP-seq
MIRT1318896	hsa-miR-3679-3p	CLIP-seq
MIRT1318897	hsa-miR-3685	CLIP-seq
MIRT2094823	hsa-miR-383	CLIP-seq
MIRT1318898	hsa-miR-384	CLIP-seq
MIRT2094825	hsa-miR-3919	CLIP-seq
MIRT2614807	hsa-miR-3941	CLIP-seq
MIRT1318872	hsa-miR-421	CLIP-seq
MIRT1318873	hsa-miR-4262	CLIP-seq
MIRT1318874	hsa-miR-4272	CLIP-seq
MIRT1318899	hsa-miR-4273	CLIP-seq
MIRT2614808	hsa-miR-4280	CLIP-seq
MIRT2614809	hsa-miR-4287	CLIP-seq
MIRT1318875	hsa-miR-4314	CLIP-seq
MIRT2614810	hsa-miR-4419a	CLIP-seq
MIRT2614811	hsa-miR-4433	CLIP-seq
MIRT2614812	hsa-miR-4477a	CLIP-seq
MIRT1318877	hsa-miR-4495	CLIP-seq
MIRT2614813	hsa-miR-4503	CLIP-seq
MIRT2614814	hsa-miR-4510	CLIP-seq
MIRT2614815	hsa-miR-4517	CLIP-seq
MIRT2614816	hsa-miR-4524	CLIP-seq
MIRT1318878	hsa-miR-4528	CLIP-seq
MIRT1318879	hsa-miR-4646-5p	CLIP-seq
MIRT1318881	hsa-miR-4659a-5p	CLIP-seq
MIRT1318882	hsa-miR-4659b-5p	CLIP-seq
MIRT2614817	hsa-miR-466	CLIP-seq
MIRT1318901	hsa-miR-4662a-5p	CLIP-seq
MIRT2614818	hsa-miR-4672	CLIP-seq
MIRT1318902	hsa-miR-4677-5p	CLIP-seq
MIRT2614819	hsa-miR-4684-3p	CLIP-seq
MIRT2614820	hsa-miR-4685-3p	CLIP-seq
MIRT2614821	hsa-miR-4690-5p	CLIP-seq
MIRT2094826	hsa-miR-4699-5p	CLIP-seq
MIRT2614822	hsa-miR-4711-3p	CLIP-seq
MIRT1318883	hsa-miR-4711-5p	CLIP-seq
MIRT2614823	hsa-miR-4722-5p	CLIP-seq
MIRT2614824	hsa-miR-4731-3p	CLIP-seq
MIRT1318904	hsa-miR-4753-3p	CLIP-seq
MIRT2614825	hsa-miR-4755-5p	CLIP-seq
MIRT1318885	hsa-miR-4769-3p	CLIP-seq
MIRT2614826	hsa-miR-4773	CLIP-seq
MIRT2614827	hsa-miR-4775	CLIP-seq
MIRT2614828	hsa-miR-4778-3p	CLIP-seq
MIRT2614829	hsa-miR-4785	CLIP-seq
MIRT1318887	hsa-miR-4789-5p	CLIP-seq
MIRT2614830	hsa-miR-4795-3p	CLIP-seq
MIRT2614831	hsa-miR-4801	CLIP-seq
MIRT2614832	hsa-miR-4802-3p	CLIP-seq
MIRT1318888	hsa-miR-545	CLIP-seq
MIRT1318889	hsa-miR-548m	CLIP-seq
MIRT1318890	hsa-miR-548p	CLIP-seq
MIRT2614833	hsa-miR-549	CLIP-seq
MIRT1318891	hsa-miR-552	CLIP-seq
MIRT2614834	hsa-miR-600	CLIP-seq
MIRT2614835	hsa-miR-623	CLIP-seq
MIRT2094827	hsa-miR-643	CLIP-seq
MIRT2094828	hsa-miR-889	CLIP-seq
MIRT2614796	hsa-miR-1206	CLIP-seq
MIRT2614797	hsa-miR-122	CLIP-seq
MIRT2094815	hsa-miR-1253	CLIP-seq
MIRT2614800	hsa-miR-129-5p	CLIP-seq
MIRT1318858	hsa-miR-181a	CLIP-seq
MIRT1318859	hsa-miR-181b	CLIP-seq
MIRT1318860	hsa-miR-181c	CLIP-seq
MIRT1318861	hsa-miR-181d	CLIP-seq
MIRT2614801	hsa-miR-204	CLIP-seq
MIRT2094816	hsa-miR-2054	CLIP-seq
MIRT2614802	hsa-miR-211	CLIP-seq
