SPDYE1
entrez
285955
canonical
uniprot
Q8NFV5
canonical
ensembl
ENSG00000136206
resolver
ensp
ENSP00000258704
resolver
ensp
ENSP00000499187
resolver
ensp
ENSP00000509569
resolver
enst
ENST00000258704
resolver
enst
ENST00000652520
resolver
enst
ENST00000693451
resolver
genesymbol
SPDYE1
resolver
genesymbol_syn
WBSCR19
resolver
hgnc
HGNC:16408
resolver
uniprot
A0A494C1S0
resolver
uniprot
Q9NTH5
resolver
uniprot_entry
A0A494C1S0_HUMAN
resolver
uniprot_entry
SPDE1_HUMAN
resolver
uniprot_sec
Q9NTH5
resolver
amino_acid_sequence
MQKHYTVAWFLYSAPGVDPSPPCRSLGWKRKREWSDESEEEPEKELAPEPEETWVVETLCGLKMKLKQQRVSPILLEHHKDFNSQLAPGVDPSPPHRSFCWKRKMEWWDKSEESEEEPRKVLAPEPEEIWVAEMLCGLKMKLKRRRVSLVLPEHHEAFNRLLEDPVIKRFLAWDKDLRVSDKYLLAMVIAYFSRAGFPSWQYQRLHFFLALYLANDMEEDDEDSKQNIFHFLYGKNRSRIPLLRKRRFQLYRSMNPRARKNRSHIPLVRKRRFQLRRCMNPRARKNRSQIVLFQKRRFHFFCSMSCRAWVSPEELEEIQAYDPEHWVWARDRARLS
uniprot
proteins
disease_involvement
DISEASE: Note=SPDYE1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:12073013). {ECO:0000269|PubMed:12073013}.
uniprot
proteins
mass_dalton
40668
uniprot
proteins
protein_family
Speedy/Ringo family
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22763696
uniprot
proteins
sequence_length
336
uniprot
proteins