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Q2VWA4 (SKOR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SKI family transcriptional corepressor 2
Alternative name(s):
Functional Smad-suppressing element on chromosome 18
Short name=Fussel-18
LBX1 corepressor 1-like protein
Ladybird homeobox corepressor 1-like protein
Gene names
Name:SKOR2
Synonyms:CORL2, FUSSEL18
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1001 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Exhibits transcriptional repressor activity By similarity. Acts as a TGF-beta antagonist in the nervous system. Ref.1

Subunit structure

Interacts with SMAD2 and SMAD3. Ref.1

Subcellular location

Nucleus. Cytoplasm Ref.1.

Tissue specificity

Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at protein level). Ref.1

Sequence similarities

Belongs to the SKI family.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionRepressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcerebellar Purkinje cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of BMP signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of transforming growth factor beta receptor signaling pathway

Inferred from direct assay Ref.1. Source: UniProtKB

positive regulation of smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

regulation of cerebellar granule cell precursor proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of dendrite morphogenesis

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Non-traceable author statement Ref.1. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from direct assay Ref.1. Source: UniProtKB

nucleus

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionSMAD binding

Inferred from physical interaction Ref.1. Source: UniProtKB

transcription corepressor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q2VWA4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q2VWA4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     259-296: VKAAAVAAAA...PPPPPPPPLA → IRTRSIAFSS...MRINEDNIWL
     297-1001: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10011001SKI family transcriptional corepressor 2
PRO_0000334611

Regions

Compositional bias261 – 448188Ala-rich
Compositional bias285 – 29410Pro-rich
Compositional bias343 – 616274Gly-rich
Compositional bias465 – 711247Pro-rich
Compositional bias603 – 66866His-rich
Compositional bias729 – 77446Glu-rich
Compositional bias834 – 8407Poly-Pro

Natural variations

Alternative sequence259 – 29638VKAAA…PPPLA → IRTRSIAFSSQTLMLLEEIF GEKDQEDYMRINEDNIWL in isoform 2.
VSP_033691
Alternative sequence297 – 1001705Missing in isoform 2.
VSP_033692
Natural variant9471F → C.
Corresponds to variant rs7235231 [ dbSNP | Ensembl ].
VAR_043438

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 20, 2008. Version 2.
Checksum: 0C546EAD63DDC132

FASTA1,001104,235
        10         20         30         40         50         60 
MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP IVSLVIDGQE 

        70         80         90        100        110        120 
RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE ILRRAGAMPI SSRRCGMITK 

       130        140        150        160        170        180 
REAERLCKSF LGENRPPKLP DNFAFDVSHE CAWGCRGSFI PARYNSSRAK CIKCSYCNMY 

       190        200        210        220        230        240 
FSPNKFIFHS HRTPDAKYTQ PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR 

       250        260        270        280        290        300 
KRALPQPGAH PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG 

       310        320        330        340        350        360 
APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG GAGGGCVAGV 

       370        380        390        400        410        420 
GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG CGGLFPHPYT FPAAAAAFSL 

       430        440        450        460        470        480 
CHKKEDAGAA AEALGGAGAG GAGAAPKAGL SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP 

       490        500        510        520        530        540 
VPTYLQPPPQ PPSALGCALG ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP 

       550        560        570        580        590        600 
GSGPPPPAGG AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP 

       610        620        630        640        650        660 
APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA QTHPHHHHHP 

       670        680        690        700        710        720 
HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP PPPPPPLAQH PHHRGLLSPG 

       730        740        750        760        770        780 
GTSCCYPSED SSEDEDDEEE EQEVDVEGHK PPEGEEEEEG RDPDDDEEED EETEVLLGDP 

       790        800        810        820        830        840 
LVGGGRFLQG RGPSEKGSSR DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP 

       850        860        870        880        890        900 
LAPQKASGGG SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF 

       910        920        930        940        950        960 
FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI DLRRRLEQEF 

       970        980        990       1000 
QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIVSCIS T 

« Hide

Isoform 2 [UniParc].

Checksum: A0BC0C875F42ACC0
Show »

FASTA29633,354

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY669508 mRNA. Translation: AAV74189.1.
AC051635 Genomic DNA. No translation available.
RefSeqNP_001032891.1. NM_001037802.1.
UniGeneHs.585834.

3D structure databases

ProteinModelPortalQ2VWA4.
SMRQ2VWA4. Positions 43-131, 147-236.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000414750.

PTM databases

PhosphoSiteQ2VWA4.

Polymorphism databases

DMDM189082904.

Proteomic databases

PaxDbQ2VWA4.
PRIDEQ2VWA4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000400404; ENSP00000383255; ENSG00000215474. [Q2VWA4-2]
ENST00000425639; ENSP00000414750; ENSG00000215474. [Q2VWA4-1]
GeneID652991.
KEGGhsa:652991.
UCSCuc010dnt.2. human. [Q2VWA4-2]
uc031rif.1. human. [Q2VWA4-1]

Organism-specific databases

CTD652991.
GeneCardsGC18M044729.
H-InvDBHIX0059797.
HGNCHGNC:32695. SKOR2.
HPAHPA046206.
neXtProtNX_Q2VWA4.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78967.
HOVERGENHBG107746.
OMAHAHHKRP.
OrthoDBEOG7R56SW.
PhylomeDBQ2VWA4.
TreeFamTF324133.

Gene expression databases

BgeeQ2VWA4.
GenevestigatorQ2VWA4.

Family and domain databases

Gene3D3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProIPR014890. c-SKI_SMAD4-bd_dom.
IPR009061. DNA-bd_dom_put.
IPR010919. SAND_dom-like.
IPR028376. SKI_corepress_2.
IPR003380. Transform_Ski.
IPR023216. Tscrpt_reg_SKI_SnoN.
[Graphical view]
PANTHERPTHR10005. PTHR10005. 1 hit.
PTHR10005:SF7. PTHR10005:SF7. 1 hit.
PfamPF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view]
SMARTSM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view]
SUPFAMSSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.
ProtoNetSearch...

Other

PROQ2VWA4.

Entry information

Entry nameSKOR2_HUMAN
AccessionPrimary (citable) accession number: Q2VWA4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: April 16, 2014
This is version 80 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM