UniProtKB - Q7Z3B3 (KANL1_HUMAN)

BLAST

>sp|Q7Z3B3|KANL1_HUMAN KAT8 regulatory NSL complex subunit 1 OS=Homo sapiens OX=9606 GN=KANSL1 PE=1 SV=2
MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPS
LDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYEL
RAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGK
RALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQP
ALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASE
TTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLI
VLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGARIIGHISESLSTKSCG
ALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQ
LDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSAR
KDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHD
PNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLG
SANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRC
STPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAP
TSPPIVPLKSRHLVAAATAQRPTHR

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History
Entry version 131 (07 Nov 2018)
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: -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

histone acetyltransferase binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

histone H4-K16 acetylation
Source: UniProtKB
Inferred from direct assayⁱ
- 20018852
histone H4-K5 acetylation
Source: UniProtKB
Inferred from direct assayⁱ
- 20018852
histone H4-K8 acetylation
Source: UniProtKB
Inferred from direct assayⁱ
- 20018852

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Chromatin regulator

Molecular function

Chromatin regulator

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214847 HATs acetylate histones

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 17

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000120071.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24565 KANSL1
MIMⁱ	612452 gene
neXtProtⁱ	NX_Q7Z3B3

Keywords - Cellular componentⁱ

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	852 – 855	RRRR → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication	4
Mutagenesisⁱ	856 – 859	GESS → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication	4
Mutagenesisⁱ	860 – 863	FDIN → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication	4
Mutagenesisⁱ	864 – 867	NIVI → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication	4
Mutagenesisⁱ	868 – 871	PMSV → AAAA: Reduces KAT8 histone acetyltransferase activity. 1 Publication	4
Mutagenesisⁱ	910	E → R: Abolishes interaction with KAT8. 1 Publication	1
Mutagenesisⁱ	917	F → R: No effect on interaction with KAT8. 1 Publication	1
Mutagenesisⁱ	921	H → R: Abolishes interaction with KAT8. 1 Publication	1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	284058
GeneReviewsⁱ	KANSL1
MalaCards human disease database More...MalaCardsⁱ	KANSL1
Orphanetⁱ	363958 17q21.31 microdeletion syndrome 363965 Koolen-De Vries syndrome due to a point mutation
PharmGKBⁱ	PA142671604

Polymorphism and mutation databases

BioMutaⁱ	KANSL1
DMDMⁱ	334302834

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000234565	1 – 1105	KAT8 regulatory NSL complex subunit 1Add BLAST		1105

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	104	N6-acetyllysineCombined sources	1
Modified residueⁱ	249	PhosphoserineCombined sources	1
Cross-linkⁱ	262	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	268	PhosphoserineCombined sources	1
Cross-linkⁱ	331	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	991	PhosphoserineCombined sources	1
Modified residueⁱ	994	PhosphoserineCombined sources	1
Modified residueⁱ	1003	PhosphothreonineCombined sources	1
Modified residueⁱ	1045	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q7Z3B3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q7Z3B3
PaxDbⁱ	Q7Z3B3
PeptideAtlas More...PeptideAtlasⁱ	Q7Z3B3
PRIDEⁱ	Q7Z3B3
ProteomicsDBⁱ	69022 69023 [Q7Z3B3-2]

PTM databases

iPTMnetⁱ	Q7Z3B3
PhosphoSitePlusⁱ	Q7Z3B3

Expressionⁱ

Tissue specificityⁱ

Expressed in the brain.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000120071 Expressed in 212 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_KIAA1267
ExpressionAtlasⁱ	Q7Z3B3 baseline and differential
Genevisibleⁱ	Q7Z3B3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA006874 HPA007208

HPAⁱ

HPA006874
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

With	Entry	#Exp.	IntAct
CALCOCO2	Q13137	4	EBI-740244,EBI-739580
CCDC136	Q96JN2-2	3	EBI-740244,EBI-10171416
CCDC85B	Q15834	2	EBI-740244,EBI-739674
CDR2	Q01850	3	EBI-740244,EBI-1181367
CEP70	Q8NHQ1	4	EBI-740244,EBI-739624
DTNBP1	Q96EV8	3	EBI-740244,EBI-465804
FSD2	A1L4K1	3	EBI-740244,EBI-5661036
GOLGA2	Q08379	4	EBI-740244,EBI-618309
HOOK2	Q96ED9	4	EBI-740244,EBI-743290
KIFC3	Q9BVG8	3	EBI-740244,EBI-2125614
KRT15	P19012	4	EBI-740244,EBI-739566
MAGEA12	P43365	3	EBI-740244,EBI-749530
NECAB2	Q7Z6G3-2	3	EBI-740244,EBI-10172876
NUP62	P37198	4	EBI-740244,EBI-347978
NUTM1	Q86Y26	3	EBI-740244,EBI-10178410
PNMA1	Q8ND90	3	EBI-740244,EBI-302345
SPAG5	Q96R06	3	EBI-740244,EBI-413317
TFIP11	Q9UBB9	4	EBI-740244,EBI-1105213
TRAF4	Q9BUZ4	3	EBI-740244,EBI-3650647
TRIM27	P14373	3	EBI-740244,EBI-719493
WDR5	P61964	10	EBI-740244,EBI-540834

