UniProtKB - Q8NAG6 (ANKL1_HUMAN)
Protein
Ankyrin repeat and LEM domain-containing protein 1
Gene
ANKLE1
Organism
Homo sapiens (Human)
Status
Functioni
Endonuclease that probably plays a role in the DNA damage response and DNA repair.2 Publications
GO - Molecular functioni
- endonuclease activity Source: UniProtKB
GO - Biological processi
- DNA repair Source: UniProtKB-KW
- nucleic acid phosphodiester bond hydrolysis Source: UniProtKB
- positive regulation of response to DNA damage stimulus Source: UniProtKB
- protein export from nucleus Source: UniProtKB
Keywordsi
Molecular function | Endonuclease, Hydrolase, Nuclease |
Biological process | DNA damage, DNA repair |
Enzyme and pathway databases
PathwayCommonsi | Q8NAG6 |
Names & Taxonomyi
Protein namesi | Recommended name: Ankyrin repeat and LEM domain-containing protein 1 (EC:3.1.-.-1 Publication)Alternative name(s): Ankyrin repeat domain-containing protein 41 LEM-domain containing protein 3 |
Gene namesi | Name:ANKLE1 Synonyms:ANKRD41, LEM3 |
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
HGNCi | HGNC:26812, ANKLE1 |
neXtProti | NX_Q8NAG6 |
VEuPathDBi | HostDB:ENSG00000160117.14 |
Pathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 110 – 117 | LRPLDLAL → ARPADAAA: Slight increase in nuclear localization. 1 Publication | 8 | |
Mutagenesisi | 271 – 280 | LNARLQALTL → ANARAQAATA: Increased nuclear localization. 1 Publication | 10 | |
Mutagenesisi | 453 | Y → A: Loss of endonucleolytic activity. 1 Publication | 1 | |
Mutagenesisi | 486 – 488 | YVG → AAA: Probable loss of endonucleolytic activity. Fails to induce DNA damage response upon leptomycin-mediated nuclear localization. No nuclear translocation upon treatment with DNA damaging agents. Steady state cytoplasmic localization is not affected. 1 Publication | 3 | |
Mutagenesisi | 488 | G → A: Loss of endonucleolytic activity. 1 Publication | 1 | |
Mutagenesisi | 551 | E → A: Loss of endonucleolytic activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 126549 |
OpenTargetsi | ENSG00000160117 |
PharmGKBi | PA162376509 |
Miscellaneous databases
Pharosi | Q8NAG6, Tbio |
Genetic variation databases
BioMutai | ANKLE1 |
DMDMi | 308153409 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000244370 | 1 – 615 | Ankyrin repeat and LEM domain-containing protein 1Add BLAST | 615 |
Proteomic databases
MassIVEi | Q8NAG6 |
PaxDbi | Q8NAG6 |
PeptideAtlasi | Q8NAG6 |
PRIDEi | Q8NAG6 |
ProteomicsDBi | 72677 [Q8NAG6-2] 72678 [Q8NAG6-1] |
PTM databases
iPTMneti | Q8NAG6 |
PhosphoSitePlusi | Q8NAG6 |
Expressioni
Tissue specificityi
Expression is predominant in adult bone marrow.1 Publication
Developmental stagei
Expressed in fetal spleen, liver and thymus.1 Publication
Gene expression databases
Bgeei | ENSG00000160117, Expressed in bone marrow and 115 other tissues |
ExpressionAtlasi | Q8NAG6, baseline and differential |
Genevisiblei | Q8NAG6, HS |
Organism-specific databases
HPAi | ENSG00000160117, Tissue enhanced (bone marrow, brain, lymphoid tissue) |
Interactioni
Subunit structurei
Interacts (via LEM domain) with BANF1; the interaction may favor BANF1 dimerization.
1 PublicationProtein-protein interaction databases
STRINGi | 9606.ENSP00000377971 |
Miscellaneous databases
RNActi | Q8NAG6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 39 – 71 | ANK 1Add BLAST | 33 | |
Repeati | 75 – 104 | ANK 2Add BLAST | 30 | |
Repeati | 108 – 137 | ANK 3Add BLAST | 30 | |
Domaini | 355 – 399 | LEMPROSITE-ProRule annotationAdd BLAST | 45 | |
Domaini | 448 – 566 | GIY-YIGPROSITE-ProRule annotationAdd BLAST | 119 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 271 – 280 | Nuclear export signal1 Publication | 10 | |
Motifi | 579 – 586 | Nuclear localization signal1 Publication | 8 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 582 – 585 | Poly-Arg | 4 |
Domaini
The LEM domain is required for GIY-YIG domain-mediated DNA cleavage and induction of DNA damage response.1 Publication
Keywords - Domaini
ANK repeat, RepeatPhylogenomic databases
eggNOGi | KOG4177, Eukaryota |
GeneTreei | ENSGT00510000049316 |
InParanoidi | Q8NAG6 |
OrthoDBi | 1451150at2759 |
PhylomeDBi | Q8NAG6 |
TreeFami | TF319333 |
Family and domain databases
Gene3Di | 1.10.720.40, 1 hit 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR034998, ANKLE1 IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR000305, GIY-YIG_endonuc IPR011015, LEM/LEM-like_dom_sf IPR003887, LEM_dom |
PANTHERi | PTHR46427, PTHR46427, 1 hit |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF03020, LEM, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 3 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF63451, SSF63451, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 2 hits PS50164, GIY_YIG, 1 hit PS50954, LEM, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NAG6-2) [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
MCSEARLARR LRDALREEEP WAVEELLRCG ADPNLVLEDG AAAVHLAAGA
60 70 80 90 100
RHPRGLRCLG ALLRQGGDPN ARSVEALTPL HVAAAWGCRR GLELLLSQGA
110 120 130 140 150
DPALRDQDGL RPLDLALQQG HLECARVLQD LDTRTRTRTR IGAETQEPEP
160 170 180 190 200
APGTPGLSGP TDETLDSIAL QKQPCRGDNR DIGLEADPGP PSLPVPLETV
210 220 230 240 250
DKHGSSASPP GHWDYSSDAS FVTAVEVSGA EDPASDTPPW AGSLPPTRQG
260 270 280 290 300
LLHVVHANQR VPRSQGTEAE LNARLQALTL TPPNAAGFQS SPSSMPLLDR
310 320 330 340 350
SPAHSPPRTP TPGASDCHCL WEHQTSIDSD MATLWLTEDE ASSTGGREPV
360 370 380 390 400
GPCRHLPVST VSDLELLKGL RALGENPHPI TPFTRQLYHQ QLEEAQIAPG
410 420 430 440 450
PEFSGHSLEL AAALRTGCIP DVQADEDALA QQFEQPDPAR RWREGVVKSS
460 470 480 490 500
FTYLLLDPRE TQDLPARAFS LTPAERLQTF IRAIFYVGKG TRARPYVHLW
510 520 530 540 550
EALGHHGRSR KQPHQACPKV RQILDIWASG CGVVSLHCFQ HVVAVEAYTR
560 570 580 590 600
EACIVEALGI QTLTNQKQGH CYGVVAGWPP ARRRRLGVHL LHRALLVFLA
610
EGERQLHPQD IQARG
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0R002 | M0R002_HUMAN | Ankyrin repeat and LEM domain-conta... | ANKLE1 | 598 | Annotation score: | ||
M0QX15 | M0QX15_HUMAN | Ankyrin repeat and LEM domain-conta... | ANKLE1 | 589 | Annotation score: | ||
A0A499FJM0 | A0A499FJM0_HUMAN | Ankyrin repeat and LEM domain-conta... | ANKLE1 | 669 | Annotation score: | ||
A0A0A0MSC6 | A0A0A0MSC6_HUMAN | Ankyrin repeat and LEM domain-conta... | ANKLE1 | 385 | Annotation score: | ||
A0A494C092 | A0A494C092_HUMAN | Ankyrin repeat and LEM domain-conta... | ANKLE1 | 578 | Annotation score: |
Sequence cautioni
The sequence BAC04840 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 444 | E → G in BAC03953 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063681 | 31 | A → T1 PublicationCorresponds to variant dbSNP:rs8100241Ensembl. | 1 | |
Natural variantiVAR_063682 | 71 | A → V2 PublicationsCorresponds to variant dbSNP:rs1864116Ensembl. | 1 | |
Natural variantiVAR_033507 | 94 | L → Q1 PublicationCorresponds to variant dbSNP:rs8108174Ensembl. | 1 | |
Natural variantiVAR_061015 | 160 | P → S. Corresponds to variant dbSNP:rs59119993EnsemblClinVar. | 1 | |
Natural variantiVAR_033508 | 184 | L → W1 PublicationCorresponds to variant dbSNP:rs2363956Ensembl. | 1 | |
Natural variantiVAR_033509 | 311 | T → P2 PublicationsCorresponds to variant dbSNP:rs891017Ensembl. | 1 | |
