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P84550 (SKOR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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 1
Alternative name(s):
Functional Smad-suppressing element on chromosome 15
Short name=Fussel-15
LBX1 corepressor 1
Ladybird homeobox corepressor 1
Gene names
Name:SKOR1
Synonyms:CORL1, FUSSEL15, LBXCOR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length965 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a transcriptional corepressor of LBX1 By similarity. Inhibits BMP signaling. UniProtKB Q8BX46

Subunit structure

Interacts with LBX1 By similarity. Interacts with SMAD1, SMAD2 and SMAD3. Ref.1 UniProtKB Q8BX46

Subcellular location

Nucleus By similarity UniProtKB Q8BX46.

Tissue specificity

Present specifically in cerebellar Purkinje cells (at protein level). Ref.1

Sequence similarities

Belongs to the SKI family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P84550-1)

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: P84550-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MALLCGLGQV...GFLAARAFLR → MIPKSLVQAA...HVDLGGNQLW
     267-345: Missing.
     422-588: Missing.
     691-727: Missing.
Isoform 3 (identifier: P84550-3)

The sequence of this isoform differs from the canonical sequence as follows:
     28-36: Missing.
     277-311: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 965965SKI family transcriptional corepressor 1
PRO_0000129390

Regions

Coiled coil858 – 92265 Potential

Natural variations

Alternative sequence1 – 3636MALLC…RAFLR → MIPKSLVQAAETQRGLCEPG GKGREGRSGGKGETRPRGVG TQEGKGTIPGSPREKRGERG EGDPALLPAEDLWRLPGSKD RLRSSLLPPPGPPSSDSGPG PPSSHSGKTAQGPRTLNWAR KQSARTSSNLCAWSLAMATK MAEIPSSPYEPGQRGMKDTQ RGDAPQRGSPEPRILQLARV GNVYLKEESSRSGRLEAKKW IPTKFLENLSVPHVDLGGNQ LW in isoform 2.
VSP_033678
Alternative sequence28 – 369Missing in isoform 3.
VSP_040199
Alternative sequence267 – 34579Missing in isoform 2.
VSP_033679
Alternative sequence277 – 31135Missing in isoform 3.
VSP_040200
Alternative sequence422 – 588167Missing in isoform 2.
VSP_033680
Alternative sequence691 – 72737Missing in isoform 2.
VSP_033681

Sequences

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

Last modified June 21, 2005. Version 1.
Checksum: 313E95B0430A979B

FASTA96599,831
        10         20         30         40         50         60 
MALLCGLGQV TLRIWVSLPS QSENGIGFLA ARAFLRSGGM EALTTQLGPG REGSSSPNSK 

        70         80         90        100        110        120 
QELQPYSGSS ALKPNQVGET SLYGVPIVSL VIDGQERLCL AQISNTLLKN YSYNEIHNRR 

       130        140        150        160        170        180 
VALGITCVQC TPVQLEILRR AGAMPISSRR CGMITKREAE RLCKSFLGEH KPPKLPENFA 

       190        200        210        220        230        240 
FDVVHECAWG SRGSFIPARY NSSRAKCIKC GYCSMYFSPN KFIFHSHRTP DAKYTQPDAA 

       250        260        270        280        290        300 
NFNSWRRHLK LSDKSATDEL SHAWEDVKAM FNGGTRKRTF SLQGGGGGGA NGGSGGQGKG 

       310        320        330        340        350        360 
GAGGGGGGGP GCGAEMAPGP PPHKSLRCGE DEAAGPPGPP PPHPQRGLGL ATGASGPAGP 

       370        380        390        400        410        420 
GGPGGGAGVR SYPVIPVPSK GFGLLQKLPP PLFPHPYGFP TAFGLCPKKD DPVLGAGEPK 

       430        440        450        460        470        480 
GGPGTGSGGG GAGTGGGAGG PGASHLPPGA GAGPGGGAMF WGHQPSGAAK DAAAVAAAAA 

       490        500        510        520        530        540 
AATVYPTFPM FWPAAGSLPV PSYPAAQSQA KAVAAAVAAA AAAAAAAAGS GAPEPLDGAE 