MIRT1318893	hsa-miR-2117	CLIP-seq
MIRT1318894	hsa-miR-219-2-3p	CLIP-seq
MIRT2614803	hsa-miR-2467-3p	CLIP-seq
MIRT2094817	hsa-miR-30a	CLIP-seq
MIRT2094818	hsa-miR-30b	CLIP-seq
MIRT2094819	hsa-miR-30c	CLIP-seq
MIRT2094820	hsa-miR-30d	CLIP-seq
MIRT2094821	hsa-miR-30e	CLIP-seq
MIRT1318864	hsa-miR-3120-3p	CLIP-seq
MIRT2614804	hsa-miR-3126-5p	CLIP-seq
MIRT2614805	hsa-miR-3152-3p	CLIP-seq
MIRT1318865	hsa-miR-3192	CLIP-seq
MIRT1318866	hsa-miR-323-3p	CLIP-seq
MIRT1318895	hsa-miR-337-3p	CLIP-seq
MIRT2614806	hsa-miR-3591-5p	CLIP-seq
MIRT2094822	hsa-miR-3611	CLIP-seq
MIRT1318869	hsa-miR-3649	CLIP-seq
MIRT1318896	hsa-miR-3679-3p	CLIP-seq
MIRT1318897	hsa-miR-3685	CLIP-seq
MIRT2094823	hsa-miR-383	CLIP-seq
MIRT1318898	hsa-miR-384	CLIP-seq
MIRT2094825	hsa-miR-3919	CLIP-seq
MIRT2614807	hsa-miR-3941	CLIP-seq
MIRT1318872	hsa-miR-421	CLIP-seq
MIRT1318873	hsa-miR-4262	CLIP-seq
MIRT1318874	hsa-miR-4272	CLIP-seq
MIRT1318899	hsa-miR-4273	CLIP-seq
MIRT2614808	hsa-miR-4280	CLIP-seq
MIRT2614809	hsa-miR-4287	CLIP-seq
MIRT1318875	hsa-miR-4314	CLIP-seq
MIRT2614810	hsa-miR-4419a	CLIP-seq
MIRT2614811	hsa-miR-4433	CLIP-seq
MIRT2614812	hsa-miR-4477a	CLIP-seq
MIRT2614813	hsa-miR-4503	CLIP-seq
MIRT2614814	hsa-miR-4510	CLIP-seq
MIRT2614815	hsa-miR-4517	CLIP-seq
MIRT2614816	hsa-miR-4524	CLIP-seq
MIRT1318878	hsa-miR-4528	CLIP-seq
MIRT1318879	hsa-miR-4646-5p	CLIP-seq
MIRT2614817	hsa-miR-466	CLIP-seq
MIRT1318901	hsa-miR-4662a-5p	CLIP-seq
MIRT2614818	hsa-miR-4672	CLIP-seq
MIRT1318902	hsa-miR-4677-5p	CLIP-seq
MIRT2614819	hsa-miR-4684-3p	CLIP-seq
MIRT2614820	hsa-miR-4685-3p	CLIP-seq
MIRT2614821	hsa-miR-4690-5p	CLIP-seq
MIRT2094826	hsa-miR-4699-5p	CLIP-seq
MIRT2614822	hsa-miR-4711-3p	CLIP-seq
MIRT1318883	hsa-miR-4711-5p	CLIP-seq
MIRT2614823	hsa-miR-4722-5p	CLIP-seq
MIRT2614824	hsa-miR-4731-3p	CLIP-seq
MIRT1318904	hsa-miR-4753-3p	CLIP-seq
MIRT2614825	hsa-miR-4755-5p	CLIP-seq
MIRT2614826	hsa-miR-4773	CLIP-seq
MIRT2614827	hsa-miR-4775	CLIP-seq
MIRT2614828	hsa-miR-4778-3p	CLIP-seq
MIRT2614829	hsa-miR-4785	CLIP-seq
MIRT1318887	hsa-miR-4789-5p	CLIP-seq
MIRT2614830	hsa-miR-4795-3p	CLIP-seq
MIRT2614831	hsa-miR-4801	CLIP-seq
MIRT2614832	hsa-miR-4802-3p	CLIP-seq
MIRT2614833	hsa-miR-549	CLIP-seq
MIRT1318891	hsa-miR-552	CLIP-seq
MIRT2614834	hsa-miR-600	CLIP-seq
MIRT2614835	hsa-miR-623	CLIP-seq
MIRT2094827	hsa-miR-643	CLIP-seq
MIRT2094828	hsa-miR-889	CLIP-seq

