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    SLFN14 schlafen family member 14 [ Homo sapiens (human) ]

    Gene ID: 342618, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLFN14provided by HGNC
    Official Full Name
    schlafen family member 14provided by HGNC
    Primary source
    HGNC:HGNC:32689
    See related
    Ensembl:ENSG00000236320 MIM:614958; AllianceGenome:HGNC:32689
    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
    BDPLT20
    Summary
    The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in bone marrow (RPKM 1.6), spleen (RPKM 0.3) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLFN14 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35543985..35560819, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36491903..36508738, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33871004..33887838, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene schlafen family member 12 like Neighboring gene TATA-box binding protein associated factor 5 like pseudogene 1 Neighboring gene TOMM20 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12075 Neighboring gene uncharacterized LOC107985033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:33894487-33895169 Neighboring gene ribosomal protein L39 pseudogene 32 Neighboring gene small nucleolar RNA host gene 30 Neighboring gene small nucleolar RNA, C/D box 7

    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 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. Ribosome dysfunction underlies SLFN14-related thrombocytopenia. Ver Donck F, et al. Blood, 2023 May 4. PMID 36790527, Free PMC Article
    2. [SLFN14 inhibits LINE-1 transposition activity]. Mao Y, et al. Yi Chuan, 2020 Jul 20. PMID 32694106
    3. SLFN14 gene mutations associated with bleeding. Stapley RJ, et al. Platelets, 2020. PMID 31378119, Free PMC Article
    4. Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family. Su W, et al. Curr Med Sci, 2018 Dec. PMID 30536060
    5. Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation. Fletcher SJ, et al. RNA, 2018 Jul. PMID 29678925, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Schlafen14 Impairs HIV-1 Expression in a Codon Usage-Dependent Manner.
      Title: Schlafen14 Impairs HIV-1 Expression in a Codon Usage-Dependent Manner.
    2. Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
      Title: Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
    3. SLFN14 gene mutations associated with bleeding.
      Title: SLFN14 gene mutations associated with bleeding.
    4. [SLFN14 inhibits LINE-1 transposition activity].
      Title: [SLFN14 inhibits LINE-1 transposition activity].
    5. The mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD.
      Title: Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.
    6. SLFN14 colocalizes with ribosomes and causes the endoribonucleolytic degradation of rRNA in cells.
      Title: Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.
    7. these data suggest that SLFN14 is a novel antiviral factor for both DNA and RNA viruses
      Title: Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication.
    8. In a family with three affected individuals we found the c.667C>T variant in SLFN14 predicted to result in the p.Arg223Trp substitution within the ATPase- AAA-4 domain of SLFN14. The variant segregated with macrothrombocytopenia within the pedigree.
      Title: SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.
    9. These results identify SLFN14 mutations as cause for an inherited thrombocytopenia with excessive bleeding, outlining a fundamental role for SLFN14 in platelet formation and function.
      Title: SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
    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

    Associated conditions

    Description Tests
    Platelet-type bleeding disorder 20
    MedGen: C4310797 OMIM: 616913 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA endonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to magnesium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to manganese ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein SLFN14

    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

    1. NG_051181.1 RefSeqGene

      Range
      5023..21857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1114

    mRNA and Protein(s)

    1. NM_001129820.2 → NP_001123292.1  protein SLFN14

      See identical proteins and their annotated locations for NP_001123292.1

      Status: REVIEWED

      Source sequence(s)
      AC015911, BC157877, BU658532
      Consensus CDS
      CCDS45650.1
      UniProtKB/Swiss-Prot
      B2RTW9, P0C7P3
      Related
      ENSP00000501524.1, ENST00000674182.1
      Conserved Domains (1) summary
      PHA02782
      Location:48 → 345
      PHA02782; hypothetical protein; Provisional

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35543985..35560819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024578.2 → XP_016880067.1  protein SLFN14 isoform X1

      UniProtKB/Swiss-Prot
      B2RTW9, P0C7P3
      Related
      ENSP00000391101.2, ENST00000415846.3
      Conserved Domains (1) summary
      PHA02782
      Location:48 → 345
      PHA02782; hypothetical protein; Provisional

    2. XM_017024577.2 → XP_016880066.1  protein SLFN14 isoform X1

      UniProtKB/Swiss-Prot
      B2RTW9, P0C7P3
      Conserved Domains (1) summary
      PHA02782
      Location:48 → 345
      PHA02782; hypothetical protein; Provisional

    3. XM_017024579.2 → XP_016880068.1  protein SLFN14 isoform X1

      UniProtKB/Swiss-Prot
      B2RTW9, P0C7P3
      Conserved Domains (1) summary
      PHA02782
      Location:48 → 345
      PHA02782; hypothetical protein; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      36491903..36508738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315940.1 → XP_054171915.1  protein SLFN14 isoform X1

    2. XM_054315939.1 → XP_054171914.1  protein SLFN14 isoform X1

    3. XM_054315941.1 → XP_054171916.1  protein SLFN14 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7P3.2 GenPept UniProtKB/Swiss-Prot:P0C7P3

    Gene LinkOut

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

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