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    SFTA3 surfactant associated 3 [ Homo sapiens (human) ]

    Gene ID: 253970, updated on 17-Jun-2024

    Summary

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    Official Symbol
    SFTA3provided by HGNC
    Official Full Name
    surfactant associated 3provided by HGNC
    Primary source
    HGNC:HGNC:18387
    See related
    Ensembl:ENSG00000257520 MIM:617860; AllianceGenome:HGNC:18387
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPH; SP-H; NANCI; PAHRF; SFTPH
    Summary
    Involved in wound healing. Located in cytoplasm and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward lung (RPKM 71.4) See more
    Orthologs
    all
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    Genomic context

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    See SFTA3 in Genome Data Viewer
    Location:
    14q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (36473288..36519556, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (30662595..30708840, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36942493..36988761, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DPPA3 pseudogene 2 Neighboring gene RNA, U7 small nuclear 93 pseudogene Neighboring gene VISTA enhancer hs1538 Neighboring gene VISTA enhancer hs704 Neighboring gene VISTA enhancer hs1166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36974689-36975264 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:36977998-36978653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36983846-36984473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36986696-36987694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36988853-36989852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36989853-36990852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36990853-36991852 Neighboring gene uncharacterized LOC105370453 Neighboring gene NKX2-1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36994071-36995009 Neighboring gene NK2 homeobox 1 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:37025714-37025870 Neighboring gene ribosomal protein L29 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. SFTA3 - a novel surfactant protein of the ocular surface and its role in corneal wound healing and tear film surface tension. Schicht M, et al. Sci Rep, 2018 Jun 28. PMID 29955092, Free PMC Article
    2. Expression of recombinant surfactant protein SFTA3 in the human kidney cell line HEK 293T. Schröder H, et al. Ann Anat, 2017 May. PMID 28163207
    3. SFTA3, a novel protein of the lung: three-dimensional structure, characterisation and immune activation. Schicht M, et al. Eur Respir J, 2014 Aug. PMID 24743970
    4. The lncRNA PAHRF functions as a competing endogenous RNA to regulate MST1 expression by sponging miR-23a-3p in pulmonary arterial hypertension. Liu Y, et al. Vascul Pharmacol, 2021 Aug. PMID 34126237
    5. Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development. Herriges MJ, et al. Genes Dev, 2014 Jun 15. PMID 24939938, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SFTA3 at the ocular surface seemed to be involved in wound healing and the reduction of surface tension.
      Title: SFTA3 - a novel surfactant protein of the ocular surface and its role in corneal wound healing and tear film surface tension.
    2. In our present work we introduce a technique to synthesize, purify and stabilize recombinant SFTA3 derived from the human embryonic kidney cell line HEK 293T.
      Title: Expression of recombinant surfactant protein SFTA3 in the human kidney cell line HEK 293T.
    3. SFTA3 is an immunoregulatory protein of the lung with relevant protective functions during inflammation at the mucosal sites
      Title: SFTA3, a novel protein of the lung: three-dimensional structure, characterisation and immune activation.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Other Names

    • NKX2.1 associated non-coding intergenic RNA
    • Nkx2.1-associated noncoding intergenic RNA
    • pulmonary arterial hypertension related factor
    • putative protein SFTA3
    • surfactant-associated protein 3
    • surfactant-associated protein H

    Clone Names

    • FLJ23494

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in wound healing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellar body TAS
    Traceable Author Statement
    more info
    		  

    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.

    RNA

    1. NR_138597.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    2. NR_138598.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    3. NR_138599.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    4. NR_138600.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    5. NR_138601.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    6. NR_161362.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    7. NR_161363.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    8. NR_161364.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857

    9. NR_161365.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132857
      Related
      ENST00000521945.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      36473288..36519556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      30662595..30708840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001101341.1: Suppressed sequence

      Description
      NM_001101341.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    2. NM_001331217.1: Suppressed sequence

      Description
      NM_001331217.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    3. NM_001352986.1: Suppressed sequence

      Description
      NM_001352986.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    4. NM_001352987.1: Suppressed sequence

      Description
      NM_001352987.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7M3.1 GenPept UniProtKB/Swiss-Prot:P0C7M3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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