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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

  • histone H4-K16 acetylation Source: UniProtKB
  • histone H4-K5 acetylation Source: UniProtKB
  • histone H4-K8 acetylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Enzyme and pathway databases

BioCyciZFISH:G66-33009-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Names & Taxonomyi

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
Gene namesi
Name:KANSL1
Synonyms:CENP-36, KIAA1267, MSL1V1, NSL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24565. KANSL1.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • histone acetyltransferase complex Source: UniProtKB
  • MLL1 complex Source: UniProtKB
  • NSL complex Source: GO_Central
  • nucleoplasm Source: Reactome
  • nucleus Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi284058.
MalaCardsiKANSL1.
Orphaneti363958. 17q21.31 microdeletion syndrome.
363965. Koolen-De Vries syndrome due to a point mutation.
PharmGKBiPA142671604.

Polymorphism and mutation databases

BioMutaiKANSL1.
DMDMi334302834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345651 – 1105KAT8 regulatory NSL complex subunit 1Add BLAST1105

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei104N6-acetyllysineCombined sources1
Modified residuei249PhosphoserineCombined sources1
Modified residuei268PhosphoserineCombined sources1
Modified residuei991PhosphoserineCombined sources1
Modified residuei994PhosphoserineCombined sources1
Modified residuei1003PhosphothreonineCombined sources1
Modified residuei1045PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ7Z3B3.
MaxQBiQ7Z3B3.
PaxDbiQ7Z3B3.
PeptideAtlasiQ7Z3B3.
PRIDEiQ7Z3B3.

PTM databases

iPTMnetiQ7Z3B3.
PhosphoSitePlusiQ7Z3B3.

Expressioni

Tissue specificityi

Expressed in the brain.1 Publication

Gene expression databases

BgeeiENSG00000120071.
CleanExiHS_KIAA1267.
ExpressionAtlasiQ7Z3B3. baseline and differential.
GenevisibleiQ7Z3B3. HS.

Organism-specific databases

HPAiHPA006874.
HPA007208.

Interactioni

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

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC85BQ158342EBI-740244,EBI-739674
WDR5P6196410EBI-740244,EBI-540834

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129744. 48 interactors.
IntActiQ7Z3B3. 24 interactors.
MINTiMINT-1183636.
STRINGi9606.ENSP00000262419.

Structurei

Secondary structure

11105
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi591 – 593Combined sources3

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[»]
ProteinModelPortaliQ7Z3B3.
SMRiQ7Z3B3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni850 – 882Required for activation of KAT8 histone acetyltransferase activityAdd BLAST33
Regioni883 – 1105Sufficient for interaction with KAT8Add BLAST223

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili283 – 314Sequence analysisAdd BLAST32

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IKZN. Eukaryota.
ENOG410ZYQQ. LUCA.
HOVERGENiHBG080054.
InParanoidiQ7Z3B3.
KOiK18400.
OrthoDBiEOG091G08OO.
PhylomeDBiQ7Z3B3.
TreeFamiTF336511.

Family and domain databases

InterProiIPR026180. NSL1.
IPR029332. PEHE_dom.
[Graphical view]
PANTHERiPTHR22443. PTHR22443. 1 hit.
PfamiPF15275. PEHE. 1 hit.
[Graphical view]
SMARTiSM01300. PEHE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: 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
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

Sequence cautioni

The sequence CAH10565 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti525R → P in BAA86581 (PubMed:10574462).Curated1
Sequence conflicti525R → P in BAF83948 (PubMed:14702039).Curated1
Sequence conflicti525R → P in CAD97958 (PubMed:17974005).Curated1
Sequence conflicti525R → P in AAH98376 (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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049515104K → T.Corresponds to variant rs17585974dbSNPEnsembl.1
Natural variantiVAR_049516221T → I.Corresponds to variant rs17662853dbSNPEnsembl.1
Natural variantiVAR_049517225N → D.Corresponds to variant rs35643216dbSNPEnsembl.1
Natural variantiVAR_049518718S → P.Corresponds to variant rs34043286dbSNPEnsembl.1
Natural variantiVAR_0262871010P → L.4 PublicationsCorresponds to variant rs7220988dbSNPEnsembl.1
Natural variantiVAR_0495191085I → T.Corresponds to variant rs34579536dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0411321 – 669Missing in isoform 2. 1 PublicationAdd BLAST669
Alternative sequenceiVSP_041133670 – 673AFPD → MFLA in isoform 2. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033093 mRNA. Translation: BAA86581.1.
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.
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.
UniGeneiHs.648744.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB033093 mRNA. Translation: BAA86581.1.
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.
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.
UniGeneiHs.648744.

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[»]
ProteinModelPortaliQ7Z3B3.
SMRiQ7Z3B3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129744. 48 interactors.
IntActiQ7Z3B3. 24 interactors.
MINTiMINT-1183636.
STRINGi9606.ENSP00000262419.

PTM databases

iPTMnetiQ7Z3B3.
PhosphoSitePlusiQ7Z3B3.

Polymorphism and mutation databases

BioMutaiKANSL1.
DMDMi334302834.

Proteomic databases

EPDiQ7Z3B3.
MaxQBiQ7Z3B3.
PaxDbiQ7Z3B3.
PeptideAtlasiQ7Z3B3.
PRIDEiQ7Z3B3.

Protocols and materials databases

DNASUi284058.
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

CTDi284058.
DisGeNETi284058.
GeneCardsiKANSL1.
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.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKZN. Eukaryota.
ENOG410ZYQQ. LUCA.
HOVERGENiHBG080054.
InParanoidiQ7Z3B3.
KOiK18400.
OrthoDBiEOG091G08OO.
PhylomeDBiQ7Z3B3.
TreeFamiTF336511.

Enzyme and pathway databases

BioCyciZFISH:G66-33009-MONOMER.
ReactomeiR-HSA-3214847. HATs acetylate histones.

Miscellaneous databases

GeneWikiiKIAA1267.
GenomeRNAii284058.
PROiQ7Z3B3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120071.
CleanExiHS_KIAA1267.
ExpressionAtlasiQ7Z3B3. baseline and differential.
GenevisibleiQ7Z3B3. HS.

Family and domain databases

InterProiIPR026180. NSL1.
IPR029332. PEHE_dom.
[Graphical view]
PANTHERiPTHR22443. PTHR22443. 1 hit.
PfamiPF15275. PEHE. 1 hit.
[Graphical view]
SMARTiSM01300. PEHE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKANL1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3B3
Secondary accession number(s): A8K5E4
, Q6AW85, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 31, 2011
Last modified: November 30, 2016
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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

Similar proteinsi

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