       550        560        570        580        590        600 
PAKESGLGAE ERCPSALSRG PLDEDGTDEA LPPPLAPLPP PPPPPARKGS YVSAFRPVVK 

       610        620        630        640        650        660 
DTESIAKLYG SAREAYGAGP ARGPGPGAGS GGYVSPDFLS EGSSSYNSAS PDVDTADEPE 

       670        680        690        700        710        720 
VDVESNRFPD DEDAQEETEP SAPSAGGGPD GEQPTGPPSA TSSGADGPAN SPDGGSPRPR 

       730        740        750        760        770        780 
RRLGPPPAGR PAFGDLAAED LVRRPERSPP SGGGGYELRE PCGPLGGPAP AKVFAPERDE 

       790        800        810        820        830        840 
HVKSAAVALG PAASYVCTPE AHEPDKEDNH SPADDLETRK SYPDQRSISQ PSPANTDRGE 

       850        860        870        880        890        900 
DGLTLDVTGT HLVEKDIENL AREELQKLLL EQMELRKKLE REFQSLKDNF QDQMKRELAY 

       910        920        930        940        950        960 
REEMVQQLQI VRDTLCNELD QERKARYAIQ QKLKEAHDAL HHFSCKMLTP RHCTGNCSFK 


PPLLP 

« Hide

Isoform 2 [UniParc].

Checksum: A206B5ADFF8E8421
Show »

FASTA86893,779
Isoform 3 [UniParc].

Checksum: 52DBF87B6324D49F
Show »

FASTA92196,028

References

« Hide 'large scale' references
[1]"Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling."
Arndt S., Poser I., Moser M., Bosserhoff A.-K.
Mol. Cell. Neurosci. 34:603-611(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INTERACTION WITH SMAD1; SMAD2 AND SMAD3.
[2]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY669507 mRNA. Translation: AAV74188.1.
AC009292 Genomic DNA. No translation available.
BC168376 mRNA. Translation: AAI68376.1.
CCDSCCDS58374.1. [P84550-2]
RefSeqNP_001244953.1. NM_001258024.1. [P84550-2]
UniGeneHs.451224.

3D structure databases

ProteinModelPortalP84550.
SMRP84550. Positions 79-167, 183-272.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteP84550.

Polymorphism databases

DMDM68052265.

Proteomic databases

PaxDbP84550.
PRIDEP84550.

Protocols and materials databases

DNASU390598.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341418; ENSP00000343200; ENSG00000188779. [P84550-2]
ENST00000380035; ENSP00000369374; ENSG00000188779. [P84550-1]
ENST00000389002; ENSP00000373654; ENSG00000188779. [P84550-3]
GeneID390598.
KEGGhsa:390598.
UCSCuc031qsn.1. human. [P84550-2]

Organism-specific databases

CTD390598.
GeneCardsGC15P068113.
H-InvDBHIX0038482.
HGNCHGNC:21326. SKOR1.
HPAHPA040673.
MIM611273. gene.
neXtProtNX_P84550.
PharmGKBPA165479509.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78967.
HOGENOMHOG000293318.
HOVERGENHBG081893.
InParanoidP84550.
OMANRFPDEE.
OrthoDBEOG7R56SW.
PhylomeDBP84550.
TreeFamTF324133.

Gene expression databases

BgeeP84550.
CleanExHS_LBXCOR1.
GenevestigatorP84550.

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.
IPR028762. SKOR1.
IPR003380. Transform_Ski.
IPR023216. Tscrpt_reg_SKI_SnoN.
[Graphical view]
PANTHERPTHR10005. PTHR10005. 1 hit.
PTHR10005:SF8. PTHR10005:SF8. 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

GenomeRNAi390598.
NextBio103908.
PROP84550.
SOURCESearch...

Entry information

Entry nameSKOR1_HUMAN
AccessionPrimary (citable) accession number: P84550
Secondary accession number(s): A6NIP4, A6NJY0, Q2VWA5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: June 21, 2005
Last modified: July 9, 2014
This is version 84 of the entry and version 1 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM