SFTPA1 surfactant protein A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SFTPA1provided by HGNC
Official Full Name: surfactant protein A1provided by HGNC
Primary source: HGNC:HGNC:10798
See related: Ensembl:ENSG00000122852 MIM:178630; AllianceGenome:HGNC:10798
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: SPA; ILD1; PSAP; PSPA; SP-A; SPA1; PSP-A; SFTP1; SP-A1; COLEC4; SFTPA1B; SP-A1 beta; SP-A1 delta; SP-A1 gamma; SP-A1 epsilon
Summary: 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]
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. [13 Feb 2013]
Expression: Restricted expression toward lung (RPKM 4554.3) See more
Orthologs: all
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Genomic context

Location:: 10q22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79610939..79615455)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80480108..80484632)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81370695..81375211)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx.
Title: Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx.
Human surfactant protein A inhibits SARS-CoV-2 infectivity and alleviates lung injury in a mouse infection model.
Title: Human surfactant protein A inhibits SARS-CoV-2 infectivity and alleviates lung injury in a mouse infection model.
Immunoregulatory function of SP-A.
Title: Immunoregulatory function of SP-A.
Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
Title: Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
Title: Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
SFTPA1 is a potential prognostic biomarker correlated with immune cell infiltration and response to immunotherapy in lung adenocarcinoma.
Title: SFTPA1 is a potential prognostic biomarker correlated with immune cell infiltration and response to immunotherapy in lung adenocarcinoma.
Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population.
Title: Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population.
Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
Title: Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
Title: Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Title: Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (158)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Interstitial lung disease 1 MedGen: C5562021 OMIM: 619611 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Studies with dendritic cells (DCs) demonstrate that SP-A enhances the binding of gp120 to DCs, the uptake of viral particles, and the transfer of virus from DCs to CD4+ T cells	PubMed
	env	Competition assays with CD4 and mAbs suggest that SP-A inhibits infectivity by occlusion of the CD4-binding site on gp120	PubMed
	env	Surfactant protein A (SP-A) binds to HIV-1 gp120 through the high mannose structures on gp120	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17690 (e-PCR)
- UniSTS:9744

NoName (e-PCR)
- UniSTS:482853

SFTPA1 (e-PCR)
- UniSTS:254006

STS-T63485 (e-PCR)
- UniSTS:70723

RH75329 (e-PCR)
- UniSTS:89961

RH93200 (e-PCR)
- UniSTS:87408

GDB:193873 (e-PCR)
- UniSTS:155781

GDB:278158 (e-PCR)
- UniSTS:156375

Clone Names

FLJ50593, FLJ51913, FLJ61144, FLJ77898, FLJ79095, FLJ99559, MGC133365, MGC198590

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables lipid transporter activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in opsonization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory gaseous exchange by respiratory system	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle	TAS Traceable Author Statement more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellar body	TAS Traceable Author Statement more info
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pulmonary surfactant-associated protein A1

Names: 35 kDa pulmonary surfactant-associated protein; alveolar proteinosis protein; collectin-4; surfactant protein A1B; surfactant, pulmonary-associated protein A1A; surfactant, pulmonary-associated protein A1B

NCBI Reference Sequences (RefSeq)

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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

NG_021189.1 RefSeqGene

Range

5001..9505

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001093770.3 → NP_001087239.2 pulmonary surfactant-associated protein A1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001087239.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and includes an additional segment in the 5' coding region, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK290703, BM996243, BX248123

Consensus CDS

CCDS44444.2

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Related

ENSP00000397082.2, ENST00000419470.6

Conserved Domains (2) summary

cd03591
Location:151 → 263

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:43 → 115

Collagen; Collagen triple helix repeat (20 copies)
NM_001164644.2 → NP_001158116.1 pulmonary surfactant-associated protein A1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001158116.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).

Source sequence(s)

BM996243, BX248123, DA588383, M13686

Consensus CDS

CCDS44445.1

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Conserved Domains (2) summary

cd03591
Location:136 → 248

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:28 → 100

Collagen; Collagen triple helix repeat (20 copies)
NM_001164645.2 → NP_001158117.1 pulmonary surfactant-associated protein A1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, includes an additional segment in the 5' coding region, and lacks an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (3) is overall shorter but has a longer and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK298002, BM996243, BX248123

UniProtKB/TrEMBL

B4DNP6

Conserved Domains (2) summary

cd03591
Location:102 → 214

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:43 → 66

Collagen; Collagen triple helix repeat (20 copies)
NM_001164646.2 → NP_001158118.1 pulmonary surfactant-associated protein A1 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an in-frame segment in the central coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.

