Q7Z3B3 (KANL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	KANSL1
Synonyms:	KIAA1267, MSL1V1, NSL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1105 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.10
Subunit structure	Component of some MLL1/MLL complex, at least composed of the core components MLL, 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. Ref.7 Ref.8 Ref.9 Ref.10 Ref.11
Subcellular location	Nucleus Ref.10.
Tissue specificity	Expressed in the brain. Ref.6
Sequence caution	The sequence CAH10565.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Molecular function	Chromatin regulator
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	histone H4-K16 acetylation Inferred from direct assay Ref.10. Source: UniProtKB histone H4-K5 acetylation Inferred from direct assay Ref.10. Source: UniProtKB histone H4-K8 acetylation Inferred from direct assay Ref.10. Source: UniProtKB
Cellular_component	MLL1 complex Inferred from direct assay Ref.7. Source: UniProtKB histone acetyltransferase complex Inferred from direct assay Ref.10. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CCDC85B	Q15834	2	EBI-740244,EBI-739674

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z3B3-1)

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.

Isoform 2 (identifier: Q7Z3B3-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1105	1105	KAT8 regulatory NSL complex subunit 1		PRO_0000234565
Regions
	Region	883 – 1105	223	Sufficient for interaction with KAT8
	Coiled coil	283 – 314	32	Potential
Amino acid modifications
	Modified residue	991	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 669	669	Missing in isoform 2.		VSP_041132
	Alternative sequence	670 – 673	4	AFPD → MFLA in isoform 2.		VSP_041133
	Natural variant	104	1	K → T. Corresponds to variant rs17585974 [ dbSNP | Ensembl ].		VAR_049515
	Natural variant	221	1	T → I. Corresponds to variant rs17662853 [ dbSNP | Ensembl ].		VAR_049516
	Natural variant	225	1	N → D. Corresponds to variant rs35643216 [ dbSNP | Ensembl ].		VAR_049517
	Natural variant	718	1	S → P. Corresponds to variant rs34043286 [ dbSNP | Ensembl ].		VAR_049518
	Natural variant	1010	1	P → L. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs7220988 [ dbSNP | Ensembl ].		VAR_026287
	Natural variant	1085	1	I → T. Corresponds to variant rs34579536 [ dbSNP | Ensembl ].		VAR_049519
Experimental info
	Sequence conflict	525	1	R → P in BAA86581. Ref.1
	Sequence conflict	525	1	R → P in BAF83948. Ref.2
	Sequence conflict	525	1	R → P in CAD97958. Ref.3
	Sequence conflict	525	1	R → P in AAH98376. Ref.4
	Sequence conflict	530	1	I → F in CAB70694. Ref.3
	Sequence conflict	683	1	S → G in CAH10565. Ref.3
	Sequence conflict	849	1	Missing in BAF83948. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 31, 2011. Version 2. Checksum: B69D11BC522B9CAD	FASTA	1,105	121,025
