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SFTPB surfactant protein B [ Homo sapiens (human) ]

Gene ID: 6439, updated on 25-May-2017
Official Symbol
SFTPBprovided by HGNC
Official Full Name
surfactant protein Bprovided by HGNC
Primary source
HGNC:HGNC:10801
See related
Ensembl:ENSG00000168878 MIM:178640; Vega:OTTHUMG00000130181
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SP-B; PSP-B; SFTB3; SFTP3; SMDP1
Summary
This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
Orthologs
Location:
2p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (85657317..85668741, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85884440..85895864, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 150A Neighboring gene ubiquitin specific peptidase 39 Neighboring gene chromosome 2 open reading frame 68 Neighboring gene uncharacterized LOC105374842 Neighboring gene G protein-coupled receptor 160 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enzyme activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
alveolar lamellar body IBA
Inferred from Biological aspect of Ancestor
more info
 
clathrin-coated endocytic vesicle TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
lamellar body TAS
Traceable Author Statement
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
multivesicular body IBA
Inferred from Biological aspect of Ancestor
more info
 
multivesicular body lumen TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
pulmonary surfactant-associated protein B
Names
18 kDa pulmonary-surfactant protein
6 kDa protein
pulmonary surfactant-associated proteolipid SPL(Phe)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016967.1 RefSeqGene

    Range
    5001..16425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000542.3NP_000533.3  pulmonary surfactant-associated protein B precursor

    See identical proteins and their annotated locations for NP_000533.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB439563, AL548140, AW204600, BC032785, BG482852, CA437348
    Consensus CDS
    CCDS1983.2
    UniProtKB/Swiss-Prot
    P07988
    UniProtKB/TrEMBL
    D6W5L6
    Related
    ENSP00000377409.4, ENST00000393822.7
    Conserved Domains (4) summary
    smart00741
    Location:79155
    SapB; Saposin (B) Domains
    pfam03489
    Location:124155
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:81115
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:4073
    SapA; Saposin A-type domain
  2. NM_198843.2NP_942140.2  pulmonary surfactant-associated protein B precursor

    See identical proteins and their annotated locations for NP_942140.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 3' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB439563, AL548140, AW204600, BC032785, CA437348
    Consensus CDS
    CCDS1983.2
    UniProtKB/Swiss-Prot
    P07988
    UniProtKB/TrEMBL
    D6W5L6
    Related
    ENSP00000386346.1, OTTHUMP00000203253, ENST00000409383.5, OTTHUMT00000329848
    Conserved Domains (4) summary
    smart00741
    Location:79155
    SapB; Saposin (B) Domains
    pfam03489
    Location:124155
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:81115
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:4073
    SapA; Saposin A-type domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    85657317..85668741 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004703.1XP_016860192.1  pulmonary surfactant-associated protein B isoform X2

    Related
    ENSP00000415347.1, OTTHUMP00000203252, ENST00000428225.5, OTTHUMT00000329847
    Conserved Domains (4) summary
    smart00741
    Location:67143
    SapB; Saposin (B) Domains
    pfam03489
    Location:112143
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:69103
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:2861
    SapA; Saposin A-type domain
  2. XM_017004702.1XP_016860191.1  pulmonary surfactant-associated protein B isoform X1

    UniProtKB/TrEMBL
    D6W5L6
    Conserved Domains (4) summary
    smart00741
    Location:79155
    SapB; Saposin (B) Domains
    pfam03489
    Location:124155
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:81115
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:4073
    SapA; Saposin A-type domain
  3. XM_005264488.3XP_005264545.2  pulmonary surfactant-associated protein B isoform X2

    Conserved Domains (4) summary
    smart00741
    Location:67143
    SapB; Saposin (B) Domains
    pfam03489
    Location:112143
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:69103
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:2861
    SapA; Saposin A-type domain
  4. XM_005264487.2XP_005264544.1  pulmonary surfactant-associated protein B isoform X1

    See identical proteins and their annotated locations for XP_005264544.1

    UniProtKB/TrEMBL
    D6W5L6
    Conserved Domains (4) summary
    smart00741
    Location:79155
    SapB; Saposin (B) Domains
    pfam03489
    Location:124155
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:81115
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:4073
    SapA; Saposin A-type domain
  5. XM_005264490.4XP_005264547.2  pulmonary surfactant-associated protein B isoform X3

    Conserved Domains (4) summary
    smart00741
    Location:67143
    SapB; Saposin (B) Domains
    pfam03489
    Location:112143
    SapB_2; Saposin-like type B, region 2
    pfam05184
    Location:69103
    SapB_1; Saposin-like type B, region 1
    cl02494
    Location:2861
    SapA; Saposin A-type domain

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    85814217..85825673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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