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Entry version 135 (08 May 2019)
Sequence version 2 (31 May 2011)
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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

  • histone acetyltransferase binding Source: GO_Central

GO - Biological processi

<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

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

<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

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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

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

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

Polymorphism and mutation 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.<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_processing_section">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

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EPDi
Q7Z3B3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z3B3

MaxQB - The MaxQuant DataBase

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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 human proteome resource

More...
ProteomicsDBi
69022
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 212 organ(s), highest expression level in corpus callosum

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
HPA006874
HPA007208

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129744, 50 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, 37 interactors

Molecular INTeraction database

More...
MINTi
Q7Z3B3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262419

<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

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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

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

More...
SMRi
Q7Z3B3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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
ENOG410IKZN Eukaryota
ENOG410ZYQQ LUCA

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z3B3

KEGG Orthology (KO)

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KOi
K18400

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 '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
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. No experimental confirmation available.
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
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>
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>
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>
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>
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>
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>
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>
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>
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>
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. Translation N-terminally extended.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
<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_049515104K → T. Corresponds to variant dbSNP:rs17585974EnsemblClinVar.1
Natural variantiVAR_049516221T → I. Corresponds to variant dbSNP:rs17662853EnsemblClinVar.1
Natural variantiVAR_049517225N → D. Corresponds to variant dbSNP:rs35643216EnsemblClinVar.1
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CY1X-ray1.50C/D585-598[»]
4CY2X-ray2.00D585-598[»]
SMRiQ7Z3B3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129744, 50 interactors
ComplexPortaliCPX-809 NSL histone acetyltransferase complex
CORUMiQ7Z3B3
ELMiQ7Z3B3
IntActiQ7Z3B3, 37 interactors
MINTiQ7Z3B3
STRINGi9606.ENSP00000262419

PTM databases

iPTMnetiQ7Z3B3
PhosphoSitePlusiQ7Z3B3

Polymorphism and mutation databases

BioMutaiKANSL1
DMDMi334302834

Proteomic databases

EPDiQ7Z3B3
jPOSTiQ7Z3B3
MaxQBiQ7Z3B3
PaxDbiQ7Z3B3
PeptideAtlasiQ7Z3B3
PRIDEiQ7Z3B3
ProteomicsDBi69022
69023 [Q7Z3B3-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
284058
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
284058
DisGeNETi284058

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KANSL1
GeneReviewsiKANSL1
HGNCiHGNC:24565 KANSL1
HPAiHPA006874
HPA007208
MalaCardsiKANSL1
MIMi612452 gene
neXtProtiNX_Q7Z3B3
Orphaneti363958 17q21.31 microdeletion syndrome
363965 Koolen-De Vries syndrome due to a point mutation
PharmGKBiPA142671604

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKZN Eukaryota
ENOG410ZYQQ LUCA
InParanoidiQ7Z3B3
KOiK18400
OrthoDBi191128at2759
PhylomeDBiQ7Z3B3
TreeFamiTF336511

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q7Z3B3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120071 Expressed in 212 organ(s), highest expression level in corpus callosum
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...

<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_and_isoforms">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: May 8, 2019
This is version 135 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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