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Protein

Helicase SKI2W

Gene

SKIV2L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi332 – 339ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: GO_Central
  • RNA binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionHelicase, Hydrolase, RNA-binding
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease

Protein family/group databases

MoonDBiQ15477 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Helicase SKI2W (EC:3.6.4.-)
Short name:
Ski2
Alternative name(s):
Helicase-like protein
Short name:
HLP
Gene namesi
Name:SKIV2L
Synonyms:DDX13, SKI2W, SKIV2, W
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000204351.11
HGNCiHGNC:10898 SKIV2L
MIMi600478 gene
neXtProtiNX_Q15477

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Trichohepatoenteric syndrome 2 (THES2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614602
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067721341V → G in THES2. 1 PublicationCorresponds to variant dbSNP:rs281875237EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6499
MalaCardsiSKIV2L
MIMi614602 phenotype
OpenTargetsiENSG00000204351
Orphaneti84064 Syndromic diarrhea
PharmGKBiPA35798

Polymorphism and mutation databases

BioMutaiSKIV2L
DMDMi313104288

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001020911 – 1246Helicase SKI2WAdd BLAST1246

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei245PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15477
MaxQBiQ15477
PaxDbiQ15477
PeptideAtlasiQ15477
PRIDEiQ15477
ProteomicsDBi60607

PTM databases

iPTMnetiQ15477
PhosphoSitePlusiQ15477

Expressioni

Gene expression databases

BgeeiENSG00000204351 Expressed in 225 organ(s), highest expression level in right lobe of liver
CleanExiHS_SKIV2L
ExpressionAtlasiQ15477 baseline and differential
GenevisibleiQ15477 HS

Organism-specific databases

HPAiHPA051959
HPA054419

Interactioni

Subunit structurei

Component of the SKI complex which consists of WDR61, SKIV2L and TTC37.1 Publication

Protein-protein interaction databases

BioGridi112390, 43 interactors
CORUMiQ15477
IntActiQ15477, 19 interactors
STRINGi9606.ENSP00000364543

Structurei

3D structure databases

ProteinModelPortaliQ15477
SMRiQ15477
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini319 – 475Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST157
Domaini585 – 755Helicase C-terminalPROSITE-ProRule annotationAdd BLAST171

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi423 – 426DEVH box4

Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated

Phylogenomic databases

eggNOGiKOG0948 Eukaryota
COG4581 LUCA
GeneTreeiENSGT00820000127042
HOGENOMiHOG000163048
HOVERGENiHBG060025
InParanoidiQ15477
KOiK12599
OMAiVIIMLPD
OrthoDBiEOG091G0184
PhylomeDBiQ15477
TreeFamiTF314438

