Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q2VWA4

- SKOR2_HUMAN

UniProt

Q2VWA4 - SKOR2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

SKI family transcriptional corepressor 2

Gene

SKOR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system.By similarity1 Publication

GO - Molecular functioni

  1. SMAD binding Source: UniProtKB
  2. transcription corepressor activity Source: UniProtKB

GO - Biological processi

  1. cerebellar Purkinje cell differentiation Source: Ensembl
  2. negative regulation of BMP signaling pathway Source: Ensembl
  3. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
  4. negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
  5. positive regulation of smoothened signaling pathway Source: Ensembl
  6. regulation of cerebellar granule cell precursor proliferation Source: Ensembl
  7. regulation of dendrite morphogenesis Source: Ensembl
  8. regulation of transcription, DNA-templated Source: UniProtKB
  9. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:SKOR2
Synonyms:CORL2, FUSSEL18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:32695. SKOR2.

Subcellular locationi

Nucleus 1 Publication. Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10011001SKI family transcriptional corepressor 2PRO_0000334611Add
BLAST

Proteomic databases

PaxDbiQ2VWA4.
PRIDEiQ2VWA4.

PTM databases

PhosphoSiteiQ2VWA4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ2VWA4.
GenevestigatoriQ2VWA4.

Organism-specific databases

HPAiHPA046206.

Interactioni

Subunit structurei

Interacts with SMAD2 and SMAD3.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000414750.

Structurei

3D structure databases

ProteinModelPortaliQ2VWA4.
SMRiQ2VWA4. Positions 43-131, 147-236.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi261 – 448188Ala-richAdd
BLAST
Compositional biasi285 – 29410Pro-rich
Compositional biasi343 – 616274Gly-richAdd
BLAST
Compositional biasi465 – 711247Pro-richAdd
BLAST
Compositional biasi603 – 66866His-richAdd
BLAST
Compositional biasi729 – 77446Glu-richAdd
BLAST
Compositional biasi834 – 8407Poly-Pro

Sequence similaritiesi

Belongs to the SKI family.Curated

Phylogenomic databases

eggNOGiNOG78967.
GeneTreeiENSGT00530000063040.
HOVERGENiHBG107746.
InParanoidiQ2VWA4.
OMAiQKFPGCG.
OrthoDBiEOG7R56SW.
PhylomeDBiQ2VWA4.
TreeFamiTF324133.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProiIPR014890. 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]
PANTHERiPTHR10005. PTHR10005. 1 hit.
PTHR10005:SF7. PTHR10005:SF7. 1 hit.
PfamiPF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view]
SMARTiSM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view]
SUPFAMiSSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q2VWA4-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP
60 70 80 90 100
IVSLVIDGQE RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE
110 120 130 140 150
ILRRAGAMPI SSRRCGMITK REAERLCKSF LGENRPPKLP DNFAFDVSHE
160 170 180 190 200
CAWGCRGSFI PARYNSSRAK CIKCSYCNMY FSPNKFIFHS HRTPDAKYTQ
210 220 230 240 250
PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR KRALPQPGAH
260 270 280 290 300
PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG
310 320 330 340 350
APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG
360 370 380 390 400
GAGGGCVAGV GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG
410 420 430 440 450
CGGLFPHPYT FPAAAAAFSL CHKKEDAGAA AEALGGAGAG GAGAAPKAGL
460 470 480 490 500
SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP VPTYLQPPPQ PPSALGCALG
510 520 530 540 550
ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP GSGPPPPAGG
560 570 580 590 600
AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP
610 620 630 640 650
APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA
660 670 680 690 700
QTHPHHHHHP HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP
710 720 730 740 750
PPPPPPLAQH PHHRGLLSPG GTSCCYPSED SSEDEDDEEE EQEVDVEGHK
760 770 780 790 800
PPEGEEEEEG RDPDDDEEED EETEVLLGDP LVGGGRFLQG RGPSEKGSSR
810 820 830 840 850
DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP LAPQKASGGG
860 870 880 890 900
SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF
910 920 930 940 950
FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI
960 970 980 990 1000
DLRRRLEQEF QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIVSCIS

T
Length:1,001
Mass (Da):104,235
Last modified:May 20, 2008 - v2
Checksum:i0C546EAD63DDC132
GO
Isoform 2 (identifier: Q2VWA4-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:296
Mass (Da):33,354
Checksum:iA0BC0C875F42ACC0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti947 – 9471F → C.
Corresponds to variant rs7235231 [ dbSNP | Ensembl ].
VAR_043438

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei259 – 29638VKAAA…PPPLA → IRTRSIAFSSQTLMLLEEIF GEKDQEDYMRINEDNIWL in isoform 2. 1 PublicationVSP_033691Add
BLAST
Alternative sequencei297 – 1001705Missing in isoform 2. 1 PublicationVSP_033692Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY669508 mRNA. Translation: AAV74189.1.
AC051635 Genomic DNA. No translation available.
CCDSiCCDS62441.1. [Q2VWA4-2]
RefSeqiNP_001032891.1. NM_001037802.1. [Q2VWA4-2]
UniGeneiHs.585834.

Genome annotation databases

EnsembliENST00000400404; ENSP00000383255; ENSG00000215474. [Q2VWA4-2]
ENST00000425639; ENSP00000414750; ENSG00000215474. [Q2VWA4-1]
GeneIDi652991.
KEGGihsa:652991.
UCSCiuc010dnt.2. human. [Q2VWA4-2]
uc031rif.1. human. [Q2VWA4-1]

Polymorphism databases

DMDMi189082904.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY669508 mRNA. Translation: AAV74189.1 .
AC051635 Genomic DNA. No translation available.
CCDSi CCDS62441.1. [Q2VWA4-2 ]
RefSeqi NP_001032891.1. NM_001037802.1. [Q2VWA4-2 ]
UniGenei Hs.585834.

3D structure databases

ProteinModelPortali Q2VWA4.
SMRi Q2VWA4. Positions 43-131, 147-236.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000414750.

PTM databases

PhosphoSitei Q2VWA4.

Polymorphism databases

DMDMi 189082904.

Proteomic databases

PaxDbi Q2VWA4.
PRIDEi Q2VWA4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000400404 ; ENSP00000383255 ; ENSG00000215474 . [Q2VWA4-2 ]
ENST00000425639 ; ENSP00000414750 ; ENSG00000215474 . [Q2VWA4-1 ]
GeneIDi 652991.
KEGGi hsa:652991.
UCSCi uc010dnt.2. human. [Q2VWA4-2 ]
uc031rif.1. human. [Q2VWA4-1 ]

Organism-specific databases

CTDi 652991.
GeneCardsi GC18M044729.
H-InvDB HIX0059797.
HGNCi HGNC:32695. SKOR2.
HPAi HPA046206.
neXtProti NX_Q2VWA4.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78967.
GeneTreei ENSGT00530000063040.
HOVERGENi HBG107746.
InParanoidi Q2VWA4.
OMAi QKFPGCG.
OrthoDBi EOG7R56SW.
PhylomeDBi Q2VWA4.
TreeFami TF324133.

Miscellaneous databases

GenomeRNAii 652991.
PROi Q2VWA4.

Gene expression databases

Bgeei Q2VWA4.
Genevestigatori Q2VWA4.

Family and domain databases

Gene3Di 3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProi IPR014890. 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 ]
PANTHERi PTHR10005. PTHR10005. 1 hit.
PTHR10005:SF7. PTHR10005:SF7. 1 hit.
Pfami PF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view ]
SMARTi SM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view ]
SUPFAMi SSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional characterization of a new Ski homolog, Fussel-18, specifically expressed in neuronal tissues."
    Arndt S., Poser I., Schubert T., Moser M., Bosserhoff A.-K.
    Lab. Invest. 85:1330-1341(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH SMAD2 AND SMAD3, FUNCTION.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiSKOR2_HUMAN
AccessioniPrimary (citable) accession number: Q2VWA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: October 29, 2014
This is version 84 of the entry and version 2 of the sequence. [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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3