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Protein

5' exonuclease Apollo

Gene

DCLRE1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint.9 Publications

Miscellaneous

Was named 'Apollo' in reference to the twin brother of 'Artemis' in Greek mythology (PubMed:16730175 and PubMed:16730176). Artemis/DCLRE1C is a related nuclease.

GO - Molecular functioni

  • 5'-3' exodeoxyribonuclease activity Source: GO_Central
  • 5'-3' exonuclease activity Source: UniProtKB
  • damaged DNA binding Source: GO_Central
  • protein-containing complex binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionExonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
5' exonuclease Apollo (EC:3.1.-.-)
Alternative name(s):
DNA cross-link repair 1B protein
SNM1 homolog B
Short name:
SNMIB
Short name:
hSNM1B
Gene namesi
Name:DCLRE1B
Synonyms:SNM1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000118655.4
HGNCiHGNC:17641 DCLRE1B
MIMi609683 gene
neXtProtiNX_Q9H816

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoskeleton, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

Hoyeraal-Hreidarsson syndrome (HHS)1 Publication
The gene represented in this entry may be involved in disease pathogenesis. An aberrant splice variant of DCLRE1B, designated Apollo-Delta, has been found in a patient with Hoyeraal-Hreidarsson syndrome (PubMed:20479256). Apollo-Delta hampers the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence, but maintains its DNA interstrand cross-link repair function in the whole genome.1 Publication
Disease descriptionA clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
See also OMIM:305000

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi14D → N in Apm3; abolishes exonuclease activity and function on telomere maintenance. Impairs interaction with SPAG5. 2 Publications1
Mutagenesisi33H → A in Apm1; abolishes exonuclease activity and function on telomere maintenance; when associated with N-35. 1 Publication1
Mutagenesisi35D → N in Apm2; abolishes exonuclease activity and function on telomere maintenance. In Apm1; abolishes exonuclease activity and function on telomere maintenance; when associated with A-33. 1 Publication1
Mutagenesisi276H → A: Slightly affects interaction with SPAG5. 1 Publication1
Mutagenesisi504Y → A: Abolishes interaction with TERF2. 1 Publication1
Mutagenesisi506L → A: Abolishes interaction with TERF2. 1 Publication1
Mutagenesisi508P → A: Abolishes interaction with TERF2. 1 Publication1

Keywords - Diseasei

Dyskeratosis congenita

Organism-specific databases

DisGeNETi64858
MIMi305000 phenotype
OpenTargetsiENSG00000118655
PharmGKBiPA27175

Polymorphism and mutation databases

BioMutaiDCLRE1B
DMDMi73620756

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002091191 – 5325' exonuclease ApolloAdd BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki333Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Ubiquitinated, leading to its degradation. Interaction with TERF2 protects it from ubiquitination.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9H816
PaxDbiQ9H816
PeptideAtlasiQ9H816
PRIDEiQ9H816
ProteomicsDBi81169

PTM databases

iPTMnetiQ9H816
PhosphoSitePlusiQ9H816

Expressioni

Gene expression databases

BgeeiENSG00000118655 Expressed in 169 organ(s), highest expression level in secondary oocyte
CleanExiHS_DCLRE1B
GenevisibleiQ9H816 HS

Organism-specific databases

HPAiHPA064934

Interactioni

Subunit structurei

Interacts with TERF2; the interaction is direct. Interacts with MUS81, MRE11 and FANCD2. Interacts with HSPA2, HSPA8 and HSPA14. Interacts with SPAG5.10 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF2Q155549EBI-3508943,EBI-706637

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122331, 16 interactors
DIPiDIP-42669N
ELMiQ9H816
IntActiQ9H816, 16 interactors
MINTiQ9H816
STRINGi9606.ENSP00000358576

Structurei

Secondary structure

1532
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H816
SMRiQ9H816
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H816

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi496 – 511TBMAdd BLAST16

Domaini

The TBM domain mediates interaction with TERF2.

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1361 Eukaryota
COG1236 LUCA
GeneTreeiENSGT00530000063183
HOGENOMiHOG000043118
HOVERGENiHBG081420
KOiK15341
OMAiHPDIHII
OrthoDBiEOG091G0DBZ
PhylomeDBiQ9H816
TreeFamiTF329572