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR025696 rRNA_proc-arch_dom
IPR016438 Ski2-like
IPR012961 Ski2_C
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF08148 DSHCT, 1 hit
PF00271 Helicase_C, 1 hit
PF13234 rRNA_proc-arch, 1 hit
PIRSFiPIRSF005198 Antiviral_helicase_SKI2, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM01142 DSHCT, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q15477-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMETERLVLP PPDPLDLPLR AVELGCTGHW ELLNLPGAPE SSLPHGLPPC
60 70 80 90 100
APDLQQEAEQ LFLSSPAWLP LHGVEHSARK WQRKTDPWSL LAVLGAPVPS
110 120 130 140 150
DLQAQRHPTT GQILGYKEVL LENTNLSATT SLSLRRPPGP ASQSLWGNPT
160 170 180 190 200
QYPFWPGGMD EPTITDLNTR EEAEEEIDFE KDLLTIPPGF KKGMDFAPKD
210 220 230 240 250
CPTPAPGLLS LSCMLEPLDL GGGDEDENEA VGQPGGPRGD TVSASPCSAP
260 270 280 290 300
LARASSLEDL VLKEASTAVS TPEAPEPPSQ EQWAIPVDAT SPVGDFYRLI
310 320 330 340 350
PQPAFQWAFE PDVFQKQAIL HLERHDSVFV AAHTSAGKTV VAEYAIALAQ
360 370 380 390 400
KHMTRTIYTS PIKALSNQKF RDFRNTFGDV GLLTGDVQLH PEASCLIMTT
410 420 430 440 450
EILRSMLYSG SDVIRDLEWV IFDEVHYIND VERGVVWEEV LIMLPDHVSI
460 470 480 490 500
ILLSATVPNA LEFADWIGRL KRRQIYVIST VTRPVPLEHY LFTGNSSKTQ
510 520 530 540 550
GELFLLLDSR GAFHTKGYYA AVEAKKERMS KHAQTFGAKQ PTHQGGPAQD
560 570 580 590 600
RGVYLSLLAS LRTRAQLPVV VFTFSRGRCD EQASGLTSLD LTTSSEKSEI
610 620 630 640 650
HLFLQRCLAR LRGSDRQLPQ VLHMSELLNR GLGVHHSGIL PILKEIVEML
660 670 680 690 700
FSRGLVKVLF ATETFAMGVN MPARTVVFDS MRKHDGSTFR DLLPGEYVQM
710 720 730 740 750
AGRAGRRGLD PTGTVILLCK GRVPEMADLH RMMMGKPSQL QSQFRLTYTM
760 770 780 790 800
ILNLLRVDAL RVEDMMKRSF SEFPSRKDSK AHEQALAELT KRLGALEEPD
810 820 830 840 850
MTGQLVDLPE YYSWGEELTE TQHMIQRRIM ESVNGLKSLS AGRVVVVKNQ
860 870 880 890 900
EHHNALGVIL QVSSNSTSRV FTTLVLCDKP LSQDPQDRGP ATAEVPYPDD
910 920 930 940 950
LVGFKLFLPE GPCDHTVVKL QPGDMAAITT KVLRVNGEKI LEDFSKRQQP
960 970 980 990 1000
KFKKDPPLAA VTTAVQELLR LAQAHPAGPP TLDPVNDLQL KDMSVVEGGL
1010 1020 1030 1040 1050
RARKLEELIQ GAQCVHSPRF PAQYLKLRER MQIQKEMERL RFLLSDQSLL
1060 1070 1080 1090 1100
LLPEYHQRVE VLRTLGYVDE AGTVKLAGRV ACAMSSHELL LTELMFDNAL
1110 1120 1130 1140 1150
STLRPEEIAA LLSGLVCQSP GDAGDQLPNT LKQGIERVRA VAKRIGEVQV
1160 1170 1180 1190 1200
ACGLNQTVEE FVGELNFGLV EVVYEWARGM PFSELAGLSG TPEGLVVRCI
1210 1220 1230 1240
QRLAEMCRSL RGAARLVGEP VLGAKMETAA TLLRRDIVFA ASLYTQ
Length:1,246
Mass (Da):137,755
Last modified:November 30, 2010 - v3
Checksum:i9F00097BA83A4AEC
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0B4B4E0B4_HUMAN
Helicase SKI2W
SKIV2L
230Annotation score:
H7C4L3H7C4L3_HUMAN
Helicase SKI2W
SKIV2L
182Annotation score:
H7C5N0H7C5N0_HUMAN
Helicase SKI2W
SKIV2L
156Annotation score:
F8WDE8F8WDE8_HUMAN
Helicase SKI2W
SKIV2L
69Annotation score:

Sequence cautioni

The sequence AAB52523 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti366S → T in AAB52523 (PubMed:7759100).Curated1
Sequence conflicti623H → Q in CAA88733 (PubMed:7610041).Curated1
Sequence conflicti1052L → F in CAA88733 (PubMed:7610041).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060379151Q → R2 PublicationsCorresponds to variant dbSNP:rs438999EnsemblClinVar.1
Natural variantiVAR_035944183L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_060380214M → L3 PublicationsCorresponds to variant dbSNP:rs437179EnsemblClinVar.1
Natural variantiVAR_055888324R → W. Corresponds to variant dbSNP:rs36038685EnsemblClinVar.1
Natural variantiVAR_067721341V → G in THES2. 1 PublicationCorresponds to variant dbSNP:rs281875237EnsemblClinVar.1
Natural variantiVAR_035945765M → I in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs557829269Ensembl.1
Natural variantiVAR_055889887D → N. Corresponds to variant dbSNP:rs3911893EnsemblClinVar.1
Natural variantiVAR_055890917V → M1 PublicationCorresponds to variant dbSNP:rs106287EnsemblClinVar.1
Natural variantiVAR_0558911071A → V1 PublicationCorresponds to variant dbSNP:rs449643EnsemblClinVar.1
Natural variantiVAR_0603811153G → R. Corresponds to variant dbSNP:rs2734329Ensembl.1
Natural variantiVAR_0603821238V → G. Corresponds to variant dbSNP:rs2746400Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U09877 mRNA Translation: AAB52523.1 Different initiation.
X98378 Genomic DNA Translation: CAA67024.1
Z48796 mRNA Translation: CAA88733.1
AF019413 Genomic DNA Translation: AAB67978.1
AL662849 Genomic DNA No translation available.
AL645922 Genomic DNA No translation available.
CCDSiCCDS4731.1
PIRiS56752
RefSeqiNP_008860.4, NM_006929.4
UniGeneiHs.89864

Genome annotation databases

EnsembliENST00000375394; ENSP00000364543; ENSG00000204351
ENST00000383336; ENSP00000372827; ENSG00000206353
ENST00000412823; ENSP00000400626; ENSG00000232616
ENST00000421789; ENSP00000399530; ENSG00000228896
ENST00000429465; ENSP00000412310; ENSG00000223493
ENST00000448219; ENSP00000394400; ENSG00000225737
GeneIDi6499
KEGGihsa:6499
UCSCiuc003nyn.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U09877 mRNA Translation: AAB52523.1 Different initiation.
X98378 Genomic DNA Translation: CAA67024.1
Z48796 mRNA Translation: CAA88733.1
AF019413 Genomic DNA Translation: AAB67978.1
AL662849 Genomic DNA No translation available.
AL645922 Genomic DNA No translation available.
CCDSiCCDS4731.1
PIRiS56752
RefSeqiNP_008860.4, NM_006929.4
UniGeneiHs.89864

3D structure databases

ProteinModelPortaliQ15477
SMRiQ15477
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112390, 43 interactors
CORUMiQ15477
IntActiQ15477, 19 interactors
STRINGi9606.ENSP00000364543

Protein family/group databases

MoonDBiQ15477 Predicted

PTM databases

iPTMnetiQ15477
PhosphoSitePlusiQ15477

Polymorphism and mutation databases

BioMutaiSKIV2L
DMDMi313104288

Proteomic databases

EPDiQ15477
MaxQBiQ15477
PaxDbiQ15477
PeptideAtlasiQ15477
PRIDEiQ15477
ProteomicsDBi60607

Protocols and materials databases

DNASUi6499
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375394; ENSP00000364543; ENSG00000204351
ENST00000383336; ENSP00000372827; ENSG00000206353
ENST00000412823; ENSP00000400626; ENSG00000232616
ENST00000421789; ENSP00000399530; ENSG00000228896
ENST00000429465; ENSP00000412310; ENSG00000223493
ENST00000448219; ENSP00000394400; ENSG00000225737
GeneIDi6499
KEGGihsa:6499
UCSCiuc003nyn.2 human

Organism-specific databases

CTDi6499
DisGeNETi6499
EuPathDBiHostDB:ENSG00000204351.11
GeneCardsiSKIV2L
H-InvDBiHIX0005742
HIX0166115
HIX0166390
HIX0166908
HIX0167165
HIX0167404
HGNCiHGNC:10898 SKIV2L
HPAiHPA051959
HPA054419
MalaCardsiSKIV2L
MIMi600478 gene
614602 phenotype
neXtProtiNX_Q15477
OpenTargetsiENSG00000204351
Orphaneti84064 Syndromic diarrhea
PharmGKBiPA35798
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0948 Eukaryota
COG4581 LUCA
GeneTreeiENSGT00820000127042
HOGENOMiHOG000163048
HOVERGENiHBG060025
InParanoidiQ15477
KOiK12599
OMAiVIIMLPD
OrthoDBiEOG091G0184
PhylomeDBiQ15477
TreeFamiTF314438

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease

Miscellaneous databases

ChiTaRSiSKIV2L human
GeneWikiiSKIV2L
GenomeRNAii6499
PROiPR:Q15477
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204351 Expressed in 225 organ(s), highest expression level in right lobe of liver
CleanExiHS_SKIV2L
ExpressionAtlasiQ15477 baseline and differential
GenevisibleiQ15477 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR025696 rRNA_proc-arch_dom
IPR016438 Ski2-like
IPR012961 Ski2_C
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF08148 DSHCT, 1 hit
PF00271 Helicase_C, 1 hit
PF13234 rRNA_proc-arch, 1 hit
PIRSFiPIRSF005198 Antiviral_helicase_SKI2, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM01142 DSHCT, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSKIV2_HUMAN
AccessioniPrimary (citable) accession number: Q15477
Secondary accession number(s): O15005
, Q12902, Q15476, Q5ST66
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 178 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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