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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
GO:0005769	Component	Early endosome	IBA	21873635
GO:0005769	Component	Early endosome	IDA	15750338
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007165	Process	Signal transduction	TAS	10552933
GO:0016020	Component	Membrane	IEA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

MIM	HGNC	e!Ensembl
617517	10439	ENSG00000136643

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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis, skeletal muscle, brain, heart, placenta, kidney and liver and weakly expressed in thymus, small intestine, lung and colon. {ECO:0000269|PubMed:12077123}.

Sequence

MTSYRERSADLARFYTVTEPQRHPRGYTVYKVTARVVSRRNPEDVQEIIVWKRYSDFKKL
HKELWQIHKNLFRHSELFPPFAKGIVFGRFDETVIEERRQCAEDLLQFSANIPALYNSKQ
LEDFFKGGIINDSSELIGPAEAHSDSLIDTFPECSTEGFSSDSDLVSLTVDVDSLAELDD
GMASNQNSPIRTFGLNLSSDSSALGAVASDSEQSKTEEERESRSLFPGSLKPKLGKRDYL
EKAGELIKLALKKEEEDDYEAASDFYRKGVDLLLEGVQGESSPTRREAVKRRTAEYLMRA
ESISSLYGKPQLDDVSQPPGSLSSRPLWNLRSPAEELKAFRVLGVIDKVLLVMDTRTEQT
FILKGLRKSSEYSRNRKTIIPRCVPNMVCLHKYIISEESVFLVLQHAEGGKLWSYISKFL
NRSPEESFDIKEVKKPTLAKVHLQQPTSSPQDSSSFESRGSDGGSMLKALPLKSSLTPSS
QDDSNQEDDGQDSSPKWPDSGSSSEEECTTSYLTLCNEYGQEKIEPGSLNEEPFMKTEGN
GVDTKAIKSFPAHLAADSDSPSTQLRAHELKFFPNDDPEAVSSPRTSDSLSRSKNSPMEF
FRIDSKDSASELLGLDFGEKLYSLKSEPLKPFFTLPDGDSASRSFNTSESKVEFKAQDTI
SRGSDDSVPVISFKDAAFDDVSGTDEGRPDLLVNLPGELESTREAAAMGPTKFTQTNIGI
IENKLLEAPDVLCLRLSTEQCQAHEEKGIEELSDPSGPKSYSITEKHYAQEDPRMLFVAA
VDHSSSGDMSLLPSSDPKFQGLGVVESAVTANNTEESLFRICSPLSGANEYIASTDTLKT
EEVLLFTDQTDDLAKEEPTSLFQRDSETKGESGLVLEGDKEIHQIFEDLDKKLALASRFY
IPEGCIQRWAAEMVVALDALHREGIVCRDLNPNNILLNDRGHIQLTYFSRWSEVEDSCDS
DAIERMYCAPEVGAITEETEACDWWSLGAVLFELLTGKTLVECHPAGINTHTTLNMPECV
SEEARSLIQQLLQFNPLERLGAGVAGVEDIKSHPFFTPVDWAELMR

Sequence length

1066

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Periventricular Leukomalacia	periventricular leukomalacia		GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	29059430
Endometrial Neoplasms	Associate	23028188
Hereditary Breast and Ovarian Cancer Syndrome	Associate	29059430
Neoplasms	Associate	23028188

RPS6KC1 (ribosomal protein S6 kinase C1)