Natural variantiVAR_033510 | 435 | Q → R2 PublicationsCorresponds to variant dbSNP:rs11086065Ensembl. | 1 | |
Natural variantiVAR_033511 | 447 | V → M. Corresponds to variant dbSNP:rs34112069EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039879 | 1 – 22 | MCSEA…EEPWA → MRCGRRSR in isoform 2. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_039880 | 374 – 399 | Missing in isoform 2. 1 PublicationAdd BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EU184013 mRNA Translation: ABW73565.1 AK092706 mRNA Translation: BAC03953.1 AK096688 mRNA Translation: BAC04840.1 Different initiation. AC010463 Genomic DNA No translation available. |
CCDSi | CCDS12354.3 [Q8NAG6-2] |
RefSeqi | NP_001265372.1, NM_001278443.1 NP_001265374.1, NM_001278445.1 [Q8NAG6-1] NP_689576.5, NM_152363.5 [Q8NAG6-2] |
Genome annotation databases
Ensembli | ENST00000404085; ENSP00000384008; ENSG00000160117 [Q8NAG6-2] |
GeneIDi | 126549 |
KEGGi | hsa:126549 |
UCSCi | uc002nga.3, human [Q8NAG6-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EU184013 mRNA Translation: ABW73565.1 AK092706 mRNA Translation: BAC03953.1 AK096688 mRNA Translation: BAC04840.1 Different initiation. AC010463 Genomic DNA No translation available. |
CCDSi | CCDS12354.3 [Q8NAG6-2] |
RefSeqi | NP_001265372.1, NM_001278443.1 NP_001265374.1, NM_001278445.1 [Q8NAG6-1] NP_689576.5, NM_152363.5 [Q8NAG6-2] |
3D structure databases
SMRi | Q8NAG6 |
ModBasei | Search... |
Protein-protein interaction databases
STRINGi | 9606.ENSP00000377971 |
PTM databases
iPTMneti | Q8NAG6 |
PhosphoSitePlusi | Q8NAG6 |
Genetic variation databases
BioMutai | ANKLE1 |
DMDMi | 308153409 |
Proteomic databases
MassIVEi | Q8NAG6 |
PaxDbi | Q8NAG6 |
PeptideAtlasi | Q8NAG6 |
PRIDEi | Q8NAG6 |
ProteomicsDBi | 72677 [Q8NAG6-2] 72678 [Q8NAG6-1] |
Protocols and materials databases
Antibodypediai | 27599, 38 antibodies |
Genome annotation databases
Ensembli | ENST00000404085; ENSP00000384008; ENSG00000160117 [Q8NAG6-2] |
GeneIDi | 126549 |
KEGGi | hsa:126549 |
UCSCi | uc002nga.3, human [Q8NAG6-2] |
Organism-specific databases
CTDi | 126549 |
DisGeNETi | 126549 |
GeneCardsi | ANKLE1 |
HGNCi | HGNC:26812, ANKLE1 |
HPAi | ENSG00000160117, Tissue enhanced (bone marrow, brain, lymphoid tissue) |
neXtProti | NX_Q8NAG6 |
OpenTargetsi | ENSG00000160117 |
PharmGKBi | PA162376509 |
VEuPathDBi | HostDB:ENSG00000160117.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4177, Eukaryota |
GeneTreei | ENSGT00510000049316 |
InParanoidi | Q8NAG6 |
OrthoDBi | 1451150at2759 |
PhylomeDBi | Q8NAG6 |
TreeFami | TF319333 |
Enzyme and pathway databases
PathwayCommonsi | Q8NAG6 |
Miscellaneous databases
BioGRID-ORCSi | 126549, 12 hits in 801 CRISPR screens |
ChiTaRSi | ANKLE1, human |
GenomeRNAii | 126549 |
Pharosi | Q8NAG6, Tbio |
PROi | PR:Q8NAG6 |
RNActi | Q8NAG6, protein |
Gene expression databases
Bgeei | ENSG00000160117, Expressed in bone marrow and 115 other tissues |
ExpressionAtlasi | Q8NAG6, baseline and differential |
Genevisiblei | Q8NAG6, HS |
Family and domain databases
Gene3Di | 1.10.720.40, 1 hit 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR034998, ANKLE1 IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR000305, GIY-YIG_endonuc IPR011015, LEM/LEM-like_dom_sf IPR003887, LEM_dom |
PANTHERi | PTHR46427, PTHR46427, 1 hit |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF03020, LEM, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 3 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF63451, SSF63451, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 2 hits PS50164, GIY_YIG, 1 hit PS50954, LEM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ANKL1_HUMAN | |
Accessioni | Q8NAG6Primary (citable) accession number: Q8NAG6 Secondary accession number(s): A8VU82, Q8N8J8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | October 5, 2010 | |
Last modified: | February 10, 2021 | |
This is version 126 of the entry and version 2 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 chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports