SKIC8 (SKI8 subunit of superkiller complex)

Gene

• Entrez ID: 80349
• Gene name: SKI8 subunit of superkiller complex
• Gene symbol: SKIC8
• Synonyms (NCBI Gene): REC14, SKI8, WDR61
• Chromosome: 15
• Chromosome location: 15q25.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024165	hsa-miR-221-3p	Sequencing	20371350
MIRT051788	hsa-let-7c-5p	CLASH	23622248
MIRT036059	hsa-miR-1301-3p	CLASH	23622248
MIRT1491214	hsa-miR-4310	CLIP-seq
MIRT1491215	hsa-miR-548a-5p	CLIP-seq
MIRT1491216	hsa-miR-548ab	CLIP-seq
MIRT1491217	hsa-miR-548ak	CLIP-seq
MIRT1491218	hsa-miR-548b-5p	CLIP-seq
MIRT1491219	hsa-miR-548c-5p	CLIP-seq
MIRT1491220	hsa-miR-548d-5p	CLIP-seq
MIRT1491221	hsa-miR-548h	CLIP-seq
MIRT1491222	hsa-miR-548i	CLIP-seq
MIRT1491223	hsa-miR-548j	CLIP-seq
MIRT1491224	hsa-miR-548k	CLIP-seq
MIRT1491225	hsa-miR-548l	CLIP-seq
MIRT1491226	hsa-miR-548w	CLIP-seq
MIRT1491227	hsa-miR-548y	CLIP-seq
MIRT1491228	hsa-miR-559	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000791	Component	Euchromatin	IDA	16024656
GO:0005515	Function	Protein binding	IPI	16024656, 20178742, 24981860, 25959826, 26496610, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	16024656, 18445686
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	16024656, 18445686
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	20178742
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016593	Component	Cdc73/Paf1 complex	IBA
GO:0016593	Component	Cdc73/Paf1 complex	IDA	20178742
GO:0016593	Component	Cdc73/Paf1 complex	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IDA	20541477
GO:0055087	Component	Ski complex	IDA	16024656, 32006463, 35120588
GO:0070478	Process	Nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay	IDA	32006463, 35120588
GO:0072344	Process	Rescue of stalled ribosome	IDA	32006463

Other IDs

• MIM: 609540
• HGNC: 30300
• e!Ensembl: ENSG00000140395

Protein

• UniProt ID: Q9GZS3
• Protein name: Superkiller complex protein 8 (Ski8) (Meiotic recombination REC14 protein homolog) (WD repeat-containing protein 61) [Cleaved into: Superkiller complex protein 8, N-terminally processed (WD repeat-containing protein 61, N-terminally processed)]
• Protein function: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency (PubMed:16307923, PubMed:19952111, Pu
• PDB: 3OW8, 6GMH, 6TED, 7OOP, 7OPC, 7OPD, 7QDR, 7QDS, 7QDY, 7QDZ, 7UNC, 7UND, 8A3Y, 9EGX, 9EGY, 9EGZ, 9EH0, 9EH1, 9EH2, 9G8O, 9G8Q, 9G8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	6 → 48	WD domain, G-beta repeat	Repeat
  PF00400	WD40	54 → 92	WD domain, G-beta repeat	Repeat
  PF00400	WD40	180 → 218	WD domain, G-beta repeat	Repeat
  PF00400	WD40	222 → 260	WD domain, G-beta repeat	Repeat
  PF00400	WD40	264 → 302	WD domain, G-beta repeat	Repeat

• Sequence:

  MTNQYGILFKQEQAHDDAIWSVAWGTNKKENSETVVTGSLDDLVKVWKWRDERLDLQWSL
  EGHQLGVVSVDISHTLPIAASSSLDAHIRLWDLENGKQIKSIDAGPVDAWTLAFSPDSQY
  LATGTHVGKVNIFGVESGKKEYSLDTRGKFILSIAYSPDGKYLASGAIDGIINIFDIATG
  KLLHTLEGHAMPIRSLTFSPDSQLLVTASDDGYIKIYDVQHANLAGTLSGHASWVLNVAF
  CPDDTHFVSSSSDKSVKVWDVGTRTCVHTFFDHQDQVWGVKYNGNGSKIVSVGDDQEIHI
  YDCPI

• Sequence length: 305

Pathways

KEGG:

RNA degradation

Reactome:

Formation of RNA Pol II elongation complex
mRNA decay by 3' to 5' exoribonuclease
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
E3 ubiquitin ligases ubiquitinate target proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32218699	Associate	★☆☆☆☆ Found in Text Mining only