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UniProtKB - Q7Z3B3 (KANL1_HUMAN)

Entry version 149 (07 Apr 2021)
Sequence version 2 (31 May 2011)
Previous versions | rss
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Protein

KAT8 regulatory NSL complex subunit 1

Gene

KANSL1

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

As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.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 functionChromatin regulator

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7Z3B3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214847, HATs acetylate histones

<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:
KAT8 regulatory NSL complex subunit 1
Alternative name(s):
MLL1/MLL complex subunit KANSL1
MSL1 homolog 1
Short name:
hMSL1v1
NSL complex protein NSL1
Non-specific lethal 1 homolog
<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:KANSL1
Synonyms:CENP-36, KIAA1267, MSL1V1, NSL1
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24565, KANSL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612452, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7Z3B3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000120071.12

<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

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Koolen-De Vries syndrome (KDVS)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies.
Related information in OMIM
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_081891306 – 1105Missing in KDVS. 1 PublicationAdd BLAST800
Natural variantiVAR_081892348 – 1105Missing in KDVS. 1 PublicationAdd BLAST758
Natural variantiVAR_081893606 – 1105Missing in KDVS. 1 PublicationAdd BLAST500

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>Mutagenesisi852 – 855RRRR → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication4
Mutagenesisi856 – 859GESS → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication4
Mutagenesisi860 – 863FDIN → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication4
Mutagenesisi864 – 867NIVI → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication4
Mutagenesisi868 – 871PMSV → AAAA: Reduces KAT8 histone acetyltransferase activity. 1 Publication4
Mutagenesisi910E → R: Abolishes interaction with KAT8. 1 Publication1
Mutagenesisi917F → R: No effect on interaction with KAT8. 1 Publication1
Mutagenesisi921H → R: Abolishes interaction with KAT8. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		284058

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		KANSL1

MalaCards human disease database

More...MalaCardsi		KANSL1
MIMi610443, phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		363958, 17q21.31 microdeletion syndrome
363965, Koolen-De Vries syndrome due to a point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671604

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z3B3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KANSL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		334302834

<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_00002345651 – 1105KAT8 regulatory NSL complex subunit 1Add BLAST1105

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei104N6-acetyllysineCombined sources1
Modified residuei249PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki262Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei268PhosphoserineCombined sources1
Cross-linki331Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei991PhosphoserineCombined sources1
Modified residuei994PhosphoserineCombined sources1
Modified residuei1003PhosphothreonineCombined sources1
Modified residuei1045PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7Z3B3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z3B3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7Z3B3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7Z3B3

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

More...PaxDbi		Q7Z3B3

PeptideAtlas

More...PeptideAtlasi		Q7Z3B3

PRoteomics IDEntifications database

More...PRIDEi		Q7Z3B3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3665
47521
69022 [Q7Z3B3-1]
69023 [Q7Z3B3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7Z3B3

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

More...PhosphoSitePlusi		Q7Z3B3

<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

Expressed in the brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000120071, Expressed in corpus callosum and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7Z3B3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7Z3B3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000120071, Low tissue specificity

<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

Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.

Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.

Interacts with KAT8; the interaction is direct.

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129744, 54 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-809, NSL histone acetyltransferase complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q7Z3B3

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q7Z3B3

Protein interaction database and analysis system

More...IntActi		Q7Z3B3, 46 interactors

Molecular INTeraction database

More...MINTi		Q7Z3B3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262419

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7Z3B3, 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

Secondary structure

11105
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q7Z3B3

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni850 – 882Required for activation of KAT8 histone acetyltransferase activityAdd BLAST33
Regioni883 – 1105Sufficient for interaction with KAT8Add BLAST223

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili283 – 314Sequence analysisAdd BLAST32

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QYK7, Eukaryota

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z3B3

Database of Orthologous Groups

More...OrthoDBi		191128at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7Z3B3

TreeFam database of animal gene trees

More...TreeFami		TF336511

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026180, NSL1
IPR029332, PEHE_dom

The PANTHER Classification System

More...PANTHERi		PTHR22443, PTHR22443, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15275, PEHE, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01300, PEHE, 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 (3+)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 3 <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 3 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z3B3-1) [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
MAAMAPALTD AAAEAHHIRF KLAPPSSTLS PGSAENNGNA NILIAANGTK 
        60         70         80         90        100
RKAIAAEDPS LDFRNNPTKE DLGKLQPLVA SYLCSDVTSV PSKESLKLQG 
       110        120        130        140        150
VFSKQTVLKS HPLLSQSYEL RAELLGRQPV LEFSLENLRT MNTSGQTALP 
       160        170        180        190        200
QAPVNGLAKK LTKSSTHSDH DNSTSLNGGK RALTSSALHG GEMGGSESGD 
       210        220        230        240        250
LKGGMTNCTL PHRSLDVEHT TLYSNNSTAN KSSVNSMEQP ALQGSSRLSP 
       260        270        280        290        300
GTDSSSNLGG VKLEGKKSPL SSILFSALDS DTRITALLRR QADIESRARR 
       310        320        330        340        350
LQKRLQVVQA KQVERHIQHQ LGGFLEKTLS KLPNLESLRP RSQLMLTRKA 
       360        370        380        390        400
EAALRKAASE TTTSEGLSNF LKSNSISEEL ERFTASGIAN LRCSEQAFDS 
       410        420        430        440        450
DVTDSSSGGE SDIEEEELTR ADPEQRHVPL RRRSEWKWAA DRAAIVSRWN 
       460        470        480        490        500
WLQAHVSDLE YRIRQQTDIY KQIRANKGLI VLGEVPPPEH TTDLFLPLSS 
       510        520        530        540        550
EVKTDHGTDK LIESVSQPLE NHGARIIGHI SESLSTKSCG ALRPVNGVIN 
       560        570        580        590        600
TLQPVLADHI PGDSSDAEEQ LHKKQRLNLV SSSSDGTCVA ARTRPVLSCK 
       610        620        630        640        650
KRRLVRPNSI VPLSKKVHRN STIRPGCDVN PSCALCGSGS INTMPPEIHY 
       660        670        680        690        700
EAPLLERLSQ LDSCVHPVLA FPDDVPTSLH FQSMLKSQWQ NKPFDKIKPP 
       710        720        730        740        750
KKLSLKHRAP MPGSLPDSAR KDRHKLVSSF LTTAKLSHHQ TRPDRTHRQH 
       760        770        780        790        800
LDDVGAVPMV ERVTAPKAER LLNPPPPVHD PNHSKMRLRD HSSERSEVLK 
       810        820        830        840        850
HHTDMSSSSY LAATHHPPHS PLVRQLSTSS DSPAPASSSS QVTASTSQQP 
       860        870        880        890        900
VRRRRGESSF DINNIVIPMS VAATTRVEKL QYKEILTPSW REVDLQSLKG 
       910        920        930        940        950
SPDEENEEIE DLSDAAFAAL HAKCEEMERA RWLWTTSVPP QRRGSRSYRS 
       960        970        980        990       1000
SDGRTTPQLG SANPSTPQPA SPDVSSSHSL SEYSHGQSPR SPISPELHSA 
      1010       1020       1030       1040       1050
PLTPVARDTP RHLASEDTRC STPELGLDEQ SVQPWERRTF PLAHSPQAEC 
      1060       1070       1080       1090       1100
EDQLDAQERA ARCTRRTSGS KTGRETEAAP TSPPIVPLKS RHLVAAATAQ 

RPTHR
Length:1,105
Mass (Da):121,025
Last modified:May 31, 2011 - 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:iB69D11BC522B9CAD
GO
Isoform 2 (identifier: Q7Z3B3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-669: Missing.
     670-673: AFPD → MFLA

Note: May be due to an intron retention.Curated
Show »
Length:436
Mass (Da):48,445
Checksum:iEFA2A4A2BE70F67E
GO
Isoform 3 (identifier: Q7Z3B3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-669: Missing.
     670-673: AFPD → MFLA
     735-798: KLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHDPNHSKMRLRDHSSERSEV → M