GO - Molecular functionⁱ

histone acetyltransferase binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	129744, 49 interactors
ComplexPortalⁱ	CPX-809 NSL histone acetyltransferase complex
CORUMⁱ	Q7Z3B3
ELMⁱ	Q7Z3B3
IntActⁱ	Q7Z3B3, 37 interactors
Molecular INTeraction database More...MINTⁱ	Q7Z3B3
STRINGⁱ	9606.ENSP00000262419

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Helixⁱ	591 – 593	Combined sources		3

Show more details

3D structure databases

ProteinModelPortalⁱ	Q7Z3B3
SMRⁱ	Q7Z3B3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	850 – 882	Required for activation of KAT8 histone acetyltransferase activityAdd BLAST		33
Regionⁱ	883 – 1105	Sufficient for interaction with KAT8Add BLAST		223

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	283 – 314	Sequence analysisAdd BLAST		32

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	ENOG410IKZN Eukaryota ENOG410ZYQQ LUCA
HOVERGENⁱ	HBG080054
InParanoidⁱ	Q7Z3B3
KEGG Orthology (KO) More...KOⁱ	K18400
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G08OO
PhylomeDBⁱ	Q7Z3B3
TreeFamⁱ	TF336511

Family and domain databases

InterProⁱ	View protein in InterPro IPR026180 NSL1 IPR029332 PEHE_dom
PANTHERⁱ	PTHR22443 PTHR22443, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF15275 PEHE, 1 hit
SMARTⁱ	View protein in SMART SM01300 PEHE, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 15 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q7Z3B3-1) [UniParc]FASTA Add 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.

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        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

Isoform 2 (identifier: Q7Z3B3-2) [UniParc]FASTA Add to basket

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

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        10         20         30         40         50
MFLADVPTSL HFQSMLKSQW QNKPFDKIKP PKKLSLKHRA PMPGSLPDSA 
        60         70         80         90        100
RKDRHKLVSS FLTTAKLSHH QTRPDRTHRQ HLDDVGAVPM VERVTAPKAE 
       110        120        130        140        150
RLLNPPPPVH DPNHSKMRLR DHSSERSEVL KHHTDMSSSS YLAATHHPPH 
       160        170        180        190        200
SPLVRQLSTS SDSPAPASSS SQVTASTSQQ PVRRRRGESS FDINNIVIPM 
       210        220        230        240        250
SVAATTRVEK LQYKEILTPS WREVDLQSLK GSPDEENEEI EDLSDAAFAA 
       260        270        280        290        300
LHAKCEEMER ARWLWTTSVP PQRRGSRSYR SSDGRTTPQL GSANPSTPQP 
       310        320        330        340        350
ASPDVSSSHS LSEYSHGQSP RSPISPELHS APLTPVARDT PRHLASEDTR 
       360        370        380        390        400
CSTPELGLDE QSVQPWERRT FPLAHSPQAE CEDQLDAQER AARCTRRTSG 
       410        420        430 
SKTGRETEAA PTSPPIVPLK SRHLVAAATA QRPTHR

Note: May be due to an intron retention. No experimental confirmation available.

Show »

Length:436

Mass (Da):48,445

Checksum:ⁱEFA2A4A2BE70F67E

Isoform 3 (identifier: Q7Z3B3-4) [UniParc]FASTA Add 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

« Hide

        10         20         30         40         50
MFLADVPTSL HFQSMLKSQW QNKPFDKIKP PKKLSLKHRA PMPGSLPDSA 
        60         70         80         90        100
RKDRHKLVSS FLTTAMLKHH TDMSSSSYLA ATHHPPHSPL VRQLSTSSDS 
       110        120        130        140        150
PAPASSSSQV TASTSQQPVR RRRGESSFDI NNIVIPMSVA ATTRVEKLQY 
       160        170        180        190        200
KEILTPSWRE VDLQSLKGSP DEENEEIEDL SDAAFAALHA KCEEMERARW 
       210        220        230        240        250
LWTTSVPPQR RGSRSYRSSD GRTTPQLGSA NPSTPQPASP DVSSSHSLSE 
       260        270        280        290        300
YSHGQSPRSP ISPELHSAPL TPVARDTPRH LASEDTRCST PELGLDEQSV 
       310        320        330        340        350
QPWERRTFPL AHSPQAECED QLDAQERAAR CTRRTSGSKT GRETEAAPTS 
       360        370 
PPIVPLKSRH LVAAATAQRP THR

