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

Gene ID: 342618, updated on 5-Mar-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
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Genomic context

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Location:
17q12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35543985..35560819, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36491903..36508738, complement)
105.20220307 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 mitochondrial import receptor subunit TOM20 homolog 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
  • 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 (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
    Title: Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
  2. SLFN14 gene mutations associated with bleeding.
    Title: SLFN14 gene mutations associated with bleeding.
  3. [SLFN14 inhibits LINE-1 transposition activity].
    Title: [SLFN14 inhibits LINE-1 transposition activity].
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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
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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_2023_10

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

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