	10 20 30 40 50 60 MAAMAPALTD AAAEAHHIRF KLAPPSSTLS PGSAENNGNA NILIAANGTK RKAIAAEDPS 70 80 90 100 110 120 LDFRNNPTKE DLGKLQPLVA SYLCSDVTSV PSKESLKLQG VFSKQTVLKS HPLLSQSYEL 130 140 150 160 170 180 RAELLGRQPV LEFSLENLRT MNTSGQTALP QAPVNGLAKK LTKSSTHSDH DNSTSLNGGK 190 200 210 220 230 240 RALTSSALHG GEMGGSESGD LKGGMTNCTL PHRSLDVEHT TLYSNNSTAN KSSVNSMEQP 250 260 270 280 290 300 ALQGSSRLSP GTDSSSNLGG VKLEGKKSPL SSILFSALDS DTRITALLRR QADIESRARR 310 320 330 340 350 360 LQKRLQVVQA KQVERHIQHQ LGGFLEKTLS KLPNLESLRP RSQLMLTRKA EAALRKAASE 370 380 390 400 410 420 TTTSEGLSNF LKSNSISEEL ERFTASGIAN LRCSEQAFDS DVTDSSSGGE SDIEEEELTR 430 440 450 460 470 480 ADPEQRHVPL RRRSEWKWAA DRAAIVSRWN WLQAHVSDLE YRIRQQTDIY KQIRANKGLI 490 500 510 520 530 540 VLGEVPPPEH TTDLFLPLSS EVKTDHGTDK LIESVSQPLE NHGARIIGHI SESLSTKSCG 550 560 570 580 590 600 ALRPVNGVIN TLQPVLADHI PGDSSDAEEQ LHKKQRLNLV SSSSDGTCVA ARTRPVLSCK 610 620 630 640 650 660 KRRLVRPNSI VPLSKKVHRN STIRPGCDVN PSCALCGSGS INTMPPEIHY EAPLLERLSQ 670 680 690 700 710 720 LDSCVHPVLA FPDDVPTSLH FQSMLKSQWQ NKPFDKIKPP KKLSLKHRAP MPGSLPDSAR 730 740 750 760 770 780 KDRHKLVSSF LTTAKLSHHQ TRPDRTHRQH LDDVGAVPMV ERVTAPKAER LLNPPPPVHD 790 800 810 820 830 840 PNHSKMRLRD HSSERSEVLK HHTDMSSSSY LAATHHPPHS PLVRQLSTSS DSPAPASSSS 850 860 870 880 890 900 QVTASTSQQP VRRRRGESSF DINNIVIPMS VAATTRVEKL QYKEILTPSW REVDLQSLKG 910 920 930 940 950 960 SPDEENEEIE DLSDAAFAAL HAKCEEMERA RWLWTTSVPP QRRGSRSYRS SDGRTTPQLG 970 980 990 1000 1010 1020 SANPSTPQPA SPDVSSSHSL SEYSHGQSPR SPISPELHSA PLTPVARDTP RHLASEDTRC 1030 1040 1050 1060 1070 1080 STPELGLDEQ SVQPWERRTF PLAHSPQAEC EDQLDAQERA ARCTRRTSGS KTGRETEAAP 1090 1100 TSPPIVPLKS RHLVAAATAQ RPTHR
	Isoform 2 [UniParc]. Checksum: EFA2A4A2BE70F67E	FASTA	436	48,445
	10 20 30 40 50 60 MFLADVPTSL HFQSMLKSQW QNKPFDKIKP PKKLSLKHRA PMPGSLPDSA RKDRHKLVSS 70 80 90 100 110 120 FLTTAKLSHH QTRPDRTHRQ HLDDVGAVPM VERVTAPKAE RLLNPPPPVH DPNHSKMRLR 130 140 150 160 170 180 DHSSERSEVL KHHTDMSSSS YLAATHHPPH SPLVRQLSTS SDSPAPASSS SQVTASTSQQ 190 200 210 220 230 240 PVRRRRGESS FDINNIVIPM SVAATTRVEK LQYKEILTPS WREVDLQSLK GSPDEENEEI 250 260 270 280 290 300 EDLSDAAFAA LHAKCEEMER ARWLWTTSVP PQRRGSRSYR SSDGRTTPQL GSANPSTPQP 310 320 330 340 350 360 ASPDVSSSHS LSEYSHGQSP RSPISPELHS APLTPVARDT PRHLASEDTR CSTPELGLDE 370 380 390 400 410 420 QSVQPWERRT FPLAHSPQAE CEDQLDAQER AARCTRRTSG SKTGRETEAA PTSPPIVPLK 430 SRHLVAAATA QRPTHR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-1010. Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-1010. Tissue: Teratocarcinoma.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-1010. Tissue: Fetal kidney, Mammary cancer and Testis.
[4]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-1010. Tissue: Leukocyte and PNS.
[6]	"A genomic sequence analysis of the mouse and human microtubule-associated protein tau." Poorkaj P., Kas A., D'Souza I., Zhou Y., Pham Q., Stone M., Olson M.V., Schellenberg G.D. Mamm. Genome 12:700-712(2001) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF." Dou Y., Milne T.A., Tackett A.J., Smith E.R., Fukuda A., Wysocka J., Allis C.D., Chait B.T., Hess J.L., Roeder R.G. Cell 121:873-885(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE MLL1/MLL COMPLEX.
