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    STN1 STN1, CST complex subunit [ Homo sapiens (human) ]

    Gene ID: 79991, updated on 12-Aug-2018

    Summary

    Official Symbol
    STN1provided by HGNC
    Official Full Name
    STN1, CST complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:26200
    See related
    Ensembl:ENSG00000107960 MIM:613128; Vega:OTTHUMG00000018996
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAF44; OBFC1; AAF-44; RPA-32; bA541N10.2
    Summary
    OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
    Expression
    Ubiquitous expression in testis (RPKM 3.8), lung (RPKM 3.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See STN1 in Genome Data Viewer
    Location:
    10q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (103877558..103918287, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105637316..105678045, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SH3 and PX domains 2A Neighboring gene NFE2L2 motif-containing MPRA enhancer 292 Neighboring gene SH3PXD2A antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 190 Neighboring gene uncharacterized LOC102724351 Neighboring gene RNA, 7SL, cytoplasmic 524, pseudogene Neighboring gene STE20 like kinase

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cerebroretinal microangiopathy with calcifications and cysts 2
    MedGen: C4479220 OMIM: 617341 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
    NHGRI GWA Catalog
    Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
    NHGRI GWA Catalog
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    NHGRI GWA Catalog
    Identification of seven loci affecting mean telomere length and their association with disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Lung fibrosis, organism-specific biosystem (from WikiPathways)
      Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22559

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    single-stranded telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    single-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of telomere maintenance via telomerase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    telomere capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    telomere capping TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance via telomere lengthening IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    telomere maintenance via telomere lengthening IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    CST complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    CST complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromosome, telomeric region HDA PubMed 
    nuclear chromosome, telomeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    CST complex subunit STN1
    Names
    alpha accessory factor 44
    oligonucleotide/oligosaccharide binding fold containing 1
    oligonucleotide/oligosaccharide-binding fold-containing protein 1
    replication protein A 32 kDa subunit
    suppressor of cdc thirteen homolog

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_024928.4NP_079204.2  CST complex subunit STN1

      See identical proteins and their annotated locations for NP_079204.2

      Status: VALIDATED

      Source sequence(s)
      AL133355
      Consensus CDS
      CCDS7552.1
      UniProtKB/Swiss-Prot
      Q9H668
      Related
      ENSP00000224950.3, OTTHUMP00000020417, ENST00000224950.7, OTTHUMT00000050174
      Conserved Domains (2) summary
      cd04483
      Location:58155
      hOBFC1_like; hOBFC1_like: A subfamily of OB folds similar to that found in human OB fold containing protein 1 (hOBFC1). Members of this group belong to the Replication protein A subunit 2 (RPA2) family of OB folds. RPA is a nuclear ssDNA binding protein (SSB) which ...
      pfam09170
      Location:157334
      STN1_2; CST, Suppressor of cdc thirteen homolog, complex subunit STN1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      103877558..103918287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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