UniProtKB - Q8NHP7 (EXD1_HUMAN)
Protein
piRNA biogenesis protein EXD1
Gene
EXD1
Organism
Homo sapiens (Human)
Status
Functioni
RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. In the PET complex, EXD1 probably acts as an RNA adapter. EXD1 is an inactive exonuclease (By similarity).By similarity
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- RNA binding Source: UniProtKB
GO - Biological processi
- gene silencing by RNA Source: UniProtKB
- meiotic cell cycle Source: UniProtKB-KW
- nucleic acid phosphodiester bond hydrolysis Source: GOC
- piRNA metabolic process Source: UniProtKB
Keywordsi
Molecular function | RNA-binding |
Biological process | Meiosis, RNA-mediated gene silencing |
Enzyme and pathway databases
PathwayCommonsi | Q8NHP7 |
Names & Taxonomyi
Protein namesi | Recommended name: piRNA biogenesis protein EXD1CuratedAlternative name(s): Exonuclease 3'-5' domain-containing protein 1Imported Exonuclease 3'-5' domain-like-containing protein 1Imported Inactive exonuclease EXD1Curated |
Gene namesi | Name:EXD1 Synonyms:EXDL1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000178997.11 |
HGNCi | HGNC:28507, EXD1 |
neXtProti | NX_Q8NHP7 |
Subcellular locationi
Other locations
- Cytoplasm By similarity
Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis.By similarity
Other locations
- P granule Source: UniProtKB
- PET complex Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 161829 |
OpenTargetsi | ENSG00000178997 |
PharmGKBi | PA164719420 |
Miscellaneous databases
Pharosi | Q8NHP7, Tdark |
Polymorphism and mutation databases
BioMutai | EXD1 |
DMDMi | 317373564 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000337244 | 1 – 514 | piRNA biogenesis protein EXD1Add BLAST | 514 |
Proteomic databases
jPOSTi | Q8NHP7 |
PaxDbi | Q8NHP7 |
PeptideAtlasi | Q8NHP7 |
PRIDEi | Q8NHP7 |
ProteomicsDBi | 6921 73731 [Q8NHP7-1] 73732 [Q8NHP7-2] |
PTM databases
iPTMneti | Q8NHP7 |
PhosphoSitePlusi | Q8NHP7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178997, Expressed in right testis and 68 other tissues |
ExpressionAtlasi | Q8NHP7, baseline and differential |
Genevisiblei | Q8NHP7, HS |
Organism-specific databases
HPAi | ENSG00000178997, Tissue enriched (testis) |
Interactioni
Subunit structurei
Homodimer (By similarity).
Component of the PET complex, at least composed of EXD1, PIWIL2, TDRD12 and piRNAs (By similarity).
By similarityBinary interactionsi
Hide detailsQ8NHP7
With | #Exp. | IntAct |
---|---|---|
EML2 [A0A0C4DGQ7] | 3 | EBI-10192266,EBI-12112376 |
EML2 [O95834] | 3 | EBI-10192266,EBI-1054588 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 127804, 1 interactor |
IntActi | Q8NHP7, 3 interactors |
STRINGi | 9606.ENSP00000415056 |
Miscellaneous databases
RNActi | Q8NHP7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 30 – 122 | 3'-5' exonucleaseSequence analysisAdd BLAST | 93 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 72 – 75 | Poly-Glu | 4 |
Domaini
The 3'-5' exonuclease domain lacks the conserved Asp-Glu-Asp-Asp (DEDD) residues that coordinates divalent ions essential for exonuclease activity.By similarity
Sequence similaritiesi
Belongs to the EXD1 family.Curated
Phylogenomic databases
eggNOGi | KOG2405, Eukaryota |
GeneTreei | ENSGT00390000003581 |
HOGENOMi | CLU_034376_1_0_1 |
OMAi | KEYRVNA |
OrthoDBi | 1535075at2759 |
PhylomeDBi | Q8NHP7 |
TreeFami | TF315023 |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR002562, 3'-5'_exonuclease_dom IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf |
Pfami | View protein in Pfam PF01612, DNA_pol_A_exo1, 1 hit |
SMARTi | View protein in SMART SM00474, 35EXOc, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NHP7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEDSEFLAYV ELLDEVEQGS VRAKASSVSL HAERTWMEKM KVEDLNVCEP
60 70 80 90 100
ASPAPEAPAT SLLNDLKYSP SEEEEVTYTV INQFQQKFGA AILHIKKQNV
110 120 130 140 150
LSVAAEGANV CRHGKLCWLQ VATNCRVYLF DIFLLGSRAF HNGLQMILED
160 170 180 190 200
KRILKVIHDC RWLSDCLSHQ YGILLNNVFD TQVADVLQFS METGGYLPNC
210 220 230 240 250
ITTLQESLIK HLQVAPKYLS FLEKRQKLIQ ENPEVWFIRP VSPSLLKILA
260 270 280 290 300
LEATYLLPLR LALLDEMMSD LTTLVDGYLN TYREGSADRL GGTEPTCMEL
310 320 330 340 350
PEELLQLKDF QKQRREKAAR EYRVNAQGLL IRTVLQPKKL VTETAGKEEK
360 370 380 390 400
VKGFLFGKNF RIDKAPSFTS QDFHGDVNLL KEESLNKQAT NPQHLPPTEE
410 420 430 440 450
GETSEDSSNK LICTKSKGSE DQRITQKEHF MTPKHEFQAS LSLKEETEQL
