STX11_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
STX11
Protein names and data:
STX11_HUMAN
, Syntaxin-11
Lenght: 287 a.a.
Mass: 33196 Da
fasta formatted sequence
Function:
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.
Disease:
( OMIM:
603552
605014
)
Familial hemophagocytic lymphohistiocytosis 4 (FHL4) [MIM:603552]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Peripheral membrane protein (Potential). Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein (By similarity).
Genetic variants
31 - 31
E -> Q (in dbSNP:rs1802414). VAR_011995
1802414
49 - 49
R -> Q (in dbSNP:rs17073498). VAR_029769
17073498
204 - 204
L -> H (in dbSNP:rs1133248). VAR_011996
1133248
277 - 277
T -> A (in dbSNP:rs9496891). VAR_029770
9496891
Database cross-references
UniProt:
O75558
Ensembl:
ENST00000367568
MIM:
603552
MIM:
605014
neXtProt:
NX_O75558
Antibodypedia:
O75558
(may not find the protein thus also not any antibody)
Local full text data:
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