STN1
entrez
79991
canonical
uniprot
Q9H668
canonical
ensembl
ENSG00000107960
resolver
ensp
ENSP00000224950
resolver
ensp
ENSP00000358779
resolver
ensp
ENSP00000513621
resolver
ensp
ENSP00000513622
resolver
ensp
ENSP00000513623
resolver
ensp
ENSP00000513657
resolver
ensp
ENSP00000513658
resolver
ensp
ENSP00000513664
resolver
ensp
ENSP00000563799
resolver
ensp
ENSP00000563800
resolver
ensp
ENSP00000563801
resolver
ensp
ENSP00000640620
resolver
ensp
ENSP00000640621
resolver
ensp
ENSP00000640622
resolver
ensp
ENSP00000640623
resolver
enst
ENST00000224950
resolver
enst
ENST00000369764
resolver
enst
ENST00000698241
resolver
enst
ENST00000698242
resolver
enst
ENST00000698243
resolver
enst
ENST00000698297
resolver
enst
ENST00000698298
resolver
enst
ENST00000698304
resolver
enst
ENST00000893740
resolver
enst
ENST00000893741
resolver
enst
ENST00000893742
resolver
enst
ENST00000970561
resolver
enst
ENST00000970562
resolver
enst
ENST00000970563
resolver
enst
ENST00000970564
resolver
genesymbol
STN1
resolver
genesymbol_syn
OBFC1
resolver
hgnc
HGNC:26200
resolver
uniprot
D3DR99
resolver
uniprot
Q5TCZ0
resolver
uniprot_entry
STN1_HUMAN
resolver
uniprot_sec
D3DR99
resolver
uniprot_sec
Q5TCZ0
resolver
amino_acid_sequence
MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPGVFLYNGHPIKQVDVLGTVIGVRERDAFYSYGVDDSTGVINCICWKKLNTESVSAAPSAARELSLTSQLKKLQETIEQKTKIEIGDTIRVRGSIRTYREEREIHATTYYKVDDPVWNIQIARMLELPTIYRKVYDQPFHSSALEKEEALSNPGALDLPSLTSLLSEKAKEFLMENRVQSFYQQELEMVESLLSLANQPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLVFQKDDGFDNLYYVTREDKDLHRKIHRIIQQDCQKPNHMEKGCHFLHILACARLSIRPGLSEAVLQQVLELLEDQSDIVSTMEHYYTAF
uniprot
proteins
disease_involvement
DISEASE: Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341]: An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. {ECO:0000269|PubMed:27432940}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445, PubMed:22964711). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664). {ECO:0000269|PubMed:19648609, ECO:0000269|PubMed:19854130, ECO:0000269|PubMed:22763445, ECO:0000269|PubMed:22863775, ECO:0000269|PubMed:22964711, ECO:0000269|PubMed:23142664, ECO:0000269|PubMed:25483097, ECO:0000305|PubMed:23851344}.; FUNCTION: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites. {ECO:0000269|PubMed:19648609, ECO:0000269|PubMed:19854130}.
uniprot
proteins
mass_dalton
42119
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="D->A: Defective of TEN1 binding; when associated with Ala-164 or Ala-167."; /evidence="ECO:0000269|PubMed:23826127"; MUTAGEN 164; /note="I->A: Defective of TEN1 binding; when associated with Ala-78."; /evidence="ECO:0000269|PubMed:23826127"; MUTAGEN 167; /note="M->A: Defective of TEN1 binding; when associated with Ala-78."; /evidence="ECO:0000269|PubMed:23826127
uniprot
proteins
protein_family
STN1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19648609
uniprot
proteins
pubmed
19854130
uniprot
proteins
pubmed
22763445
uniprot
proteins
pubmed
22863775
uniprot
proteins
pubmed
22964711
uniprot
proteins
pubmed
23142664
uniprot
proteins
pubmed
23826127
uniprot
proteins
pubmed
23851344
uniprot
proteins
pubmed
25483097
uniprot
proteins
pubmed
25519149
uniprot
proteins
pubmed
27432940
uniprot
proteins
sequence_length
368
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19854130}. Chromosome, telomere {ECO:0000269|PubMed:19648609, ECO:0000269|PubMed:19854130, ECO:0000269|PubMed:22763445}.
uniprot
proteins