Sftpa1 MGI Mouse Gene Detail - MGI:109518 - surfactant associated protein A1

Symbol

Sftpa1
Name

surfactant associated protein A1
Synonyms

Sftp-1, Sftp1, SFTPA1, SP-A, surfactant pulmonary associated protein A1

Feature Type

protein coding gene
IDs

MGI:109518
NCBI Gene: 20387
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr14:40853745-40858330 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 22.36 cM
Mapping Data

13 experiments

SNPs within 2kb

227 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109518	protein coding gene	Chr14:40853739-40858409 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021197	protein coding gene	Chr14:34763360-34768030 (+)
A/J	MGP_AJ_G0021145	protein coding gene	Chr14:33415776-33420446 (+)
AKR/J	MGP_AKRJ_G0021122	protein coding gene	Chr14:34782107-34786777 (+)
BALB/cJ	MGP_BALBcJ_G0021149	protein coding gene	Chr14:33634210-33638880 (+)
C3H/HeJ	MGP_C3HHeJ_G0020932	protein coding gene	Chr14:34743899-34748569 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021581	protein coding gene	Chr14:36161275-36165945 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019143	protein coding gene	Chr14:33036870-33041095 (+)
CAST/EiJ	MGP_CASTEiJ_G0020457	protein coding gene	Chr14:34513514-34518182 (+)
CBA/J	MGP_CBAJ_G0020898	protein coding gene	Chr14:37390457-37395127 (+)
DBA/2J	MGP_DBA2J_G0021021	protein coding gene	Chr14:33375532-33380202 (+)
FVB/NJ	MGP_FVBNJ_G0021005	protein coding gene	Chr14:33312328-33316998 (+)
LP/J	MGP_LPJ_G0021090	protein coding gene	Chr14:35000584-35005290 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021031	protein coding gene	Chr14:37014184-37018854 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021614	protein coding gene	Chr14:34566215-34570921 (+)
PWK/PhJ	MGP_PWKPhJ_G0020205	protein coding gene	Chr14:32846235-32850903 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020029	protein coding gene	Chr14:34190496-34195376 (+)
WSB/EiJ	MGP_WSBEiJ_G0020512	protein coding gene	Chr14:34681404-34686074 (+)

Human Ortholog

SFTPA1, surfactant protein A1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SFTPA1, surfactant protein A1
Synonyms

COLEC4, ILD1, PSAP, PSP-A, PSPA, SFTP1, SFTPA1B, SP-A, SPA, SP-A1, SPA1, SP-A1 beta, SP-A1 delta, SP-A1 epsilon, SP-A1 gamma
Links

HGNC:10798

NCBI Gene ID: 653509

neXtProt AC: NX_Q8IWL2

UniProt: Q8IWL2
Chr Location

10q22.3; chr10:79610939-79615455 (+) GRCh38

Human Ortholog

SFTPA2, surfactant protein A2
Synonyms

COLEC5, ILD2, PSAP, PSP-A, PSPA, SFTP1, SFTPA2B, SP-2A, SP-A, SPA2, SPAII
Links

HGNC:10799

NCBI Gene ID: 729238

neXtProt AC: NX_Q8IWL1

UniProt: Q8IWL1
Chr Location

10q22.3; chr10:79555852-79560407 (-) GRCh38

MGI Vertebrate Homology

Sftpa1 stringent orthology
2 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SFTPA1, SFTPA2
Gene Tree

