ABCA3 E690K

Stable Identifier
R-HSA-5688389
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family A member 3, ABCA3_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA3, ABC3
Chain
chain:1-1704
Reference Transcript
Other Identifiers
0006620546
11723350_a_at
11723351_a_at
11744856_a_at
16823109
204343_at
21
35183_at
3644741
3644765
3676764
3676765
3676766
3676768
3676769
3676770
3676771
3676773
3676775
3676779
3676782
3676783
3676785
3676787
3676789
3676790
3676791
3676793
3676795
3676796
3676799
3676801
3676802
3676804
3676806
3676807
3676812
3676813
3676814
3676815
3676817
3676819
3676820
3676821
3676822
3676823
3676825
3676826
3676827
3676828
3676829
3676839
3676840
7884
7998784
A_23_P140876
ABCA3
ABCA3-201
ABCA3-205
CCDS10466
ENSG00000167972
ENSP00000301732
ENSP00000454397
ENST00000301732
ENST00000567910
EntrezGene:21
g4501848_3p_at
GE59432
GO:0000166
GO:0005215
GO:0005319
GO:0005524
GO:0005615
GO:0005886
GO:0006810
GO:0006869
GO:0016020
GO:0016021
GO:0016887
GO:0042493
GO:0042626
GO:0043231
GO:0044267
GO:0051384
GO:0055085
GO:0097208
GO:0097232
GO:0097233
HGNC:33
HPA007884
Hs.26630
ILMN_1742051
ILMN_1758523
MIM:601615
MIM:610921
NM_001089
NP_001080
PF00005
PF12698
PH_hs_0002351
SM00382
TC16000783.hg
U78735_at
uc002cpy.2
uc002cpz.2
UPI0000001232
UPI00001FFB90
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamic acid 690 replaced with L-lysine
Coordinate
690
PsiMod HEY
A protein modification that effectively removes or replaces an L-glutamic acid.
A protein modification that effectively converts a source amino acid residue to L-lysine.
Disease
Name Identifier Synonyms
interstitial lung disease 3082 ILD
newborn respiratory distress syndrome 12716 Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease
Cross References
RefSeq
GeneCards
PRO
Orphanet