Show »

Length:373

Mass (Da):41,197

Checksum:ⁱ5BDCC7917FBEA0E9

Computationally mapped potential isoform sequencesⁱ

There are 15 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name	Protein names	Gene names	Length	Annotation

	I3L233	I3L233_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	678	Annotation score:
	A0A1W2PRB5	A0A1W2PRB5_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,041	Annotation score:
	A0A0G2JNB1	A0A0G2JNB1_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,104	Annotation score:
	A0A1W2PPV8	A0A1W2PPV8_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	897	Annotation score:
	A0A0G2JNT7	A0A0G2JNT7_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,105	Annotation score:
	A0A0G2JQF5	A0A0G2JQF5_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,041	Annotation score:
	A0A0J9YVS1	A0A0J9YVS1_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,041	Annotation score:
	A0A0G2JQF4	A0A0G2JQF4_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	1,105	Annotation score:
	A0A1W2PRR3	A0A1W2PRR3_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	475	Annotation score:
	I3L243	I3L243_HUMAN	KAT8 regulatory NSL complex subunit... KAT8 regulatory NSL complex subunit 1	KANSL1	139	Annotation score:
There are more potential isoformsShow all

Sequence cautionⁱ

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

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	525	R → P in KF495991 (PubMed:16625196).Curated	1
Sequence conflictⁱ	530	I → F in CAB70694 (PubMed:17974005).Curated	1
Sequence conflictⁱ	683	S → G in CAH10565 (PubMed:17974005).Curated	1
Sequence conflictⁱ	849	Missing in BAF83948 (PubMed:14702039).Curated	1
Sequence conflictⁱ	849	Missing in KF495991 (PubMed:16625196).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_049515	104	K → T. Corresponds to variant dbSNP:rs17585974EnsemblClinVar.	1
Natural variantⁱVAR_049516	221	T → I. Corresponds to variant dbSNP:rs17662853EnsemblClinVar.	1
Natural variantⁱVAR_049517	225	N → D. Corresponds to variant dbSNP:rs35643216EnsemblClinVar.	1
Natural variantⁱVAR_049518	718	S → P1 PublicationCorresponds to variant dbSNP:rs34043286EnsemblClinVar.	1
Natural variantⁱVAR_026287	1010	P → L4 PublicationsCorresponds to variant dbSNP:rs7220988EnsemblClinVar.	1
Natural variantⁱVAR_049519	1085	I → T1 PublicationCorresponds to variant dbSNP:rs34579536EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_041132	1 – 669	Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST	669
Alternative sequenceⁱVSP_041133	670 – 673	AFPD → MFLA in isoform 2 and isoform 3. 1 Publication	4
Alternative sequenceⁱVSP_058944	735 – 798	KLSHH…ERSEV → M in isoform 3. Add BLAST	64

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11503.2 [Q7Z3B3-1]
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
UniGeneⁱ	Hs.648744

Genome annotation databases

Ensemblⁱ	ENST00000262419; ENSP00000262419; ENSG00000120071 ENST00000432791; ENSP00000387393; ENSG00000120071 ENST00000572904; ENSP00000461484; ENSG00000120071 ENST00000574590; ENSP00000461812; ENSG00000120071
GeneIDⁱ	284058
KEGGⁱ	hsa:284058
UCSC genome browser More...UCSCⁱ	uc002ikc.4 human [Q7Z3B3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q7Z3B3	KIAA1267, isoform CRA_a		HUMAN		1105	UniRef90_Q7Z3B3
KAT8 regulatory NSL complex subunit 1 isoform 1		CALJA		1105
KIAA1267		PANTR		1105
KAT8 regulatory NSL complex subunit 1		MACMU		1105
KAT8 regulatory NSL complex subunit 1		MACFA		1105
+133

Protein	Similar proteins		Species	Score	Length	Source
Q7Z3B3	KAT8 regulatory NSL complex subunit 1		MOUSE		1036	UniRef50_Q7Z3B3
KAT8 regulatory NSL complex subunit 1		HUMAN		1105
Uncharacterized protein		CHLSB		1105
Uncharacterized protein		PANPA		1105
Uncharacterized protein		AOTNA		1105
+398
Q7Z3B3-2	Isoform 3 of KAT8 regulatory NSL complex subunit 1		HUMAN		373	UniRef50_Q7Z3B3-2
Uncharacterized protein (Fragment)		Micrurus lemniscatus lemniscatus		364
UPI0005298C99		COLST		412
UPI0009A3C1C8		whale shark		360
Q7Z3B3-4	Isoform 2 of KAT8 regulatory NSL complex subunit 1		HUMAN		436	UniRef50_Q7Z3B3-2
Uncharacterized protein (Fragment)		Micrurus lemniscatus lemniscatus		364
UPI0005298C99		COLST		412
UPI0009A3C1C8		whale shark		360

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
CCDSⁱ	CCDS11503.2 [Q7Z3B3-1]
PIRⁱ	T17259 T46385
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
UniGeneⁱ	Hs.648744

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4CY1	X-ray	1.50	C/D	585-598	[»]
	4CY2	X-ray	2.00	D	585-598	[»]
ProteinModelPortalⁱ	Q7Z3B3
SMRⁱ	Q7Z3B3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	129744, 49 interactors
ComplexPortalⁱ	CPX-809 NSL histone acetyltransferase complex
CORUMⁱ	Q7Z3B3
ELMⁱ	Q7Z3B3
IntActⁱ	Q7Z3B3, 37 interactors
MINTⁱ	Q7Z3B3
STRINGⁱ	9606.ENSP00000262419

PTM databases

iPTMnetⁱ	Q7Z3B3
PhosphoSitePlusⁱ	Q7Z3B3

Polymorphism and mutation databases

BioMutaⁱ	KANSL1
DMDMⁱ	334302834

Proteomic databases

EPDⁱ	Q7Z3B3
MaxQBⁱ	Q7Z3B3
PaxDbⁱ	Q7Z3B3
PeptideAtlasⁱ	Q7Z3B3
PRIDEⁱ	Q7Z3B3
ProteomicsDBⁱ	69022 69023 [Q7Z3B3-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	284058
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000262419; ENSP00000262419; ENSG00000120071 ENST00000432791; ENSP00000387393; ENSG00000120071 ENST00000572904; ENSP00000461484; ENSG00000120071 ENST00000574590; ENSP00000461812; ENSG00000120071
GeneIDⁱ	284058
KEGGⁱ	hsa:284058
UCSCⁱ	uc002ikc.4 human [Q7Z3B3-1]

Organism-specific databases

CTDⁱ	284058
DisGeNETⁱ	284058
EuPathDBⁱ	HostDB:ENSG00000120071.12
GeneCardsⁱ	KANSL1
GeneReviewsⁱ	KANSL1
HGNCⁱ	HGNC:24565 KANSL1
HPAⁱ	HPA006874 HPA007208
MalaCardsⁱ	KANSL1
MIMⁱ	612452 gene
neXtProtⁱ	NX_Q7Z3B3
Orphanetⁱ	363958 17q21.31 microdeletion syndrome 363965 Koolen-De Vries syndrome due to a point mutation
PharmGKBⁱ	PA142671604
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IKZN Eukaryota ENOG410ZYQQ LUCA
HOVERGENⁱ	HBG080054
InParanoidⁱ	Q7Z3B3
KOⁱ	K18400
OrthoDBⁱ	EOG091G08OO
PhylomeDBⁱ	Q7Z3B3
TreeFamⁱ	TF336511

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3214847 HATs acetylate histones

Reactomeⁱ

R-HSA-3214847 HATs acetylate histones

Miscellaneous databases

ChiTaRSⁱ	KANSL1 human
GeneWikiⁱ	KIAA1267
GenomeRNAiⁱ	284058
Protein Ontology More...PROⁱ	PR:Q7Z3B3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000120071 Expressed in 212 organ(s), highest expression level in corpus callosum
CleanExⁱ	HS_KIAA1267
ExpressionAtlasⁱ	Q7Z3B3 baseline and differential
Genevisibleⁱ	Q7Z3B3 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR026180 NSL1 IPR029332 PEHE_dom
PANTHERⁱ	PTHR22443 PTHR22443, 1 hit
Pfamⁱ	View protein in Pfam PF15275 PEHE, 1 hit
SMARTⁱ	View protein in SMART SM01300 PEHE, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KANL1_HUMAN
Accessionⁱ	Q7Z3B3Primary (citable) accession number: Q7Z3B3 Secondary accession number(s): A8K5E4 Q9ULF3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
	Last sequence update:	May 31, 2011
	Last modified:	November 7, 2018
	This is version 131 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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UniProtKB - Q7Z3B3 (KANL1_HUMAN)

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KAT8 regulatory NSL complex subunit 1

KANSL1

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<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

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GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

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Nucleus

Other locations

Keywords - Cellular componenti

<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

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Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

<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

Coiled coil

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