SKIC2

Protein identityUniProt · HPA

UniProt accession

Q15477

Gene

SKIC2

Ensembl

ENSG00000204351

Chromosome

6

Canonical length

1246 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Mitotic spindle,Cytosol

OverviewNCBI Gene

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1246 residues, UniProt reviewed canonical sequence.

>Q15477|SKIC2
     1  MMETERLVLP PPDPLDLPLR AVELGCTGHW ELLNLPGAPE SSLPHGLPPC APDLQQEAEQ
    61  LFLSSPAWLP LHGVEHSARK WQRKTDPWSL LAVLGAPVPS DLQAQRHPTT GQILGYKEVL
   121  LENTNLSATT SLSLRRPPGP ASQSLWGNPT QYPFWPGGMD EPTITDLNTR EEAEEEIDFE
   181  KDLLTIPPGF KKGMDFAPKD CPTPAPGLLS LSCMLEPLDL GGGDEDENEA VGQPGGPRGD
   241  TVSASPCSAP LARASSLEDL VLKEASTAVS TPEAPEPPSQ EQWAIPVDAT SPVGDFYRLI
   301  PQPAFQWAFE PDVFQKQAIL HLERHDSVFV AAHTSAGKTV VAEYAIALAQ KHMTRTIYTS
   361  PIKALSNQKF RDFRNTFGDV GLLTGDVQLH PEASCLIMTT EILRSMLYSG SDVIRDLEWV
   421  IFDEVHYIND VERGVVWEEV LIMLPDHVSI ILLSATVPNA LEFADWIGRL KRRQIYVIST
   481  VTRPVPLEHY LFTGNSSKTQ GELFLLLDSR GAFHTKGYYA AVEAKKERMS KHAQTFGAKQ
   541  PTHQGGPAQD RGVYLSLLAS LRTRAQLPVV VFTFSRGRCD EQASGLTSLD LTTSSEKSEI
   601  HLFLQRCLAR LRGSDRQLPQ VLHMSELLNR GLGVHHSGIL PILKEIVEML FSRGLVKVLF
   661  ATETFAMGVN MPARTVVFDS MRKHDGSTFR DLLPGEYVQM AGRAGRRGLD PTGTVILLCK
   721  GRVPEMADLH RMMMGKPSQL QSQFRLTYTM ILNLLRVDAL RVEDMMKRSF SEFPSRKDSK
   781  AHEQALAELT KRLGALEEPD MTGQLVDLPE YYSWGEELTE TQHMIQRRIM ESVNGLKSLS
   841  AGRVVVVKNQ EHHNALGVIL QVSSNSTSRV FTTLVLCDKP LSQDPQDRGP ATAEVPYPDD
   901  LVGFKLFLPE GPCDHTVVKL QPGDMAAITT KVLRVNGEKI LEDFSKRQQP KFKKDPPLAA
   961  VTTAVQELLR LAQAHPAGPP TLDPVNDLQL KDMSVVEGGL RARKLEELIQ GAQCVHSPRF
  1021  PAQYLKLRER MQIQKEMERL RFLLSDQSLL LLPEYHQRVE VLRTLGYVDE AGTVKLAGRV
  1081  ACAMSSHELL LTELMFDNAL STLRPEEIAA LLSGLVCQSP GDAGDQLPNT LKQGIERVRA
  1141  VAKRIGEVQV ACGLNQTVEE FVGELNFGLV EVVYEWARGM PFSELAGLSG TPEGLVVRCI
  1201  QRLAEMCRSL RGAARLVGEP VLGAKMETAA TLLRRDIVFA ASLYTQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SKIC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SKIC2.

Disease | AllUniProt

Conditions SKIC2 is implicated in, by any mechanism.

• Trichohepatoenteric syndrome 2 (THES2) MIM:614602

Disease | GeneticClinVar

143 pathogenic / likely-pathogenic of 1,237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Trichohepatoenteric syndrome 2
• Trichohepatoenteric syndrome
• SKIC2-related disorder
• Ovarian serous cystadenocarcinoma
• Gastric cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.88

gnomAD pLI

0

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay
• nuclear-transcribed mRNA catabolic process, non-stop decay
• rescue of stalled ribosome

Molecular functions

• 3'-5' RNA helicase activity
• ATP binding
• ATP hydrolysis activity
• RNA binding
• RNA helicase activity

Cellular components

• cytosol
• nucleus
• Ski complex

Protein domainsUniProt · Pfam · InterPro

• Helicase, C-terminal domain-like
• DEAD/DEAH-box helicase domain
• ATP-dependent RNA helicase Ski2/MTR4, C-terminal
• Helicase superfamily 1/2, ATP-binding domain
• Circadian oscillator component FRH-like
• Exosome RNA helicase MTR4-like, beta-barrel domain
• P-loop containing nucleoside triphosphate hydrolase
• Exosome RNA helicase MTR4-like, stalk
• ATP-dependent RNA helicase SUPV3-like
• DEAD/DEAH box helicase
• Helicase conserved C-terminal domain
• DSHCT (NUC185) domain
• Mtr4-like, beta-barrel domain
• Exosome RNA helicase MTR4-like, stalk
• Ski2, N-terminal domain
• Ski2 N-terminal region

KeywordsUniProt

• ATP-binding
• Cytoplasm
• Helicase
• Hydrolase
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• RNA-binding

InteractionsUniProt · HPA

Protein binding partners of SKIC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ANGEL1
• SKIC8