SFTPB P121Efs*95 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5688002
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
SFTPB 121ins2, Pulmonary surfactant-associated protein B (SP-B), SFTB_HUMAN
Icon
SFTPB P121Efs*95 [endoplasmic reticulum membrane] icon
SFTPB P121Efs*95 [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
16333843 Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

Stuhrmann, M, Couderc, R, Feingold, J, Roudot-Thoraval, F, Jeanpierre, M, Boëlle, PY, Bahuau, M, Elion, J, Cooper, DN, Tredano, M, Chuzhanova, NA, Christodoulou, J

Am J Med Genet A 2006
8163685 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds

Garnier, G, Nogee, LM, Murphy, AM, Colten, HR, deMello, DE, Dietz, HC, Singer, L

J. Clin. Invest. 1994
10571948 Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency

Bahuau, M, Zimmermann, LJ, Tredano, M, Hull, WM, van Elburg, RM, Kaspers, AG, Griese, M, Houdayer, C, Elion, J, Whitsett, JA, Aymard, P

Hum. Mutat. 1999
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
ENSEMBL_homo_sapiens_GENE:ENSG00000168878.19 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
11734773_x_at
11734774_s_at
11734775_x_at
11747224_s_at
11749911_x_at
11755508_x_at
16899739
209810_PM_at
209810_at
213936_PM_x_at
213936_x_at
214354_PM_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_PM_at
37004_at
6439
8053467
A_23_P17044
A_33_P3275873
A_33_P3275878
GE86029
GO:0005515
GO:0005576
GO:0005737
GO:0005764
GO:0005768
GO:0005771
GO:0005773
GO:0005783
GO:0005789
GO:0006629
GO:0006665
GO:0007585
GO:0009887
GO:0031410
GO:0042599
GO:0043226
GO:0045334
GO:0048856
GO:0097208
GO:0097486
HMNXSV003022016
HMNXSV003052841
Hs.264330.0.S1_3p_x_at
Hs.264330.1.S1_3p_s_at
ILMN_1727017
ILMN_2359835
M24461_at
PH_hs_0026815
PH_hs_0034353
TC02002046.hg
TC02004378.hg
g190673_3p_at
g190673_3p_s_at
Participates
as a member of
Other forms of this molecule
SFTPB Q45Kfs*8 [endoplasmic reticulum membrane]
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]
Modified Residues
Name
Replacement of residues 121 to 214 by EPWSSTTSRTRLTQTASVCTWACANPGSQSQSRSQGCQTPCPNLCGTLCQTLCWTSSSSLCCPGPSRRGLGLTHRISPSSNSPFLSPIAGSAGL
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
interstitial lung disease DOID:3082 ILD
Cross References
RefSeq
ClinGen
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6FHY5 Q6FHY5      0.556 3
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