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

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; AllianceGenome:HGNC:26200
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: mouse all
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Genomic context

Location:: 10q24.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (103877569..103918184, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (104764812..104805419, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105637327..105677942, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CST-polymerase alpha-primase solves a second telomere end-replication problem.
Title: CST-polymerase α-primase solves a second telomere end-replication problem.
CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.
Title: CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.
Reconstitution of a telomeric replicon organized by CST.
Title: Reconstitution of a telomeric replicon organized by CST.
Structures of the human CST-Polalpha-primase complex bound to telomere templates.
Title: Structures of the human CST-Polα-primase complex bound to telomere templates.
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.
Title: Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
Title: Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
CST in maintaining genome stability: Beyond telomeres.
Title: CST in maintaining genome stability: Beyond telomeres.
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
Title: Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
An Indian child with Coats plus syndrome due to mutations in STN1.
Title: An Indian child with Coats plus syndrome due to mutations in STN1.
Human CST complex protects stalled replication forks by directly blocking MRE11 degradation of nascent-strand DNA.
Title: Human CST complex protects stalled replication forks by directly blocking MRE11 degradation of nascent-strand DNA.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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
Cerebroretinal microangiopathy with calcifications and cysts 2 MedGen: C4479220 OMIM: 617341 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57644 (e-PCR)
- UniSTS:1034

G62604 (e-PCR)
- UniSTS:139584

WI-14778 (e-PCR)
- UniSTS:36214

RH103069 (e-PCR)
- UniSTS:97403

RH121547 (e-PCR)
- UniSTS:134288

SHGC-58247 (e-PCR)
- UniSTS:31438

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	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	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA replication	ISS Inferred from Sequence or Structural Similarity more info
involved_in telomere capping	TAS Traceable Author Statement more info	PubMed
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomere lengthening	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of CST complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CST complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	HDA more info	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
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

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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)

NM_024928.5 → NP_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

D3DR99, Q5TCZ0, Q9H668

UniProtKB/TrEMBL

A0A8V8TM56

Related

ENSP00000224950.3, ENST00000224950.8

Conserved Domains (2) summary

cd04483
Location:58 → 155

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:157 → 334

STN1_2; CST, Suppressor of cdc thirteen homolog, complex subunit STN1