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

Gene ID: 79991, updated on 22-Aug-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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