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Protein

Ankyrin repeat and LEM domain-containing protein 1

Gene

ANKLE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Endonuclease that probably plays a role in the DNA damage response and DNA repair.2 Publications

GO - Molecular functioni

  • chromatin DNA binding Source: GO_Central
  • endonuclease activity Source: UniProtKB

GO - Biological processi

  • DNA repair Source: UniProtKB-KW
  • meiotic attachment of telomere to nuclear envelope Source: GO_Central
  • nuclear envelope organization Source: GO_Central
  • nucleic acid phosphodiester bond hydrolysis Source: UniProtKB
  • positive regulation of response to DNA damage stimulus Source: UniProtKB
  • protein export from nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160117-MONOMER.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26812. ANKLE1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • integral component of nuclear inner membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi110 – 117LRPLDLAL → ARPADAAA: Slight increase in nuclear localization. 1 Publication8
Mutagenesisi271 – 280LNARLQALTL → ANARAQAATA: Increased nuclear localization. 1 Publication10
Mutagenesisi453Y → A: Loss of endonucleolytic activity. 1 Publication1
Mutagenesisi486 – 488YVG → 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 Publication3
Mutagenesisi488G → A: Loss of endonucleolytic activity. 1 Publication1
Mutagenesisi551E → A: Loss of endonucleolytic activity. 1 Publication1

Organism-specific databases

DisGeNETi126549.
PharmGKBiPA162376509.

Polymorphism and mutation databases

DMDMi308153409.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002443701 – 615Ankyrin repeat and LEM domain-containing protein 1Add BLAST615

Proteomic databases

PaxDbiQ8NAG6.
PeptideAtlasiQ8NAG6.
PRIDEiQ8NAG6.

PTM databases

iPTMnetiQ8NAG6.
PhosphoSitePlusiQ8NAG6.

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

BgeeiENSG00000160117.
ExpressionAtlasiQ8NAG6. baseline and differential.
GenevisibleiQ8NAG6. HS.

Organism-specific databases

HPAiHPA026789.

Interactioni

Subunit structurei

Interacts (via LEM domain) with BANF1; the interaction may favor BANF1 dimerization.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000377971.

Structurei

3D structure databases

ProteinModelPortaliQ8NAG6.
SMRiQ8NAG6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati39 – 71ANK 1Add BLAST33
Repeati75 – 104ANK 2Add BLAST30
Repeati108 – 137ANK 3Add BLAST30
Domaini355 – 399LEMPROSITE-ProRule annotationAdd BLAST45
Domaini448 – 566GIY-YIGPROSITE-ProRule annotationAdd BLAST119

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi271 – 280Nuclear export signal1 Publication10
Motifi579 – 586Nuclear localization signal1 Publication8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi582 – 585Poly-Arg4

Domaini

The LEM domain is required for GIY-YIG domain-mediated DNA cleavage and induction of DNA damage response.1 Publication

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation
Contains 1 GIY-YIG domain.PROSITE-ProRule annotation
Contains 1 LEM domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IEED. Eukaryota.
ENOG41104HP. LUCA.
HOGENOMiHOG000015588.
HOVERGENiHBG079451.
InParanoidiQ8NAG6.
OrthoDBiEOG091G059E.
PhylomeDBiQ8NAG6.
TreeFamiTF319333.

Family and domain databases

Gene3Di1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NAG6-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Note: No experimental confirmation available.
Length:615
Mass (Da):66,890
Last modified:October 5, 2010 - v2
Checksum:i5889866143933668
GO
Isoform 2 (identifier: Q8NAG6-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: MCSEARLARRLRDALREEEPWA → MRCGRRSR
     374-399: Missing.

Show »
Length:575
Mass (Da):62,255
Checksum:iDDBB792FD87FA8EA
GO

Sequence cautioni

The sequence BAC04840 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti444E → G in BAC03953 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06368131A → T.1 PublicationCorresponds to variant rs8100241dbSNPEnsembl.1
Natural variantiVAR_06368271A → V.2 PublicationsCorresponds to variant rs1864116dbSNPEnsembl.1
Natural variantiVAR_03350794L → Q.1 PublicationCorresponds to variant rs8108174dbSNPEnsembl.1
Natural variantiVAR_061015160P → S.Corresponds to variant rs59119993dbSNPEnsembl.1
Natural variantiVAR_033508184L → W.1 PublicationCorresponds to variant rs2363956dbSNPEnsembl.1
Natural variantiVAR_033509311T → P.2 PublicationsCorresponds to variant rs891017dbSNPEnsembl.1
Natural variantiVAR_033510435Q → R.2 PublicationsCorresponds to variant rs11086065dbSNPEnsembl.1
Natural variantiVAR_033511447V → M.Corresponds to variant rs34112069dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0398791 – 22MCSEA…EEPWA → MRCGRRSR in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_039880374 – 399Missing in isoform 2. 1 PublicationAdd BLAST26

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.
RefSeqiNP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGeneiHs.721610.

Genome annotation databases

EnsembliENST00000394458; ENSP00000377971; ENSG00000160117.
GeneIDi126549.
KEGGihsa:126549.
UCSCiuc002nga.3. human. [Q8NAG6-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
RefSeqiNP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGeneiHs.721610.

3D structure databases

ProteinModelPortaliQ8NAG6.
SMRiQ8NAG6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000377971.

PTM databases

iPTMnetiQ8NAG6.
PhosphoSitePlusiQ8NAG6.

Polymorphism and mutation databases

DMDMi308153409.

Proteomic databases

PaxDbiQ8NAG6.
PeptideAtlasiQ8NAG6.
PRIDEiQ8NAG6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394458; ENSP00000377971; ENSG00000160117.
GeneIDi126549.
KEGGihsa:126549.
UCSCiuc002nga.3. human. [Q8NAG6-2]

Organism-specific databases

CTDi126549.
DisGeNETi126549.
GeneCardsiANKLE1.
HGNCiHGNC:26812. ANKLE1.
HPAiHPA026789.
neXtProtiNX_Q8NAG6.
PharmGKBiPA162376509.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEED. Eukaryota.
ENOG41104HP. LUCA.
HOGENOMiHOG000015588.
HOVERGENiHBG079451.
InParanoidiQ8NAG6.
OrthoDBiEOG091G059E.
PhylomeDBiQ8NAG6.
TreeFamiTF319333.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160117-MONOMER.

Miscellaneous databases

GenomeRNAii126549.
PROiQ8NAG6.

Gene expression databases

BgeeiENSG00000160117.
ExpressionAtlasiQ8NAG6. baseline and differential.
GenevisibleiQ8NAG6. HS.

Family and domain databases

Gene3Di1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANKL1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 100 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.