Source sequence(s)

BM996243, BX248123, DA588383

UniProtKB/TrEMBL

B7Z4Y9

Conserved Domains (2) summary

cd03591
Location:87 → 199

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:28 → 51

Collagen; Collagen triple helix repeat (20 copies)
NM_001164647.1 → NP_001158119.1 pulmonary surfactant-associated protein A1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001158119.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).

Source sequence(s)

BC111570, BM996243, BX248123, DA588383

Consensus CDS

CCDS44445.1

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Related

ENSP00000411102.2, ENST00000428376.6

Conserved Domains (2) summary

cd03591
Location:136 → 248

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:28 → 100

Collagen; Collagen triple helix repeat (20 copies)
NM_005411.5 → NP_005402.3 pulmonary surfactant-associated protein A1 isoform 1 precursor

See identical proteins and their annotated locations for NP_005402.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3 and 4 encode the same isoform (1).

Source sequence(s)

BI820937, BM996243, BX248123, DA588383

Consensus CDS

CCDS44445.1

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Related

ENSP00000381633.3, ENST00000398636.8

Conserved Domains (2) summary

cd03591
Location:136 → 248

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:28 → 100

Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

79610939..79615455

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270062.6 → XP_005270119.1 pulmonary surfactant-associated protein A1 isoform X2

See identical proteins and their annotated locations for XP_005270119.1

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Conserved Domains (2) summary

cd03591
Location:136 → 248

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:28 → 100

Collagen; Collagen triple helix repeat (20 copies)
XM_047425668.1 → XP_047281624.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425674.1 → XP_047281630.1 pulmonary surfactant-associated protein A1 isoform X2

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
XM_047425672.1 → XP_047281628.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425670.1 → XP_047281626.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425669.1 → XP_047281625.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425667.1 → XP_047281623.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425673.1 → XP_047281629.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425671.1 → XP_047281627.1 pulmonary surfactant-associated protein A1 isoform X1
XM_047425675.1 → XP_047281631.1 pulmonary surfactant-associated protein A1 isoform X2

UniProtKB/Swiss-Prot

A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
XM_006717953.3 → XP_006718016.1 pulmonary surfactant-associated protein A1 isoform X1

See identical proteins and their annotated locations for XP_006718016.1

UniProtKB/TrEMBL

B2R7Z9, E3VLD0

Conserved Domains (2) summary

cd03591
Location:151 → 263

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

pfam01391
Location:43 → 115

Collagen; Collagen triple helix repeat (20 copies)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

80480108..80484632

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366641.1 → XP_054222616.1 pulmonary surfactant-associated protein A1 isoform X2

UniProtKB/TrEMBL

K4N2H0
XM_054366635.1 → XP_054222610.1 pulmonary surfactant-associated protein A1 isoform X1
XM_054366629.1 → XP_054222604.1 pulmonary surfactant-associated protein A1 isoform X3
XM_054366634.1 → XP_054222609.1 pulmonary surfactant-associated protein A1 isoform X1
XM_054366630.1 → XP_054222605.1 pulmonary surfactant-associated protein A1 isoform X4
XM_054366633.1 → XP_054222608.1 pulmonary surfactant-associated protein A1 isoform X1
XM_054366637.1 → XP_054222612.1 pulmonary surfactant-associated protein A1 isoform X5
XM_054366632.1 → XP_054222607.1 pulmonary surfactant-associated protein A1 isoform X1
XM_054366638.1 → XP_054222613.1 pulmonary surfactant-associated protein A1 isoform X5
XM_054366628.1 → XP_054222603.1 pulmonary surfactant-associated protein A1 isoform X3
XM_054366631.1 → XP_054222606.1 pulmonary surfactant-associated protein A1 isoform X4
XM_054366643.1 → XP_054222618.1 pulmonary surfactant-associated protein A1 isoform X2

UniProtKB/TrEMBL

K4N2H0
XM_054366636.1 → XP_054222611.1 pulmonary surfactant-associated protein A1 isoform X1
XM_054366639.1 → XP_054222614.1 pulmonary surfactant-associated protein A1 isoform X5
XM_054366640.1 → XP_054222615.1 pulmonary surfactant-associated protein A1 isoform X5
XM_054366642.1 → XP_054222617.1 pulmonary surfactant-associated protein A1 isoform X2

UniProtKB/TrEMBL

K4N2H0