SKIC2
entrez
6499
canonical
uniprot
Q15477
canonical
ensembl
ENSG00000204351
resolver
ensembl
ENSG00000206353
resolver
ensembl
ENSG00000223493
resolver
ensembl
ENSG00000225737
resolver
ensembl
ENSG00000228896
resolver
ensembl
ENSG00000232616
resolver
ensp
ENSP00000364543
resolver
ensp
ENSP00000372827
resolver
ensp
ENSP00000394400
resolver
ensp
ENSP00000399530
resolver
ensp
ENSP00000400626
resolver
ensp
ENSP00000412310
resolver
ensp
ENSP00000420332
resolver
ensp
ENSP00000513454
resolver
ensp
ENSP00000721143
resolver
enst
ENST00000375394
resolver
enst
ENST00000383336
resolver
enst
ENST00000412823
resolver
enst
ENST00000421789
resolver
enst
ENST00000429465
resolver
enst
ENST00000448219
resolver
enst
ENST00000483553
resolver
enst
ENST00000697833
resolver
genesymbol
SKIC2
resolver
genesymbol_syn
DDX13
resolver
genesymbol_syn
SKI2W
resolver
genesymbol_syn
SKIV2
resolver
genesymbol_syn
SKIV2L
resolver
genesymbol_syn
W
resolver
hgnc
HGNC:10898
resolver
uniprot
A0A8V8TLC0
resolver
uniprot
H7C5N0
resolver
uniprot
O15005
resolver
uniprot
Q12902
resolver
uniprot
Q15476
resolver
uniprot
Q5ST66
resolver
uniprot_entry
A0A8V8TLC0_HUMAN
resolver
uniprot_entry
H7C5N0_HUMAN
resolver
uniprot_entry
SKI2_HUMAN
resolver
uniprot_sec
O15005
resolver
uniprot_sec
Q12902
resolver
uniprot_sec
Q15476
resolver
uniprot_sec
Q5ST66
resolver
amino_acid_sequence
MMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQLFLSSPAWLPLHGVEHSARKWQRKTDPWSLLAVLGAPVPSDLQAQRHPTTGQILGYKEVLLENTNLSATTSLSLRRPPGPASQSLWGNPTQYPFWPGGMDEPTITDLNTREEAEEEIDFEKDLLTIPPGFKKGMDFAPKDCPTPAPGLLSLSCMLEPLDLGGGDEDENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLVLKEASTAVSTPEAPEPPSQEQWAIPVDATSPVGDFYRLIPQPAFQWAFEPDVFQKQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQKHMTRTIYTSPIKALSNQKFRDFRNTFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWVIFDEVHYINDVERGVVWEEVLIMLPDHVSIILLSATVPNALEFADWIGRLKRRQIYVISTVTRPVPLEHYLFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAKKERMSKHAQTFGAKQPTHQGGPAQDRGVYLSLLASLRTRAQLPVVVFTFSRGRCDEQASGLTSLDLTTSSEKSEIHLFLQRCLARLRGSDRQLPQVLHMSELLNRGLGVHHSGILPILKEIVEMLFSRGLVKVLFATETFAMGVNMPARTVVFDSMRKHDGSTFRDLLPGEYVQMAGRAGRRGLDPTGTVILLCKGRVPEMADLHRMMMGKPSQLQSQFRLTYTMILNLLRVDALRVEDMMKRSFSEFPSRKDSKAHEQALAELTKRLGALEEPDMTGQLVDLPEYYSWGEELTETQHMIQRRIMESVNGLKSLSAGRVVVVKNQEHHNALGVILQVSSNSTSRVFTTLVLCDKPLSQDPQDRGPATAEVPYPDDLVGFKLFLPEGPCDHTVVKLQPGDMAAITTKVLRVNGEKILEDFSKRQQPKFKKDPPLAAVTTAVQELLRLAQAHPAGPPTLDPVNDLQLKDMSVVEGGLRARKLEELIQGAQCVHSPRFPAQYLKLRERMQIQKEMERLRFLLSDQSLLLLPEYHQRVEVLRTLGYVDEAGTVKLAGRVACAMSSHELLLTELMFDNALSTLRPEEIAALLSGLVCQSPGDAGDQLPNTLKQGIERVRAVAKRIGEVQVACGLNQTVEEFVGELNFGLVEVVYEWARGMPFSELAGLSGTPEGLVVRCIQRLAEMCRSLRGAARLVGEPVLGAKMETAATLLRRDIVFAASLYTQ
uniprot
proteins
disease_involvement
DISEASE: Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. {ECO:0000269|PubMed:22444670, ECO:0000269|PubMed:35120588}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
FUNCTION: Helicase 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 80S ribosomal complexes in the 3'-5' direction and channels mRNA to the cytosolic exosome for degradation (PubMed:32006463, PubMed:35120588). SKI-mediated extraction of mRNA from stalled ribosomes allow binding of the Pelota-HBS1L complex and subsequent ribosome disassembly by ABCE1 for ribosome recycling (PubMed:32006463). In the nucleus, the SKI complex associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C) (PubMed:16024656). May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon (PubMed:40441874). {ECO:0000269|PubMed:16024656, ECO:0000269|PubMed:32006463, ECO:0000269|PubMed:35120588, ECO:0000269|PubMed:40441874}.
uniprot
proteins
mass_dalton
137755
uniprot
proteins
mutagenesis
MUTAGEN 424; /note="E->Q: Abolished helicase activity."; /evidence="ECO:0000269|PubMed:35120588
uniprot
proteins
protein_family
Helicase family
uniprot
proteins
protein_family
SKI2 subfamily
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
16024656
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22444670
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28204585
uniprot
proteins
pubmed
32006463
uniprot
proteins
pubmed
35120588
uniprot
proteins
pubmed
40441874
uniprot
proteins
pubmed
7610041
uniprot
proteins
pubmed
7759100
uniprot
proteins
pubmed
8812450
uniprot
proteins
sequence_length
1246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16024656}. Cytoplasm {ECO:0000269|PubMed:16024656}.
uniprot
proteins