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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9652
Gene name Gene Name - the full gene name approved by the HGNC.	SKI3 subunit of superkiller complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SKIC3
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA0372, Ski3, THES, TTC37
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q15

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs116690692	T>C,G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs138144509	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs140800288	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs143346257	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs370373017	C>A,G,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs376083373	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs387907147	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs387907148	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs534237033	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs570910902	C>T	Likely-pathogenic	Splice donor variant
rs746874042	AAAAA>-,AAAA	Pathogenic	Intron variant
rs752052886	A>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs771031428	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs774405964	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs776321294	G>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1060499527	C>-	Pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1060499528	C>G	Pathogenic	Splice donor variant
rs1269943135	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554050112	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1580193628	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1580193741	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1582849711	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1582849807	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016132	hsa-miR-421	Sequencing	20371350
MIRT020839	hsa-miR-155-5p	Proteomics	18668040
MIRT023848	hsa-miR-1-3p	Proteomics	18668040
MIRT049507	hsa-miR-92a-3p	CLASH	23622248
MIRT038611	hsa-miR-186-3p	CLASH	23622248
MIRT619481	hsa-miR-3617-5p	HITS-CLIP	23824327
MIRT619480	hsa-miR-641	HITS-CLIP	23824327
MIRT038611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT619478	hsa-miR-3176	HITS-CLIP	23824327
MIRT619477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT565185	hsa-miR-4475	PAR-CLIP	20371350
MIRT565180	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT565184	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT565183	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT565182	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT565181	hsa-miR-6892-5p	PAR-CLIP	20371350
MIRT565180	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT565179	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT565178	hsa-miR-5701	PAR-CLIP	20371350
MIRT565177	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT439381	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT439379	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439380	hsa-miR-544a	HITS-CLIP	24374217
MIRT439381	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT439379	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439380	hsa-miR-544a	HITS-CLIP	24374217
MIRT619481	hsa-miR-3617-5p	HITS-CLIP	23824327
MIRT619480	hsa-miR-641	HITS-CLIP	23824327
MIRT038611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619479	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT619478	hsa-miR-3176	HITS-CLIP	23824327
MIRT619477	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT565185	hsa-miR-4475	PAR-CLIP	20371350
MIRT565180	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT565184	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT565183	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT565182	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT565181	hsa-miR-6892-5p	PAR-CLIP	20371350
MIRT565180	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT565179	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT565178	hsa-miR-5701	PAR-CLIP	20371350
MIRT565177	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT2138682	hsa-miR-1264	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16024656
GO:0005634	Component	Nucleus	IDA	16024656
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	16024656
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0034427	Process	Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'	IBA	21873635
GO:0035327	Component	Transcriptionally active chromatin	IDA	16024656
GO:0043928	Process	Exonucleolytic catabolism of deadenylated mRNA	TAS
GO:0055087	Component	Ski complex	IBA	21873635
GO:0055087	Component	Ski complex	IDA	16024656

MIM	HGNC	e!Ensembl
614589	23639	ENSG00000198677

Protein

UniProt ID

Q6PGP7

Protein name

Superkiller complex protein 3 (Ski3) (Tetratricopeptide repeat protein 37) (TPR repeat protein 37) (Tricho-hepatic-enteric syndrome protein) (Thespin)

Protein function

Component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways (PubMed:16024656, PubMed:32006463, PubMed:35120588). The SKI complex catalyzes mRNA extraction from 80

PDB

7QDR , 7QDS , 7QDY , 7QDZ , 9G8O , 9G8Q , 9G8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13181	TPR_8	40 → 73	Tetratricopeptide repeat	Repeat
PF13432	TPR_16	391 → 450		Family
PF13432	TPR_16	568 → 632		Family
PF13181	TPR_8	861 → 894	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	1400 → 1433	Tetratricopeptide repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver. {ECO:0000269|PubMed:21120949}.

Sequence

MSSKEVKTALKSARDAIRNKEYKEALKHCKTVLKQEKNNYNAWVFIGVAAAELEQPDQAQ
SAYKKAAELEPDQLLAWQGLANLYEKYNHINAKDDLPGVYQKLLDLYESVDKQKWCDVCK
KLVDLYYQEKKHLEVARTWHKLIKTRQEQGAENEELHQLWRKLTQFLAESTEDQNNETQQ
LLFTAFENALGLSDKIPSEDHQVLYRHFIQSLSKFPHESARLKKACEGMINIYPTVQYPL
EVLCLHLIESGNLTDEGQQYCCRLVEMDSKSGPGLIGLGIKALQDKKYEDAVRNLTEGLK
ESPVCTSGWYHLAEAQVKMHRPKEAVLSCSQALKIVDNLGASGNSLYQRNLCLHLKAEAL
IKLSDYDSSEEAIRTLDQISDADNIPGLLVLKSLAYRNKGSFDEAAKIMEDLLSSYPDLA
EVHALEALIHFTKKDYLQAEKCFQRALEKDTEVAEYHYQLGLTYWFMGEETRKDKTKALT
HFLKAARLDTYMGKVFCYLGHYYRDVVGDKNRARGCYRKAFELDDTDAESGAAAVDLSVE
LEDMEMALAILTTVTQKASAGTAKWAWLRRGLYYLKAGQHSQAVADLQAALRADPKDFNC
WESLGEAYLSRGGYTTALKSFTKASELNPESIYSVFKVAAIQQILGKYKEAVAQYQMIIK
KKEDYVPALKGLGECHLMMAKAALVDYLDGKAVDYIEKALEYFTCALQHRADVSCLWKLA
GDACTCLYAVAPSKVNVHVLGVLLGQKEGKQVLKKNELLHLGGRCYGRALKLMSTSNTWC
DLGINYYRQAQHLAETGSNMNDLKELLEKSLHCLKKAVRLDSNNHLYWNALGVVACYSGI
GNYALAQHCFIKSIQSEQINAVAWTNLGVLYLTNENIEQAHEAFKMAQSLDPSYLMCWIG
QALIAEAVGSYDTMDLFRHTTELNMHTEGALGYAYWVCTTLQDKSNRETELYQYNILQMN
AIPAAQVILNKYVERIQNYAPAFTMLGYLNEHLQLKKEAANAYQRAILLLQTAEDQDTYN
VAIRNYGRLLCSTGEYDKAIQAFKSTPLEVLEDIIGFALALFMKGLYKESSKAYERALSI
VESEQDKAHILTALAITEYKQGKTDVAKTLLFKCSILKEPTTESLQALCALGLAMQDATL
SKAALNELLKHIKHKDSNYQRCLLTSAIYALQGRSVAVQKQISKAVHSNPGDPALWSLLS
RVVAQYAQRNAKGGVVAGNVAHILDSNHGKKALLYTAVNQLAMGSSSAEDEKNTALKTIQ
KAALLSPGDPAIWAGLMAACHADDKLALVNNTQPKRIDLYLALLSAVSASIKDEKFFENY
NQSLEKWSLSQAVTGLIDTGRISEAETLCTKNLKSNPDQPAVILLLRQVQCKPLLESQKP
LPDAVLEELQKTVMSNSTSVPAWQWLAHVYQSQGMMRAAEMCYRKSLQLASQRGSWSGKL
SSLLRLALLALKVCMANISNDHWPSLVQEATTEALKLCFCPLAVLLQALLQFKRKMGARE
TRRLLERVVYQPGYPKSIASTARWYLLRHLYAKDDYELIDVLVNNAKTHGDTRALELNQR
LSSQ

Sequence length

1564

Interactions

View interactions

	KEGG		Reactome
	RNA degradation		mRNA decay by 3' to 5' exoribonuclease

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hepatoblastoma	Hepatoblastoma	rs137854578, rs28934573, rs121913412
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Trichohepatoenteric syndrome	Trichohepatoenteric Syndrome, TRICHOHEPATOENTERIC SYNDROME 1	rs751026211, rs1582171003, rs1562659544, rs1060499527, rs387907147, rs387907148, rs1060499528, rs746874042, rs370373017, rs534237033, rs746709222, rs200818962, rs776321294, rs781763471, rs768503878 View all (11 more)	28292286, 20176027, 23302111, 21120949
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Cirrhosis	Cirrhosis	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Trichohepatoenteric Syndrome	trichohepatoenteric syndrome	GenCC

SKIC3 (SKI3 subunit of superkiller complex)