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR011084 DRMBL
IPR036866 RibonucZ/Hydroxyglut_hydro
PfamiView protein in Pfam
PF07522 DRMBL, 1 hit
SUPFAMiSSF56281 SSF56281, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H816-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNGVLIPHTP IAVDFWSLRR AGTARLFFLS HMHSDHTVGL SSTWARPLYC
60 70 80 90 100
SPITAHLLHR HLQVSKQWIQ ALEVGESHVL PLDEIGQETM TVTLLDANHC
110 120 130 140 150
PGSVMFLFEG YFGTILYTGD FRYTPSMLKE PALTLGKQIH TLYLDNTNCN
160 170 180 190 200
PALVLPSRQE AAHQIVQLIR KHPQHNIKIG LYSLGKESLL EQLALEFQTW
210 220 230 240 250
VVLSPRRLEL VQLLGLADVF TVEEKAGRIH AVDHMEICHS NMLRWNQTHP
260 270 280 290 300
TIAILPTSRK IHSSHPDIHV IPYSDHSSYS ELRAFVAALK PCQVVPIVSR
310 320 330 340 350
RPCGGFQDSL SPRISVPLIP DSVQQYMSSS SRKPSLLWLL ERRLKRPRTQ
360 370 380 390 400
GVVFESPEES ADQSQADRDS KKAKKEKLSP WPADLEKQPS HHPLRIKKQL
410 420 430 440 450
FPDLYSKEWN KAVPFCESQK RVTMLTAPLG FSVHLRSTDE EFISQKTREE
460 470 480 490 500
IGLGSPLVPM GDDDGGPEAT GNQSAWMGHG SPLSHSSKGT PLLATEFRGL
510 520 530
ALKYLLTPVN FFQAGYSSRR FDQQVEKYHK PC
Length:532
Mass (Da):60,002
Last modified:March 1, 2001 - v1
Checksum:i601A800CCD43CFDA
GO

Sequence cautioni

The sequence BAB14284 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237I → T in BAB14284 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02329246R → L1 PublicationCorresponds to variant dbSNP:rs28381069Ensembl.1
Natural variantiVAR_02329361H → Y1 PublicationCorresponds to variant dbSNP:rs11552449Ensembl.1
Natural variantiVAR_023294462D → N1 PublicationCorresponds to variant dbSNP:rs28381079EnsemblClinVar.1
Natural variantiVAR_048891510N → Y. Corresponds to variant dbSNP:rs35397235EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022872 mRNA Translation: BAB14284.1 Different initiation.
AK024060 mRNA Translation: BAB14807.1
AY849379 Genomic DNA Translation: AAV97812.1
AL137856 Genomic DNA No translation available.
BC029687 mRNA Translation: AAH29687.1
CCDSiCCDS866.1
RefSeqiNP_001306876.1, NM_001319947.1
NP_073747.1, NM_022836.3
UniGeneiHs.591412
Hs.628365

Genome annotation databases

EnsembliENST00000369563; ENSP00000358576; ENSG00000118655
GeneIDi64858
KEGGihsa:64858
UCSCiuc001eeg.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022872 mRNA Translation: BAB14284.1 Different initiation.
AK024060 mRNA Translation: BAB14807.1
AY849379 Genomic DNA Translation: AAV97812.1
AL137856 Genomic DNA No translation available.
BC029687 mRNA Translation: AAH29687.1
CCDSiCCDS866.1
RefSeqiNP_001306876.1, NM_001319947.1
NP_073747.1, NM_022836.3
UniGeneiHs.591412
Hs.628365

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BUAX-ray2.50E/F/G/H495-530[»]
5AHOX-ray2.16A1-335[»]
ProteinModelPortaliQ9H816
SMRiQ9H816
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122331, 16 interactors
DIPiDIP-42669N
ELMiQ9H816
IntActiQ9H816, 16 interactors
MINTiQ9H816
STRINGi9606.ENSP00000358576

PTM databases

iPTMnetiQ9H816
PhosphoSitePlusiQ9H816

Polymorphism and mutation databases

BioMutaiDCLRE1B
DMDMi73620756

Proteomic databases

EPDiQ9H816
PaxDbiQ9H816
PeptideAtlasiQ9H816
PRIDEiQ9H816
ProteomicsDBi81169

Protocols and materials databases

DNASUi64858
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369563; ENSP00000358576; ENSG00000118655
GeneIDi64858
KEGGihsa:64858
UCSCiuc001eeg.4 human

Organism-specific databases

CTDi64858
DisGeNETi64858
EuPathDBiHostDB:ENSG00000118655.4
GeneCardsiDCLRE1B
HGNCiHGNC:17641 DCLRE1B
HPAiHPA064934
MIMi305000 phenotype
609683 gene
neXtProtiNX_Q9H816
OpenTargetsiENSG00000118655
PharmGKBiPA27175
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1361 Eukaryota
COG1236 LUCA
GeneTreeiENSGT00530000063183
HOGENOMiHOG000043118
HOVERGENiHBG081420
KOiK15341
OMAiHPDIHII
OrthoDBiEOG091G0DBZ
PhylomeDBiQ9H816
TreeFamiTF329572

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

EvolutionaryTraceiQ9H816
GeneWikiiDCLRE1B
GenomeRNAii64858
PROiPR:Q9H816
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118655 Expressed in 169 organ(s), highest expression level in secondary oocyte
CleanExiHS_DCLRE1B
GenevisibleiQ9H816 HS

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR011084 DRMBL
IPR036866 RibonucZ/Hydroxyglut_hydro
PfamiView protein in Pfam
PF07522 DRMBL, 1 hit
SUPFAMiSSF56281 SSF56281, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDCR1B_HUMAN
AccessioniPrimary (citable) accession number: Q9H816
Secondary accession number(s): Q9H9E5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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