Show »
Length:373
Mass (Da):41,197
Checksum:i5BDCC7917FBEA0E9
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 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRB5A0A1W2PRB5_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,041Annotation 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>
I3L233I3L233_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
678Annotation 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>
A0A1W2PPV8A0A1W2PPV8_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
897Annotation 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>
A0A3B3IT55A0A3B3IT55_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,061Annotation 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>
A0A1W2PRR3A0A1W2PRR3_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
475Annotation 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>
A0A0G2JNB1A0A0G2JNB1_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,104Annotation 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>
A0A0G2JQF5A0A0G2JQF5_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,041Annotation 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>
A0A0J9YVS1A0A0J9YVS1_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,041Annotation 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>
A0A0G2JNT7A0A0G2JNT7_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,105Annotation 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>
A0A0G2JQF4A0A0G2JQF4_HUMAN
KAT8 regulatory NSL complex subunit...
KANSL1
1,105Annotation 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>
There are more potential isoformsShow all

<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 CAH10565 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 conflicti525R → P in KF495991 (PubMed:16625196).Curated1
Sequence conflicti530I → F in CAB70694 (PubMed:17974005).Curated1
Sequence conflicti683S → G in CAH10565 (PubMed:17974005).Curated1
Sequence conflicti849Missing in BAF83948 (PubMed:14702039).Curated1
Sequence conflicti849Missing in KF495991 (PubMed:16625196).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049515104K → T. Corresponds to variant dbSNP:rs17585974EnsemblClinVar.1
Natural variantiVAR_049516221T → I. Corresponds to variant dbSNP:rs17662853Ensembl.1
Natural variantiVAR_049517225N → D. Corresponds to variant dbSNP:rs35643216EnsemblClinVar.1
Natural variantiVAR_081891306 – 1105Missing in KDVS. 1 PublicationAdd BLAST800
Natural variantiVAR_081892348 – 1105Missing in KDVS. 1 PublicationAdd BLAST758
Natural variantiVAR_081893606 – 1105Missing in KDVS. 1 PublicationAdd BLAST500
Natural variantiVAR_049518718S → P1 PublicationCorresponds to variant dbSNP:rs34043286EnsemblClinVar.1
Natural variantiVAR_0262871010P → L4 PublicationsCorresponds to variant dbSNP:rs7220988EnsemblClinVar.1
Natural variantiVAR_0495191085I → T1 PublicationCorresponds to variant dbSNP:rs34579536EnsemblClinVar.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_0411321 – 669Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST669
Alternative sequenceiVSP_041133670 – 673AFPD → MFLA in isoform 2 and isoform 3. 1 Publication4
Alternative sequenceiVSP_058944735 – 798KLSHH…ERSEV → M in isoform 3. Add BLAST64

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
AB033093 mRNA Translation: BAA86581.1
AK094946 mRNA Translation: BAG52961.1
AK291259 mRNA Translation: BAF83948.1
AL117476 mRNA Translation: CAB55949.1
AL137317 mRNA Translation: CAB70694.1
BX538006 mRNA Translation: CAD97958.1
BX648760 mRNA Translation: CAH10565.1 Different initiation.
AC217773 Genomic DNA No translation available.
CR936218 Genomic DNA No translation available.
KF495991 Genomic DNA No translation available.
BC035892 mRNA Translation: AAH35892.1
BC098376 mRNA Translation: AAH98376.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11503.2 [Q7Z3B3-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T17259
T46385

NCBI Reference Sequences

More...RefSeqi		NP_001180394.1, NM_001193465.1
NP_001180395.1, NM_001193466.1
NP_056258.1, NM_015443.3
XP_006721886.1, XM_006721823.1
XP_006721887.1, XM_006721824.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262419; ENSP00000262419; ENSG00000120071
ENST00000432791; ENSP00000387393; ENSG00000120071
ENST00000572904; ENSP00000461484; ENSG00000120071
ENST00000574590; ENSP00000461812; ENSG00000120071