460 470 480 490 500
LMVENKEDLK CTKQAVSMSS FPQETRVSPS DTFYPIRKTV VSTLPPCPAL
510
EKIDSWISPF LNLP
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YK66 | H0YK66_HUMAN | piRNA biogenesis protein EXD1 | EXD1 | 55 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 32 | A → T in BAF85213 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043676 | 489 | T → A1 PublicationCorresponds to variant dbSNP:rs522063Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033987 | 1 – 229 | MEDSE…RQKLI → MSHCAQPKTVIFFKVLLTVQ RKLFYCL in isoform 2. 1 PublicationAdd BLAST | 229 | |
Alternative sequenceiVSP_054898 | 1 – 9 | MEDSEFLAY → MDPSSDYHFLSQILWKRVKL TLVCGVFEGVLQHVDPNKIV VLKKVKNVETGRSVPGVKLF FGHEIVN in isoform 3. 1 Publication | 9 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123414 mRNA Translation: BAC85610.1 AK292524 mRNA Translation: BAF85213.1 AK302864 mRNA Translation: BAH13825.1 AC012652 Genomic DNA No translation available. AC022408 Genomic DNA No translation available. BC030628 mRNA Translation: AAH30628.2 |
CCDSi | CCDS10072.1 [Q8NHP7-1] CCDS66738.1 [Q8NHP7-3] |
RefSeqi | NP_001273370.1, NM_001286441.1 [Q8NHP7-3] NP_689809.2, NM_152596.3 [Q8NHP7-1] XP_011519600.1, XM_011521298.2 [Q8NHP7-3] |
Genome annotation databases
Ensembli | ENST00000314992; ENSP00000321029; ENSG00000178997 [Q8NHP7-1] ENST00000458580; ENSP00000415056; ENSG00000178997 [Q8NHP7-3] |
GeneIDi | 161829 |
KEGGi | hsa:161829 |
UCSCi | uc001znk.5, human [Q8NHP7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123414 mRNA Translation: BAC85610.1 AK292524 mRNA Translation: BAF85213.1 AK302864 mRNA Translation: BAH13825.1 AC012652 Genomic DNA No translation available. AC022408 Genomic DNA No translation available. BC030628 mRNA Translation: AAH30628.2 |
CCDSi | CCDS10072.1 [Q8NHP7-1] CCDS66738.1 [Q8NHP7-3] |
RefSeqi | NP_001273370.1, NM_001286441.1 [Q8NHP7-3] NP_689809.2, NM_152596.3 [Q8NHP7-1] XP_011519600.1, XM_011521298.2 [Q8NHP7-3] |
3D structure databases
SMRi | Q8NHP7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127804, 1 interactor |
IntActi | Q8NHP7, 3 interactors |
STRINGi | 9606.ENSP00000415056 |
PTM databases
iPTMneti | Q8NHP7 |
PhosphoSitePlusi | Q8NHP7 |
Polymorphism and mutation databases
BioMutai | EXD1 |
DMDMi | 317373564 |
Proteomic databases
jPOSTi | Q8NHP7 |
PaxDbi | Q8NHP7 |
PeptideAtlasi | Q8NHP7 |
PRIDEi | Q8NHP7 |
ProteomicsDBi | 6921 73731 [Q8NHP7-1] 73732 [Q8NHP7-2] |
Protocols and materials databases
Antibodypediai | 23259, 138 antibodies |
DNASUi | 161829 |
Genome annotation databases
Ensembli | ENST00000314992; ENSP00000321029; ENSG00000178997 [Q8NHP7-1] ENST00000458580; ENSP00000415056; ENSG00000178997 [Q8NHP7-3] |
GeneIDi | 161829 |
KEGGi | hsa:161829 |
UCSCi | uc001znk.5, human [Q8NHP7-1] |
Organism-specific databases
CTDi | 161829 |
DisGeNETi | 161829 |
EuPathDBi | HostDB:ENSG00000178997.11 |
GeneCardsi | EXD1 |
HGNCi | HGNC:28507, EXD1 |
HPAi | ENSG00000178997, Tissue enriched (testis) |
neXtProti | NX_Q8NHP7 |
OpenTargetsi | ENSG00000178997 |
PharmGKBi | PA164719420 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2405, Eukaryota |
GeneTreei | ENSGT00390000003581 |
HOGENOMi | CLU_034376_1_0_1 |
OMAi | KEYRVNA |
OrthoDBi | 1535075at2759 |
PhylomeDBi | Q8NHP7 |
TreeFami | TF315023 |
Enzyme and pathway databases
PathwayCommonsi | Q8NHP7 |
Miscellaneous databases
BioGRID-ORCSi | 161829, 5 hits in 844 CRISPR screens |
ChiTaRSi | EXD1, human |
GenomeRNAii | 161829 |
Pharosi | Q8NHP7, Tdark |
PROi | PR:Q8NHP7 |
RNActi | Q8NHP7, protein |
Gene expression databases
Bgeei | ENSG00000178997, Expressed in right testis and 68 other tissues |
ExpressionAtlasi | Q8NHP7, baseline and differential |
Genevisiblei | Q8NHP7, HS |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR002562, 3'-5'_exonuclease_dom IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf |
Pfami | View protein in Pfam PF01612, DNA_pol_A_exo1, 1 hit |
SMARTi | View protein in SMART SM00474, 35EXOc, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EXD1_HUMAN | |
Accessioni | Q8NHP7Primary (citable) accession number: Q8NHP7 Secondary accession number(s): A8K909, B7Z839, Q6ZW94 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 20, 2008 |
Last sequence update: | January 11, 2011 | |
Last modified: | December 2, 2020 | |
This is version 139 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations