SFTPB 457delC [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5688015
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Pulmonary surfactant-associated protein B, PSPB_HUMAN
Icon
SFTPB 457delC [endoplasmic reticulum membrane] icon
SFTPB 457delC [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P07988 SFTPB
Gene Names
SFTPB, SFTP3
Chain
signal peptide:1-24, propeptide:25-200, chain:201-279, propeptide:280-381
Reference Genes
BioGPS Gene:6439 SFTPB
COSMIC (genes):SFTPB SFTPB
CTD Gene:6439 SFTPB
dbSNP Gene:6439 SFTPB
ENSEMBL:ENSG00000168878 SFTPB
HGNC:10801 SFTPB
KEGG Gene (Homo sapiens):6439 SFTPB
Monarch:6439 SFTPB
NCBI Gene:6439 SFTPB
OMIM:178640 SFTPB
UCSC:P07988 SFTPB
Reference Transcript
Other Identifiers
0000130088
0003170114
11734773_x_at
11734774_s_at
11734775_x_at
11747224_s_at
11749911_x_at
11755508_x_at
16899739
209810_at
213936_x_at
214354_x_at
2562436
2562437
2562438
2562439
2562440
2562441
2562442
2562443
2562444
2562445
2562446
2562453
2562454
2562456
2562458
2562459
2562460
2562461
2562463
2562464
2562466
2562467
2562468
2562469
33383_f_at
37004_at
6439
8053467
A_23_P17044
A_33_P3275873
A_33_P3275878
GE86029
GO:0003674
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005764
GO:0005768
GO:0005771
GO:0005773
GO:0005789
GO:0006629
GO:0006665
GO:0007585
GO:0008150
GO:0009887
GO:0031410
GO:0042599
GO:0043226
GO:0044267
GO:0045334
GO:0048856
GO:0097208
GO:0097486
Hs.264330.0.S1_3p_x_at
Hs.264330.1.S1_3p_s_at
ILMN_1656839
ILMN_1669602
ILMN_1727017
ILMN_2359835
M24461_at
PH_hs_0026815
PH_hs_0034353
TC02002046.hg
TC02004378.hg
g190673_3p_at
g190673_3p_s_at
Participant Of
hasMember
Other forms of this molecule
SFTPB [extracellular region]
SFTPB [clathrin-coated endocytic vesicle]
SFTPB [lamellar body]
pro-SFTPB [endoplasmic reticulum membrane]
pro-SFTPB [multivesicular body lumen]
SFTPB(201-279) [multivesicular body lumen]
SFTPB(280-381) [multivesicular body lumen]
SFTPB(25-200) [multivesicular body lumen]
SFTPB 1549delCinsGAA [endoplasmic reticulum membrane]
Modified Residues
Name
Deletion of residues 457 to 457
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
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6FHY5 Q6FHY5      0.556 3
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