Q2VWA4 (SKOR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SKOR2
Synonyms:	CORL2, FUSSEL18

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1001 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Uncategorized	transcription repressor activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Biological process	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 transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Molecular function	SMAD binding Inferred from physical interaction Ref.1. Source: UniProtKB nucleotide binding Inferred from electronic annotation. Source: InterPro 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1001	1001	SKI family transcriptional corepressor 2		PRO_0000334611
Regions
	Compositional bias	261 – 448	188	Ala-rich
	Compositional bias	285 – 294	10	Pro-rich
	Compositional bias	343 – 616	274	Gly-rich
	Compositional bias	465 – 711	247	Pro-rich
	Compositional bias	603 – 668	66	His-rich
	Compositional bias	729 – 774	46	Glu-rich
	Compositional bias	834 – 840	7	Poly-Pro
Natural variations
	Alternative sequence	259 – 296	38	VKAAA…PPPLA → IRTRSIAFSSQTLMLLEEIF GEKDQEDYMRINEDNIWL in isoform 2.		VSP_033691
	Alternative sequence	297 – 1001	705	Missing in isoform 2.		VSP_033692
	Natural variant	947	1	F → C. Corresponds to variant rs7235231 [ dbSNP | Ensembl ].		VAR_043438

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: 0C546EAD63DDC132	FASTA	1,001	104,235
	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
	Isoform 2 [UniParc]. Checksum: A0BC0C875F42ACC0	FASTA	296	33,354
	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 KRALPQPGAH PACHPLSSIR TRSIAFSSQT LMLLEEIFGE KDQEDYMRIN EDNIWL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 16200078] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH SMAD2 AND SMAD3, FUNCTION.
[2]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY669508 mRNA. Translation: AAV74189.1. AC051635 Genomic DNA. No translation available.
IPI	IPI00658068. IPI00886728.
UniGene	Hs.585834.
3D structure databases
ProteinModelPortal	Q2VWA4.
SMR	Q2VWA4. Positions 40-133, 144-236.
ModBase	Search...
Protein-protein interaction databases
STRING	Q2VWA4.
PTM databases
PhosphoSite	Q2VWA4.
Polymorphism databases
DMDM	189082904.
Proteomic databases
PRIDE	Q2VWA4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000425639; ENSP00000414750; ENSG00000215474.
UCSC	uc010dnt.1. human.
Organism-specific databases
GeneCards	GC18M044729.
H-InvDB	HIX0059797.
HGNC	HGNC:32695. SKOR2.
neXtProt	NX_Q2VWA4.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063040.
HOGENOM	HBG505923.
HOVERGEN	HBG107746.
OMA	PGSPVHH.
OrthoDB	EOG46Q6V3.
PhylomeDB	Q2VWA4.
Gene expression databases
Genevestigator	Q2VWA4.
Family and domain databases
InterPro	IPR014890. c-SKI_SMAD4-bd_dom. IPR009061. DNA-bd_dom_put. IPR010919. SAND_dom-like. IPR003380. Transform_Ski. IPR023216. Tscrpt_reg_SKI_SnoN. [Graphical view]
Gene3D	G3DSA:3.10.390.10. SAND. 1 hit. G3DSA:3.10.260.20. Transform_Ski. 1 hit.
PANTHER	PTHR10005. Tscrpt_reg_SKI_SnoN. 1 hit.
Pfam	PF08782. c-SKI_SMAD_bind. 1 hit. PF02437. Ski_Sno. 1 hit. [Graphical view]
SMART	SM01046. c-SKI_SMAD_bind. 1 hit. [Graphical view]
SUPFAM	SSF46955. Putativ_DNA_bind. 1 hit. SSF63763. SAND_like. 1 hit.
ProtoNet	Search...
Other
NextBio	122616.

Entry information

Entry name

SKOR2_HUMAN

Accession

Primary (citable) accession number: Q2VWA4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 20, 2008
Last modified:	January 25, 2012
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.