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

Gene ID: 342618, updated on 25-Jan-2022

Summary

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

See SLFN14 in Genome Data Viewer
Location:
17q12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35543985..35560819, complement)
105.20201022 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 pseudogene Neighboring gene uncharacterized LOC107985032 Neighboring gene uncharacterized LOC107985033 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables endoribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables endoribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ribosome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ribosome binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA phosphodiester bond hydrolysis, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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
PubMed 
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 

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_001129820.2NP_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
    P0C7P3
    Related
    ENSP00000501524.1, ENST00000674182.1
    Conserved Domains (1) summary
    PHA02782
    Location:48345
    PHA02782; hypothetical protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P0C7P3
    Related
    ENSP00000391101.2, ENST00000415846.3
    Conserved Domains (1) summary
    PHA02782
    Location:48345
    PHA02782; hypothetical protein; Provisional
  2. XM_017024577.1XP_016880066.1  protein SLFN14 isoform X1

    UniProtKB/Swiss-Prot
    P0C7P3
    Conserved Domains (1) summary
    PHA02782
    Location:48345
    PHA02782; hypothetical protein; Provisional
  3. XM_017024579.1XP_016880068.1  protein SLFN14 isoform X1

    UniProtKB/Swiss-Prot
    P0C7P3
    Conserved Domains (1) summary
    PHA02782
    Location:48345
    PHA02782; hypothetical protein; Provisional
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