SKI
entrez
6497
canonical
uniprot
P12755
canonical
ensembl
ENSG00000157933
resolver
ensp
ENSP00000367797
resolver
ensp
ENSP00000521247
resolver
enst
ENST00000378536
resolver
genesymbol
SKI
resolver
hgnc
HGNC:10896
resolver
uniprot
Q5SYT7
resolver
uniprot_entry
SKI_HUMAN
resolver
uniprot_sec
Q5SYT7
resolver
amino_acid_sequence
MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGSEGAAELEP
uniprot
proteins
disease_involvement
DISEASE: Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities. {ECO:0000269|PubMed:23023332, ECO:0000269|PubMed:23103230, ECO:0000269|PubMed:24357594, ECO:0000269|PubMed:24736733}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling. {ECO:0000269|PubMed:19049980}.
uniprot
proteins
mass_dalton
80005
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by ARK2C, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling. {ECO:0000250|UniProtKB:Q60698}.
uniprot
proteins
protein_family
SKI family
uniprot
proteins
pubmed
12874272
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19049980
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23023332
uniprot
proteins
pubmed
23103230
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24357594
uniprot
proteins
pubmed
24736733
uniprot
proteins
pubmed
2762147
uniprot
proteins
sequence_length
728
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins