KAL1L_HUMAN
ID KAL1L_HUMAN Reviewed; 987 AA.
AC A0AUZ9; B7ZLN1; I6L9A8; Q53TV8; Q53TW3; Q6IS05; Q8TCI1; Q96MI0; Q9UFC3;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=KAT8 regulatory NSL complex subunit 1-like protein;
DE AltName: Full=MSL1v2;
GN Name=KANSL1L; Synonyms=C2orf67;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Lung, and Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 307-987 (ISOFORM 4).
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 532-987 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-859, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [7]
RP ACETYLATION BY KAT8, AND DEACETYLATION BY HDAC3.
RX PubMed=24145748; DOI=10.3390/ijms141020966;
RA Chu Y.L., Wu X., Xu J., Watts J.L., Her C.;
RT "DNA damage induced MutS homologue hMSH4 acetylation.";
RL Int. J. Mol. Sci. 14:20966-20982(2013).
RN [8]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-134, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=A0AUZ9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A0AUZ9-2; Sequence=VSP_031499;
CC Name=3;
CC IsoId=A0AUZ9-3; Sequence=VSP_031500, VSP_031501;
CC Name=4;
CC IsoId=A0AUZ9-4; Sequence=VSP_031497, VSP_031498;
CC -!- PTM: Acetylated on lysine residues by KAT8 upon ionizing radiation-
CC induced DNA damage; deacetylated by HDAC3.
CC {ECO:0000269|PubMed:24145748}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB85085.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB85085.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB85085.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK056911; BAB71308.1; -; mRNA.
DR EMBL; AK074441; BAB85085.1; ALT_SEQ; mRNA.
DR EMBL; AC006994; AAY14880.1; -; Genomic_DNA.
DR EMBL; AC007038; AAX93088.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70479.1; -; Genomic_DNA.
DR EMBL; BC032837; AAH32837.1; -; mRNA.
DR EMBL; BC070141; AAH70141.1; -; mRNA.
DR EMBL; BC126155; AAI26156.1; -; mRNA.
DR EMBL; BC143914; AAI43915.1; -; mRNA.
DR EMBL; AL133053; CAB61379.1; -; mRNA.
DR CCDS; CCDS33370.1; -. [A0AUZ9-1]
DR CCDS; CCDS77519.1; -. [A0AUZ9-2]
DR PIR; T42655; T42655.
DR RefSeq; NP_001294905.1; NM_001307976.1. [A0AUZ9-2]
DR RefSeq; NP_689732.2; NM_152519.3. [A0AUZ9-1]
DR RefSeq; XP_005246386.1; XM_005246329.4. [A0AUZ9-1]
DR RefSeq; XP_005246387.1; XM_005246330.4. [A0AUZ9-1]
DR RefSeq; XP_011509008.1; XM_011510706.2. [A0AUZ9-1]
DR RefSeq; XP_011509009.1; XM_011510707.2. [A0AUZ9-1]
DR RefSeq; XP_016858919.1; XM_017003430.1. [A0AUZ9-1]
DR AlphaFoldDB; A0AUZ9; -.
DR SMR; A0AUZ9; -.
DR BioGRID; 127340; 3.
DR IntAct; A0AUZ9; 2.
DR STRING; 9606.ENSP00000281772; -.
DR iPTMnet; A0AUZ9; -.
DR PhosphoSitePlus; A0AUZ9; -.
DR BioMuta; KANSL1L; -.
DR EPD; A0AUZ9; -.
DR jPOST; A0AUZ9; -.
DR MassIVE; A0AUZ9; -.
DR PaxDb; A0AUZ9; -.
DR PeptideAtlas; A0AUZ9; -.
DR PRIDE; A0AUZ9; -.
DR ProteomicsDB; 5; -. [A0AUZ9-1]
DR ProteomicsDB; 6; -. [A0AUZ9-2]
DR ProteomicsDB; 7; -. [A0AUZ9-3]
DR ProteomicsDB; 8; -. [A0AUZ9-4]
DR Antibodypedia; 63309; 34 antibodies from 13 providers.
DR DNASU; 151050; -.
DR Ensembl; ENST00000281772.14; ENSP00000281772.8; ENSG00000144445.17. [A0AUZ9-1]
DR Ensembl; ENST00000418791.5; ENSP00000405724.1; ENSG00000144445.17. [A0AUZ9-2]
DR Ensembl; ENST00000452086.5; ENSP00000401408.1; ENSG00000144445.17. [A0AUZ9-3]
DR Ensembl; ENST00000457374.5; ENSP00000393432.1; ENSG00000144445.17. [A0AUZ9-3]
DR GeneID; 151050; -.
DR KEGG; hsa:151050; -.
DR MANE-Select; ENST00000281772.14; ENSP00000281772.8; NM_152519.4; NP_689732.2.
DR UCSC; uc002vds.4; human. [A0AUZ9-1]
DR CTD; 151050; -.
DR DisGeNET; 151050; -.
DR GeneCards; KANSL1L; -.
DR HGNC; HGNC:26310; KANSL1L.
DR HPA; ENSG00000144445; Tissue enriched (parathyroid).
DR MIM; 613833; gene.
DR neXtProt; NX_A0AUZ9; -.
DR OpenTargets; ENSG00000144445; -.
DR PharmGKB; PA162379439; -.
DR VEuPathDB; HostDB:ENSG00000144445; -.
DR eggNOG; ENOG502QRI7; Eukaryota.
DR GeneTree; ENSGT00530000063688; -.
DR HOGENOM; CLU_011035_1_0_1; -.
DR InParanoid; A0AUZ9; -.
DR OMA; WRVVDIQ; -.
DR OrthoDB; 191128at2759; -.
DR PhylomeDB; A0AUZ9; -.
DR TreeFam; TF336511; -.
DR PathwayCommons; A0AUZ9; -.
DR SignaLink; A0AUZ9; -.
DR BioGRID-ORCS; 151050; 12 hits in 1083 CRISPR screens.
DR ChiTaRS; KANSL1L; human.
DR GenomeRNAi; 151050; -.
DR Pharos; A0AUZ9; Tdark.
DR PRO; PR:A0AUZ9; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; A0AUZ9; protein.
DR Bgee; ENSG00000144445; Expressed in calcaneal tendon and 176 other tissues.
DR ExpressionAtlas; A0AUZ9; baseline and differential.
DR Genevisible; A0AUZ9; HS.
DR GO; GO:0044545; C:NSL complex; IBA:GO_Central.
DR GO; GO:0035035; F:histone acetyltransferase binding; IBA:GO_Central.
DR InterPro; IPR026180; NSL1.
DR InterPro; IPR029332; PEHE_dom.
DR PANTHER; PTHR22443; PTHR22443; 1.
DR Pfam; PF15275; PEHE; 1.
DR SMART; SM01300; PEHE; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Isopeptide bond; Phosphoprotein;
KW Reference proteome; Ubl conjugation.
FT CHAIN 1..987
FT /note="KAT8 regulatory NSL complex subunit 1-like protein"
FT /id="PRO_0000319582"
FT REGION 708..738
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 949..972
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 708..732
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 462
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5DTI6"
FT MOD_RES 859
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT CROSSLNK 134
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 641..648
FT /note="DVPLHFHF -> GKPPCNNF (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031497"
FT VAR_SEQ 649..987
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031498"
FT VAR_SEQ 677..718
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031499"
FT VAR_SEQ 677..705
FT /note="VHSTLNQWRNGYSPICKPQIRSESSAQLL -> GMSHLQFLYSICLFMSLYL
FT LFLHSKKNKI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031500"
FT VAR_SEQ 706..987
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031501"
FT CONFLICT 401
FT /note="D -> G (in Ref. 1; BAB71308)"
FT /evidence="ECO:0000305"
FT CONFLICT 458
FT /note="D -> G (in Ref. 1; BAB71308)"
FT /evidence="ECO:0000305"
FT CONFLICT 471
FT /note="R -> G (in Ref. 1; BAB85085)"
FT /evidence="ECO:0000305"
FT CONFLICT 501
FT /note="S -> F (in Ref. 1; BAB85085)"
FT /evidence="ECO:0000305"
FT CONFLICT 587
FT /note="L -> W (in Ref. 5; CAB61379)"
FT /evidence="ECO:0000305"
FT CONFLICT 606
FT /note="A -> T (in Ref. 1; BAB71308)"
FT /evidence="ECO:0000305"
FT CONFLICT 756
FT /note="S -> I (in Ref. 1; BAB85085)"
FT /evidence="ECO:0000305"
FT CONFLICT 848
FT /note="K -> Q (in Ref. 1; BAB85085)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 987 AA; 112253 MW; FAAF236C850E6254 CRC64;
MTPALREATA KGISFSSLPS TMESDKMLYM ESPRTVDEKL KGDTFSQMLG FPTPEPTLNT
NFVNLKHFGS PQSSKHYQTV FLMRSNSTLN KHNENYKQKK LGEPSCNKLK NILYNGSNIQ
LSKICLSHSE EFIKKEPLSD TTSQCMKDVQ IILDSNITKD TNVDKVQLQN CKWYQENALL
DKVTDAEIKK GLLHCTQKKI VPGHSNVPVS SSAAEKEEEV HARLLHCVSK QKILLSQARR
TQKHLQMLLA KHVVKHYGQQ MKLSMKHQLP KMKTFHEPTT ILGNSLPKCT EIKPEVNTLT
AENKLWDDAK NGFARCTAAE IQRFAFSATG LLSHVEEGLD SDATDSSSDD DLDEYTLRKN
VAVNCSTEWK WLVDRARVGS RWTWLQAQIS DLECKIQQLT DIHRQIRASK GIVVLEECQL
PKDILKKQMQ FADQAASLNI LGNPQVPQEC QDPVPEQDFE MSPSSPTLLL RNIEKQSAQL
TEIINSLIAP LNLSPTSSPL SSKSCSHKCL ANGIYRSASE NLDELSSSSS WLLNQKHSKK
KRKDRTRLKS SSLTFMSTSA RTRPLQSFHK RKLYRLSPTF YWTPQTLPSK ETAFLNTTQM
PCLQSASTWS SYEHNSESYL LREHVSELDS SFHSVLSLPS DVPLHFHFET LLKKTEIKGN
LAENKFVDEY IISPSPVHST LNQWRNGYSP ICKPQIRSES SAQLLQGRKK RHLSETALGE
RTKLEESDFQ HTESGSHSNF TAVSNVNVLS RIQNSSRNTA RRRLRSESSY DIDNIVIPMS
LVAPAKLEKL QYKEILTPSW RMVVLQPLDE YNLGKEEIED LSDEVFSLRH KKYEEREQAR
WSLWEQSKWH RRNSRAYSKN VEGQDLLLKE YPNNFSSSQQ CAAASPPGLP SENQDLCAYG
LPSLNQSQET KSLWWERRAF PLKGEDMAAL LCQDEKKDQV ERSSTAFHGE IFGTSVPENG
HHPKKQSDGM EEYKTFGLGL TNVKKNR
