ELNE_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
ELANE
, ELA2
Protein names and data:
ELNE_HUMAN
, Neutrophil elastase; 3.4.21.37
, Bone marrow serine protease; Elastase-2; Human leukocyte elastase; HLE; Medullasin; PMN elastase; Flags: Precursor
Lenght: 267 a.a.
Mass: 28518 Da
fasta formatted sequence
Function:
Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.
Catalytic activity:
Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.
Disease:
( OMIM:
130130
162800
202700
)
Cyclic haematopoiesis (CH) [MIM:162800]: Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. Note=The disease is caused by mutations affecting the gene represented in this entry. Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Bone marrow cells.
Genetic variants
25 - 25
A -> V (in SCN1). VAR_064512
32 - 32
G -> V (in CH). VAR_009538
55 - 55
C -> Y (in GFI1). VAR_038609
57 - 57
A -> T (in GFI1). VAR_038610
60 - 60
I -> T (in GFI1). VAR_038611
71 - 71
C -> R (in GFI1; dbSNP:rs28931611). VAR_038612
28931611
71 - 71
C -> S (in GFI1). VAR_038613
85 - 85
G -> E (in GFI1). VAR_038614
98 - 98
V -> L (in GFI1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity). VAR_038615
101 - 101
V -> L (in GFI1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity). VAR_038616
101 - 101
V -> M (in GFI1; dbSNP:rs28929494). VAR_038617
28929494
123 - 123
L -> PQL (in GFI1). VAR_038618
126 - 126
S -> L (in GFI1). VAR_038619
139 - 139
P -> L (in GFI1; dbSNP:rs28929493). VAR_038620
28929493
151 - 151
C -> S (in GFI1). VAR_038621
166 - 166
A -> T (in SCN1; the patient also carries mutation Lys-116 in G6PC3). VAR_064513
177 - 177
V -> F (in CH). VAR_009539
190 - 199
Missing (in GFI1). VAR_038622
191 - 191
R -> Q (in CH; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage). VAR_009540
205 - 205
P -> R (in GFI1). VAR_038623
210 - 210
G -> V (in GFI1). VAR_038624
214 - 214
G -> R (in GFI1). VAR_038625
219 - 219
V -> I (in dbSNP:rs17216656). VAR_019237
17216656
257 - 257
P -> L (in dbSNP:rs17216663). VAR_019238
17216663
262 - 262
P -> L (in dbSNP:rs17216670). VAR_019239
17216670
Database cross-references
UniProt:
P08246
Ensembl:
ENST00000263621
Ensembl:
ENST00000590230
MIM:
130130
MIM:
162800
MIM:
202700
neXtProt:
NX_P08246
Antibodypedia:
P08246
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.