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UniProtKB - Q8NAG6 (ANKL1_HUMAN)

Entry version 126 (10 Feb 2021)
Sequence version 2 (05 Oct 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NAG6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ANKLE1
Synonyms:ANKRD41, LEM3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26812, ANKLE1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NAG6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000160117.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		126549

Open Targets

More...OpenTargetsi		ENSG00000160117

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162376509

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NAG6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ANKLE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153409

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002443701 – 615Ankyrin repeat and LEM domain-containing protein 1Add BLAST615

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NAG6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NAG6

PeptideAtlas

More...PeptideAtlasi		Q8NAG6

PRoteomics IDEntifications database

More...PRIDEi		Q8NAG6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72677 [Q8NAG6-2]
72678 [Q8NAG6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NAG6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NAG6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expression is predominant in adult bone marrow.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal spleen, liver and thymus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160117, Expressed in bone marrow and 115 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NAG6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NAG6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160117, Tissue enhanced (bone marrow, brain, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

1 Publication

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377971

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NAG6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NAG6

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati39 – 71ANK 1Add BLAST33
Repeati75 – 104ANK 2Add BLAST30
Repeati108 – 137ANK 3Add BLAST30
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini355 – 399LEMPROSITE-ProRule annotationAdd BLAST45
Domaini448 – 566GIY-YIGPROSITE-ProRule annotationAdd BLAST119

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi271 – 280Nuclear export signal1 Publication10
Motifi579 – 586Nuclear localization signal1 Publication8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi582 – 585Poly-Arg4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4177, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000049316

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NAG6

Database of Orthologous Groups

More...OrthoDBi		1451150at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NAG6

TreeFam database of animal gene trees

More...TreeFami		TF319333

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.720.40, 1 hit
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR46427, PTHR46427, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12796, Ank_2, 1 hit
PF03020, LEM, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248, ANK, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48403, SSF48403, 1 hit
SSF63451, SSF63451, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
Length:615
Mass (Da):66,890
Last modified:October 5, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R002M0R002_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE1
598Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QX15M0QX15_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE1
589Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A499FJM0A0A499FJM0_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE1
669Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSC6A0A0A0MSC6_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE1
385Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C092A0A494C092_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE1
578Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04840 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti444E → G in BAC03953 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06368131A → T1 PublicationCorresponds to variant dbSNP:rs8100241Ensembl.1
Natural variantiVAR_06368271A → V2 PublicationsCorresponds to variant dbSNP:rs1864116Ensembl.1
Natural variantiVAR_03350794L → Q1 PublicationCorresponds to variant dbSNP:rs8108174Ensembl.1
Natural variantiVAR_061015160P → S. Corresponds to variant dbSNP:rs59119993EnsemblClinVar.1
Natural variantiVAR_033508184L → W1 PublicationCorresponds to variant dbSNP:rs2363956Ensembl.1
Natural variantiVAR_033509311T → P2 PublicationsCorresponds to variant dbSNP:rs891017Ensembl.1
Natural variantiVAR_033510435Q → R2 PublicationsCorresponds to variant dbSNP:rs11086065Ensembl.1
Natural variantiVAR_033511447V → M. Corresponds to variant dbSNP:rs34112069EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12354.3 [Q8NAG6-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000404085; ENSP00000384008; ENSG00000160117 [Q8NAG6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		126549

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:126549

UCSC genome browser

More...UCSCi		uc002nga.3, human [Q8NAG6-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS12354.3 [Q8NAG6-2]
RefSeqiNP_001265372.1, NM_001278443.1
NP_001265374.1, NM_001278445.1 [Q8NAG6-1]
NP_689576.5, NM_152363.5 [Q8NAG6-2]

3D structure databases

SMRiQ8NAG6
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000377971

PTM databases

iPTMnetiQ8NAG6
PhosphoSitePlusiQ8NAG6

Genetic variation databases

BioMutaiANKLE1
DMDMi308153409

Proteomic databases

MassIVEiQ8NAG6
PaxDbiQ8NAG6
PeptideAtlasiQ8NAG6
PRIDEiQ8NAG6
ProteomicsDBi72677 [Q8NAG6-2]
72678 [Q8NAG6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27599, 38 antibodies

Genome annotation databases

EnsembliENST00000404085; ENSP00000384008; ENSG00000160117 [Q8NAG6-2]
GeneIDi126549
KEGGihsa:126549
UCSCiuc002nga.3, human [Q8NAG6-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		126549
DisGeNETi126549

GeneCards: human genes, protein and diseases

More...GeneCardsi		ANKLE1
HGNCiHGNC:26812, ANKLE1
HPAiENSG00000160117, Tissue enhanced (bone marrow, brain, lymphoid tissue)
neXtProtiNX_Q8NAG6
OpenTargetsiENSG00000160117
PharmGKBiPA162376509
VEuPathDBiHostDB:ENSG00000160117.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4177, Eukaryota
GeneTreeiENSGT00510000049316
InParanoidiQ8NAG6
OrthoDBi1451150at2759
PhylomeDBiQ8NAG6
TreeFamiTF319333

Enzyme and pathway databases

PathwayCommonsiQ8NAG6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		126549, 12 hits in 801 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ANKLE1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		126549
PharosiQ8NAG6, Tbio

Protein Ontology

More...PROi		PR:Q8NAG6
RNActiQ8NAG6, protein

Gene expression databases

BgeeiENSG00000160117, Expressed in bone marrow and 115 other tissues
ExpressionAtlasiQ8NAG6, baseline and differential
GenevisibleiQ8NAG6, HS

Family and domain databases

Gene3Di1.10.720.40, 1 hit
1.25.40.20, 1 hit
InterProiView 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
PANTHERiPTHR46427, PTHR46427, 1 hit
PfamiView protein in Pfam
PF12796, Ank_2, 1 hit
PF03020, LEM, 1 hit
SMARTiView protein in SMART
SM00248, ANK, 3 hits
SUPFAMiSSF48403, SSF48403, 1 hit
SSF63451, SSF63451, 1 hit
PROSITEiView protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 2 hits
PS50164, GIY_YIG, 1 hit
PS50954, LEM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiANKL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NAG6
Secondary accession number(s): A8VU82, Q8N8J8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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