Gene: SFTPA1 (surfactant protein A1)  Homo sapiens

Symbol: SFTPA1
Name: surfactant protein A1
Description: This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 35 kDa pulmonary surfactant-associated protein; alveolar proteinosis protein; COLEC4; collectin-4; FLJ50593; FLJ51913; FLJ61144; FLJ77898; FLJ79095; FLJ99559; MGC133365; MGC198590; OTTHUMP00000019928; OTTHUMP00000019929; OTTHUMP00000019930; OTTHUMP00000019931; PSAP; PSP-A; PSPA; pulmonary surfactant-associated protein A1; SFTP1; SFTPA1B; SP-A; SP-A1; SPA; SPA1; surfactant protein A1 variant AB'D' 6A; surfactant protein A1 variant AB'D' 6A2; surfactant protein A1 variant AB'D' 6A3; surfactant protein A1 variant AB'D' 6A4; surfactant protein A1 variant ACD' 6A; surfactant protein A1 variant ACD' 6A2; surfactant protein A1 variant ACD' 6A3; surfactant protein A1 variant ACD' 6A4; surfactant protein A1 variant AD' 6A; surfactant protein A1 variant AD' 6A2; surfactant protein A1 variant AD' 6A3; surfactant protein A1 variant AD' 6A4; surfactant protein A1B; surfactant, pulmonary-associated protein A1A; surfactant, pulmonary-associated protein A1B
Orthologs: Mus musculus : Sftpa1 (surfactant associated protein A1)  MGI
Rattus norvegicus : Sftpa1 (surfactant protein A1)
Latest Assembly: Human Genome Assembly GRCh37
NCBI Annotation Information: Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. The HUGO Gene Nomenclature Committee (HGNC) retired the symbol SFTPA1B, because its sequence is redundant with SFTPA1. [14 Jun 2007]
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11081,743,377 - 81,747,880+NCBI
Human Genome Assembly HuRef1075,365,719 - 75,370,230+NCBI
Human Genome Assembly GRCh371081,370,695 - 81,375,199+NCBI
Human Genome Assembly Build 361081,040,722 - 81,045,208+NCBI
Human Cytogenetic Map10q22.3 NCBI
Human Genome Assembly1081,360,663 - 81,363,921 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
Nomenclature History
 
More on SFTPA1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 736369
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2013-04-23
Status: ACTIVE