Database of genes from NCBI RefSeq genomes

More...GeneIDi		284058

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:284058

UCSC genome browser

More...UCSCi		uc002ikc.4, human [Q7Z3B3-1]
uc060gjw.1, human

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
AB033093 mRNA Translation: BAA86581.1
AK094946 mRNA Translation: BAG52961.1
AK291259 mRNA Translation: BAF83948.1
AL117476 mRNA Translation: CAB55949.1
AL137317 mRNA Translation: CAB70694.1
BX538006 mRNA Translation: CAD97958.1
BX648760 mRNA Translation: CAH10565.1 Different initiation.
AC217773 Genomic DNA No translation available.
CR936218 Genomic DNA No translation available.
KF495991 Genomic DNA No translation available.
BC035892 mRNA Translation: AAH35892.1
BC098376 mRNA Translation: AAH98376.1
CCDSiCCDS11503.2 [Q7Z3B3-1]
PIRiT17259
T46385
RefSeqiNP_001180394.1, NM_001193465.1
NP_001180395.1, NM_001193466.1
NP_056258.1, NM_015443.3
XP_006721886.1, XM_006721823.1
XP_006721887.1, XM_006721824.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CY1X-ray1.50C/D585-598[»]
4CY2X-ray2.00D585-598[»]
SMRiQ7Z3B3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi129744, 54 interactors
ComplexPortaliCPX-809, NSL histone acetyltransferase complex
CORUMiQ7Z3B3
ELMiQ7Z3B3
IntActiQ7Z3B3, 46 interactors
MINTiQ7Z3B3
STRINGi9606.ENSP00000262419

PTM databases

iPTMnetiQ7Z3B3
PhosphoSitePlusiQ7Z3B3

Genetic variation databases

BioMutaiKANSL1
DMDMi334302834

Proteomic databases

EPDiQ7Z3B3
jPOSTiQ7Z3B3
MassIVEiQ7Z3B3
MaxQBiQ7Z3B3
PaxDbiQ7Z3B3
PeptideAtlasiQ7Z3B3
PRIDEiQ7Z3B3
ProteomicsDBi3665
47521
69022 [Q7Z3B3-1]
69023 [Q7Z3B3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2016, 75 antibodies

The DNASU plasmid repository

More...DNASUi		284058

Genome annotation databases

EnsembliENST00000262419; ENSP00000262419; ENSG00000120071
ENST00000432791; ENSP00000387393; ENSG00000120071
ENST00000572904; ENSP00000461484; ENSG00000120071
ENST00000574590; ENSP00000461812; ENSG00000120071
GeneIDi284058
KEGGihsa:284058
UCSCiuc002ikc.4, human [Q7Z3B3-1]
uc060gjw.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		284058
DisGeNETi284058

GeneCards: human genes, protein and diseases

More...GeneCardsi		KANSL1
GeneReviewsiKANSL1
HGNCiHGNC:24565, KANSL1
HPAiENSG00000120071, Low tissue specificity
MalaCardsiKANSL1
MIMi610443, phenotype
612452, gene
neXtProtiNX_Q7Z3B3
Orphaneti363958, 17q21.31 microdeletion syndrome
363965, Koolen-De Vries syndrome due to a point mutation
PharmGKBiPA142671604
VEuPathDBiHostDB:ENSG00000120071.12

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QYK7, Eukaryota
InParanoidiQ7Z3B3
OrthoDBi191128at2759
PhylomeDBiQ7Z3B3
TreeFamiTF336511

Enzyme and pathway databases

PathwayCommonsiQ7Z3B3
ReactomeiR-HSA-3214847, HATs acetylate histones

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		284058, 445 hits in 1006 CRISPR screens

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

More...ChiTaRSi		KANSL1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KIAA1267

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

More...GenomeRNAii		284058
PharosiQ7Z3B3, Tbio

Protein Ontology

More...PROi		PR:Q7Z3B3
RNActiQ7Z3B3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000120071, Expressed in corpus callosum and 225 other tissues
ExpressionAtlasiQ7Z3B3, baseline and differential
GenevisibleiQ7Z3B3, HS

Family and domain databases

InterProiView protein in InterPro
IPR026180, NSL1
IPR029332, PEHE_dom
PANTHERiPTHR22443, PTHR22443, 1 hit
PfamiView protein in Pfam
PF15275, PEHE, 1 hit
SMARTiView protein in SMART
SM01300, PEHE, 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 nameiKANL1_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: Q7Z3B3
Secondary accession number(s): A8K5E4
, B3KT49, I3L4J3, Q6AW85, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
<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: May 16, 2006
Last sequence update: May 31, 2011
Last modified: April 7, 2021
This is version 149 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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