Sftpa1

Diseases

11 with human SFTPA1,SFTPA2 associations

				Human Disease	Mouse Models
				bronchopulmonary dysplasia IDs bronchopulmonary dysplasia DOID:11650 DOID:11651 ICD10CM:P27.1 MESH:D001997 NCI:C90599
				chronic obstructive pulmonary disease IDs chronic obstructive pulmonary disease DOID:3083 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 UMLS_CUI:C0024117
				idiopathic pulmonary fibrosis IDs idiopathic pulmonary fibrosis DOID:0050156 EFO:0000768 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35716 UMLS_CUI:C1800706
				interstitial lung disease 1 IDs interstitial lung disease 1 DOID:0060941 OMIM:619611 ORDO:2032
				interstitial lung disease 2 IDs interstitial lung disease 2 DOID:0060971 OMIM:178500
				lung disease IDs lung disease DOID:850 DOID:11894 DOID:11895 DOID:29 DOID:766 ICD10CM:J98.4 MESH:D008171 NCI:C3198 UMLS_CUI:C0024115
				newborn respiratory distress syndrome IDs newborn respiratory distress syndrome DOID:12716 DOID:11395 DOID:13859 ICD10CM:P22.0 MESH:D006819 OMIM:267450 UMLS_CUI:C0020192
				pulmonary edema IDs pulmonary edema DOID:11396 DOID:13472 ICD10CM:J81 MESH:D011654 NCI:C26868 UMLS_CUI:C0034063
				pulmonary fibrosis IDs pulmonary fibrosis DOID:3770 MESH:D011658 NCI:C26869 UMLS_CUI:C0034069
				pulmonary tuberculosis IDs pulmonary tuberculosis DOID:2957 ICD10CM:A15 ICD9CM:011 ICD9CM:011.9 ICD9CM:011.90 MESH:D014397 NCI:C26899 UMLS_CUI:C0041327
				respiratory syncytial virus infectious disease IDs respiratory syncytial virus infectious disease DOID:1273 MESH:D018357 NCI:C3354 UMLS_CUI:C0035235

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

15 phenotypes from 2 alleles in 5 genetic backgrounds
7 phenotypes from multigenic genotypes
145 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

3
Targeted

6
Transgenic

1
Genomic Mutations

1 involving Sftpa1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.

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All GO Annotations

11
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

887
Tissues

40
cDNA Data

31
Literature Summary

110

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sftpa1

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All Sequences

37
RefSeq

2
UniProt

3
CCDS

CCDS26960.1

Ensembl

ENSMUSG00000021789 (Evidence)
NCBI Gene

20387

			Length	Strain/Species	Flank
genomic	20387	NCBI Gene Model \| MGI Sequence Detail	4586	C57BL/6J	± kb
transcript	NM_023134	RefSeq \| MGI Sequence Detail	2775	ZRU/MplStud
polypeptide	P35242	UniProt \| EBI \| MGI Sequence Detail	248	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000015945 pulmonary surfactant-associated protein A

(term hierarchy)
InterPro Domains

IPR033990 Collectin, C-type lectin-like domain

IPR050111 C-type lectin and snaclec domain-containing protein

IPR018378 C-type lectin, conserved site

IPR016187 C-type lectin fold

IPR001304 C-type lectin-like

IPR016186 C-type lectin-like/link domain superfamily
GlyGen

P35242 2 sites

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All nucleic 62

Genomic 8

cDNA 34

Primer pair 14

Other 6

Microarray probesets 4

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MGD-MRK-14377, MGD-MRK-14380, MGD-MRK-39517

Summaries

All 311

Developmental Gene Expression 110

Gene Ontology 5

Phenotypes 145
Earliest

J:44870 Ten Have-Opbroek AA, Lung development in the mouse embryo. Exp Lung Res. 1991 Mar-Apr;17(2):111-30
Latest

J:359444 Jiang H, et al., Divergent sensory pathways of sneezing and coughing. Cell. 2024 Oct 17;187(21):5981-5997.e14

TSS for Sftpa1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr125170	Chr14:40853734-40853751 (+)	-2 bp
Tssr125171	Chr14:40854253-40854261 (+)	512 bp
Tssr125172	Chr14:40856057-40856068 (+)	2,318 bp
Tssr125173	Chr14:40856261-40856272 (+)	2,522 bp
Tssr125174	Chr14:40856363-40856370 (+)	2,622 bp
Tssr125175	Chr14:40856593-40856609 (+)	2,856 bp
Tssr125176	Chr14:40858302-40858312 (+)	4,562 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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