[8]	"A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16." Smith E.R., Cayrou C., Huang R., Lane W.S., Cote J., Lucchesi J.C. Mol. Cell. Biol. 25:9175-9188(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A MULTIPROTEIN COMPLEX.
[9]	"Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila." Mendjan S., Taipale M., Kind J., Holz H., Gebhardt P., Schelder M., Vermeulen M., Buscaino A., Duncan K., Mueller J., Wilm M., Stunnenberg H.G., Saumweber H., Akhtar A. Mol. Cell 21:811-823(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE NSL COMPLEX, INTERACTION WITH KAT8.
[10]	"Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex." Cai Y., Jin J., Swanson S.K., Cole M.D., Choi S.H., Florens L., Washburn M.P., Conaway J.W., Conaway R.C. J. Biol. Chem. 285:4268-4272(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN HISTONE H4 ACETYLATION, IDENTIFICATION IN NSL COMPLEX, SUBCELLULAR LOCATION.
[11]	"The nonspecific lethal complex is a transcriptional regulator in Drosophila." Raja S.J., Charapitsa I., Conrad T., Vaquerizas J.M., Gebhardt P., Holz H., Kadlec J., Fraterman S., Luscombe N.M., Akhtar A. Mol. Cell 38:827-841(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH KAT8.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00384972. IPI00748004.
PIR	T17259. T46385.
RefSeq	NP_001180394.1. NM_001193465.1. NP_001180395.1. NM_001193466.1. NP_056258.1. NM_015443.3.
UniGene	Hs.648744.
3D structure databases
ProteinModelPortal	Q7Z3B3.
SMR	Q7Z3B3. Positions 886-932.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z3B3. 13 interactions.
MINT	MINT-1183636.
STRING	9606.ENSP00000262419.
PTM databases
PhosphoSite	Q7Z3B3.
Polymorphism databases
DMDM	74713349.
Proteomic databases
PaxDb	Q7Z3B3.
PRIDE	Q7Z3B3.
Protocols and materials databases
DNASU	284058.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262419; ENSP00000262419; ENSG00000120071. ENST00000432791; ENSP00000387393; ENSG00000120071. ENST00000572904; ENSP00000461484; ENSG00000120071. ENST00000574590; ENSP00000461812; ENSG00000120071.
GeneID	284058.
KEGG	hsa:284058.
UCSC	uc002ikc.3. human. uc010wkb.2. human.
Organism-specific databases
CTD	284058.
GeneCards	GC17M044108.
HGNC	HGNC:24565. KANSL1.
HPA	HPA006874. HPA007208.
MIM	612452. gene.
neXtProt	NX_Q7Z3B3.
Orphanet	96169. 17q21.31 microdeletion syndrome.
PharmGKB	PA142671604.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG87566.
HOVERGEN	HBG080054.
InParanoid	Q7Z3B3.
OMA	EDPSLDF.
OrthoDB	EOG4Z0B54.
Gene expression databases
ArrayExpress	Q7Z3B3.
Bgee	Q7Z3B3.
CleanEx	HS_KIAA1267.
Genevestigator	Q7Z3B3.
GermOnline	ENSG00000120071. Homo sapiens.
Family and domain databases
InterPro	IPR026180. NSL1. [Graphical view]
PANTHER	PTHR22443. PTHR22443. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	284058.
NextBio	94492.
SOURCE	Search...

Entry information

Entry name

KANL1_HUMAN

Accession

Primary (citable) accession number: Q7Z3B3
Secondary accession number(s): A8K5E4 , Q6AW85, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	May 31, 2011
Last modified:	April 3, 2013
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.