ABCA3 D253H [lamellar body membrane]

Stable Identifier
R-HSA-5683697
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lamellar body membrane
Synonyms
ATP-binding cassette sub-family A member 3, ABCA3_HUMAN
Icon
ABCA3 D253H [lamellar body membrane] icon
ABCA3 D253H [lamellar body membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q99758 ABCA3
Gene Names
ABCA3, ABC3
Chain
chain:1-1704, chain:175-1704
Reference Genes
BioGPS Gene:21 ABCA3
COSMIC (genes):ABCA3 ABCA3
CTD Gene:21 ABCA3
dbSNP Gene:21 ABCA3
ENSEMBL:ENSG00000167972 ABCA3
HGNC:33 ABCA3
KEGG:hsa:21 ABCA3
Monarch:21 ABCA3
NCBI Gene:21 ABCA3
OMIM:601615 ABCA3
UCSC:Q99758 ABCA3
Reference Transcript
Other Identifiers
11723350_a_at
11723351_a_at
11744856_a_at
16823109
204343_PM_at
204343_at
21
35183_at
3644741
3644765
3644766
3676764
3676765
3676766
3676768
3676769
3676770
3676771
3676772
3676773
3676774
3676775
3676779
3676780
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
3676841
7998784
A_23_P140876
GE59432
GO:0003824
GO:0005215
GO:0005319
GO:0005524
GO:0005615
GO:0005764
GO:0005765
GO:0005768
GO:0005770
GO:0005773
GO:0005886
GO:0006629
GO:0006855
GO:0006869
GO:0008559
GO:0009410
GO:0010875
GO:0015914
GO:0016020
GO:0016787
GO:0016887
GO:0030324
GO:0030659
GO:0031410
GO:0032368
GO:0032464
GO:0032585
GO:0034204
GO:0042599
GO:0042626
GO:0042908
GO:0043129
GO:0043226
GO:0043231
GO:0046470
GO:0046471
GO:0046618
GO:0046890
GO:0048856
GO:0051384
GO:0055085
GO:0055091
GO:0061024
GO:0070925
GO:0097208
GO:0097232
GO:0097233
GO:0120009
GO:0120019
GO:0140326
GO:0140345
GO:0140359
GO:0140657
GO:0150172
GO:1902995
GO:2001140
HMNXSV003041733
ILMN_1758523
PH_hs_0002351
TC16000783.hg
U78735_at
g4501848_3p_at
Participates
as a member of
Other forms of this molecule
ABCA3 [lamellar body membrane]
ABCA3 T1114M [lamellar body membrane]
ABCA3 N568D [lamellar body membrane]
ABCA3 E690K [lamellar body membrane]
ABCA3 E292V [lamellar body membrane]
ABCA3 L1553P [lamellar body membrane]
ABCA3 L326P [lamellar body membrane]
ABCA3 L101P [lamellar body membrane]
ABCA3 W1142* [lamellar body membrane]
ABCA3 T1173R [lamellar body membrane]
Modified Residues
Name
L-aspartic acid 253 replaced with L-histidine
Coordinate
253
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
newborn respiratory distress syndrome DOID: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
Guide to Pharmacology - Targets
758
OpenTargets
ENSEMBL
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Interactors (7)
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