STN1

Protein identityUniProt · HPA

UniProt accession

Q9H668

Gene

STN1

Ensembl

ENSG00000107960

Chromosome

10

Canonical length

368 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

368 residues, UniProt reviewed canonical sequence.

>Q9H668|STN1
     1  MQPGSSRCEE ETPSLLWGLD PVFLAFAKLY IRDILDMKES RQVPGVFLYN GHPIKQVDVL
    61  GTVIGVRERD AFYSYGVDDS TGVINCICWK KLNTESVSAA PSAARELSLT SQLKKLQETI
   121  EQKTKIEIGD TIRVRGSIRT YREEREIHAT TYYKVDDPVW NIQIARMLEL PTIYRKVYDQ
   181  PFHSSALEKE EALSNPGALD LPSLTSLLSE KAKEFLMENR VQSFYQQELE MVESLLSLAN
   241  QPVIHSASSD QVNFKKDTTS KAIHSIFKNA IQLLQEKGLV FQKDDGFDNL YYVTREDKDL
   301  HRKIHRIIQQ DCQKPNHMEK GCHFLHILAC ARLSIRPGLS EAVLQQVLEL LEDQSDIVST
   361  MEHYYTAF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STN1.

Disease | AllUniProt

Conditions STN1 is implicated in, by any mechanism.

• Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) MIM:617341

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cerebroretinal microangiopathy with calcifications and cysts 2
• Brain disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.22

gnomAD pLI

0

DepMap mean gene effect

-0.39

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of telomere maintenance via telomerase
• positive regulation of DNA replication
• telomere capping
• telomere maintenance
• telomere maintenance via telomere lengthening

Molecular functions

• single-stranded DNA binding
• single-stranded telomeric DNA binding
• telomeric DNA binding

Cellular components

• chromosome, telomeric region
• CST complex
• fibrillar center
• intermediate filament cytoskeleton
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• OB-fold nucleic acid binding domain, AA-tRNA synthetase-type
• Nucleic acid-binding, OB-fold
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• Replication factor A protein-like
• OB-fold nucleic acid binding domain
• CST complex subunit Stn1
• Stn1, C-terminal
• CST complex subunit Stn1, wHTH1 motif superfamily
• CST, complex subunit STN1, C terminal

KeywordsUniProt

• Chromosome
• DNA-binding
• Nucleus
• Telomere

InteractionsUniProt · HPA

Protein binding partners of STN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTC1
• POLA1
• POT1
• TEN1
• ACD
• LDLRAP1