Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    SFTPC surfactant protein C [ Homo sapiens (human) ]

    Gene ID: 6440, updated on 6-Aug-2017
    Official Symbol
    SFTPCprovided by HGNC
    Official Full Name
    surfactant protein Cprovided by HGNC
    Primary source
    HGNC:HGNC:10802
    See related
    Ensembl:ENSG00000168484 MIM:178620; Vega:OTTHUMG00000163775
    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-C; PSP-C; SFTP2; SMDP2; BRICD6
    Summary
    This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
    Orthologs
    Location:
    8p21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (22161671..22164479)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22014853..22021992)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene receptor accessory protein 4 Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene bone morphogenetic protein 1 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein

    • 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?

    Associated conditions

    Description Tests
    Idiopathic fibrosing alveolitis, chronic form
    MedGen: C1800706 OMIM: 178500 GeneReviews: Pulmonary Fibrosis, Familial
    Compare labs
    Surfactant metabolism dysfunction, pulmonary, 2
    MedGen: C1970470 OMIM: 610913 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    lamellar body TAS
    Traceable Author Statement
    more info
     
    multivesicular body lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    pulmonary surfactant-associated protein C
    Names
    BRICHOS domain containing 6
    SP5
    pulmonary surfactant apoprotein-2 SP-C
    pulmonary surfactant-associated proteolipid SPL(Val)

    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_016968.1 RefSeqGene

      Range
      5001..7809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172357.1NP_001165828.1  pulmonary surfactant-associated protein C isoform 2 precursor

      See identical proteins and their annotated locations for NP_001165828.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment in the 3' coding region and has an additional segment in the 3' UTR, as compared to variant 1. The transcript is longer than variant 1, but encodes a shorter isoform (2), as compared to isoform 1.
      Source sequence(s)
      BC105594, BM993053, J03553
      Consensus CDS
      CCDS55209.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      A0A0A0MTC9
      Related
      ENSP00000430410.1, OTTHUMP00000224821, ENST00000521315.5, OTTHUMT00000375365
      Conserved Domains (3) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:94191
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:193
      SP_C-Propep; Surfactant protein C, N terminal propeptide
    2. NM_001172410.1NP_001165881.1  pulmonary surfactant-associated protein C isoform 1 precursor

      See identical proteins and their annotated locations for NP_001165881.1

      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 isoform 1.
      Source sequence(s)
      AK315742, BC005913, BQ027183, J03553
      Consensus CDS
      CCDS43722.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Conserved Domains (3) summary
      smart00019
      Location:1197
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:94197
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:193
      SP_C-Propep; Surfactant protein C, N terminal propeptide
    3. NM_001317778.1NP_001304707.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 3-5 encode the same isoform (2).
      Source sequence(s)
      BF433929, BG569816, BQ027183, J03553
      Consensus CDS
      CCDS55209.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      A0A0A0MTC9
      Conserved Domains (3) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:94191
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:193
      SP_C-Propep; Surfactant protein C, N terminal propeptide
    4. NM_001317779.1NP_001304708.1  pulmonary surfactant-associated protein C isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      BF433929, BI490051, BQ027183, J03553
      Consensus CDS
      CCDS83259.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      E5RI64
      Conserved Domains (3) summary
      smart00019
      Location:1144
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:41144
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:1540
      SP_C-Propep; Surfactant protein C, N terminal propeptide
    5. NM_001317780.1NP_001304709.1  pulmonary surfactant-associated protein C isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region and differs in the 3' UTR compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 3-5 encode the same isoform (2).
      Source sequence(s)
      BG535994, BI524154, BQ027183, J03553
      Consensus CDS
      CCDS55209.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      A0A0A0MTC9
      Conserved Domains (3) summary
      smart00019
      Location:1191
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:94191
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:193
      SP_C-Propep; Surfactant protein C, N terminal propeptide
    6. NM_003018.3NP_003009.2  pulmonary surfactant-associated protein C isoform 1 precursor

      See identical proteins and their annotated locations for NP_003009.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC105594, DB537043, J03517, J03553
      Consensus CDS
      CCDS43722.1
      UniProtKB/Swiss-Prot
      P11686
      UniProtKB/TrEMBL
      A0A0S2Z4Q0
      Related
      ENSP00000316152.3, OTTHUMP00000224820, ENST00000318561.7, OTTHUMT00000375364
      Conserved Domains (3) summary
      smart00019
      Location:1197
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:94197
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:193
      SP_C-Propep; Surfactant protein C, N terminal propeptide

    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_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      22161671..22164479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544613.2XP_011542915.1  pulmonary surfactant-associated protein C isoform X1

      See identical proteins and their annotated locations for XP_011542915.1

      UniProtKB/TrEMBL
      E5RI64
      Related
      ENSP00000429552.1, OTTHUMP00000224825, ENST00000524255.5, OTTHUMT00000375370
      Conserved Domains (3) summary
      smart00019
      Location:1144
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:41144
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
      pfam08999
      Location:1540
      SP_C-Propep; Surfactant protein C, N terminal propeptide

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      22220843..22223651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center