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

    Gene ID: 79991, updated on 8-Jul-2021

    Summary

    Official Symbol
    STN1provided by HGNC
    Official Full Name
    STN1 subunit of CST complexprovided by HGNC
    Primary source
    HGNC:HGNC:26200
    See related
    Ensembl:ENSG00000107960 MIM:613128
    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
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    Genomic context

    See STN1 in Genome Data Viewer
    Location:
    10q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (103877569..103918184, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105637327..105677942, 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
    GeneReviews: Not available
    Cerebroretinal microangiopathy with calcifications and cysts 2
    MedGen: C4479220 OMIM: 617341 GeneReviews: Not available
    Compare labs
    Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
    GeneReviews: Not available
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    GeneReviews: Not available
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    GeneReviews: Not available
    Identification of seven loci affecting mean telomere length and their association with disease.
    GeneReviews: Not available

    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
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables single-stranded DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables single-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of CST complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    CST complex subunit STN1
    Names
    STN1, CST complex subunit
    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)

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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.

    mRNA and Protein(s)

    1. NM_024928.5NP_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, ENST00000224950.8
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      103877569..103918184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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