LMBL4_HUMAN
ID LMBL4_HUMAN Reviewed; 623 AA.
AC Q8NA19; A8MTL8; Q8IXS3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Lethal(3)malignant brain tumor-like protein 4;
DE Short=H-l(3)mbt-like protein 4;
DE Short=L(3)mbt-like protein 4;
DE Short=L3mbt-like 4;
GN Name=L3MBTL4;
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 1), AND VARIANT ASP-618.
RC TISSUE=Testis;
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=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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).
CC -!- FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins maintain
CC the transcriptionally repressive state of genes, probably via a
CC modification of chromatin, rendering it heritably changed in its
CC expressibility (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q8NA19; Q9Y2I6: NINL; NbExp=3; IntAct=EBI-8833581, EBI-719716;
CC Q8NA19-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-12778187, EBI-7116203;
CC Q8NA19-2; O00505: KPNA3; NbExp=3; IntAct=EBI-12778187, EBI-358297;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NA19-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NA19-2; Sequence=VSP_033863, VSP_033864;
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DR EMBL; AK093255; BAC04111.1; -; mRNA.
DR EMBL; AP000874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001021; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP005060; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP005228; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471113; EAX01639.1; -; Genomic_DNA.
DR EMBL; CH471113; EAX01640.1; -; Genomic_DNA.
DR EMBL; BC039316; AAH39316.1; -; mRNA.
DR CCDS; CCDS11839.2; -. [Q8NA19-1]
DR RefSeq; NP_775735.2; NM_173464.3. [Q8NA19-1]
DR RefSeq; XP_011524063.1; XM_011525761.1.
DR AlphaFoldDB; Q8NA19; -.
DR SMR; Q8NA19; -.
DR BioGRID; 124797; 22.
DR IntAct; Q8NA19; 19.
DR MINT; Q8NA19; -.
DR STRING; 9606.ENSP00000382976; -.
DR BindingDB; Q8NA19; -.
DR ChEMBL; CHEMBL1287624; -.
DR GlyGen; Q8NA19; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NA19; -.
DR PhosphoSitePlus; Q8NA19; -.
DR BioMuta; L3MBTL4; -.
DR DMDM; 296434577; -.
DR MassIVE; Q8NA19; -.
DR PaxDb; Q8NA19; -.
DR PeptideAtlas; Q8NA19; -.
DR PRIDE; Q8NA19; -.
DR ProteomicsDB; 72622; -. [Q8NA19-1]
DR ProteomicsDB; 72623; -. [Q8NA19-2]
DR ABCD; Q8NA19; 2 sequenced antibodies.
DR Antibodypedia; 21922; 132 antibodies from 22 providers.
DR DNASU; 91133; -.
DR Ensembl; ENST00000400104.7; ENSP00000382975.3; ENSG00000154655.16. [Q8NA19-2]
DR Ensembl; ENST00000400105.6; ENSP00000382976.2; ENSG00000154655.16. [Q8NA19-1]
DR GeneID; 91133; -.
DR KEGG; hsa:91133; -.
DR UCSC; uc002kmz.4; human. [Q8NA19-1]
DR CTD; 91133; -.
DR DisGeNET; 91133; -.
DR GeneCards; L3MBTL4; -.
DR HGNC; HGNC:26677; L3MBTL4.
DR HPA; ENSG00000154655; Low tissue specificity.
DR MIM; 617135; gene.
DR neXtProt; NX_Q8NA19; -.
DR OpenTargets; ENSG00000154655; -.
DR PharmGKB; PA134935795; -.
DR VEuPathDB; HostDB:ENSG00000154655; -.
DR eggNOG; KOG3766; Eukaryota.
DR GeneTree; ENSGT00940000158264; -.
DR InParanoid; Q8NA19; -.
DR OMA; HPRGLEY; -.
DR OrthoDB; 63195at2759; -.
DR PhylomeDB; Q8NA19; -.
DR TreeFam; TF316498; -.
DR PathwayCommons; Q8NA19; -.
DR SignaLink; Q8NA19; -.
DR BioGRID-ORCS; 91133; 7 hits in 1092 CRISPR screens.
DR ChiTaRS; L3MBTL4; human.
DR GenomeRNAi; 91133; -.
DR Pharos; Q8NA19; Tbio.
DR PRO; PR:Q8NA19; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q8NA19; protein.
DR Bgee; ENSG00000154655; Expressed in oviduct epithelium and 128 other tissues.
DR ExpressionAtlas; Q8NA19; baseline and differential.
DR Genevisible; Q8NA19; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006325; P:chromatin organization; IEA:UniProtKB-KW.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR Gene3D; 1.10.150.50; -; 1.
DR InterPro; IPR004092; Mbt.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR InterPro; IPR002515; Znf_C2H2C.
DR Pfam; PF02820; MBT; 3.
DR Pfam; PF00536; SAM_1; 1.
DR Pfam; PF01530; zf-C2HC; 1.
DR SMART; SM00561; MBT; 3.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
DR PROSITE; PS51079; MBT; 3.
DR PROSITE; PS50105; SAM_DOMAIN; 1.
DR PROSITE; PS51802; ZF_CCHHC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromatin regulator; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..623
FT /note="Lethal(3)malignant brain tumor-like protein 4"
FT /id="PRO_0000337077"
FT REPEAT 52..152
FT /note="MBT 1"
FT REPEAT 160..260
FT /note="MBT 2"
FT REPEAT 269..364
FT /note="MBT 3"
FT DOMAIN 543..607
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT ZN_FING 370..414
FT /note="CCHHC-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01143"
FT REGION 1..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..37
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 379
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01143"
FT BINDING 384
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01143"
FT BINDING 398
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01143"
FT BINDING 404
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01143"
FT VAR_SEQ 482..534
FT /note="VLVLHPRGLEYSVEQAQQVLHQSVSMSTVSAHPFRDLPLGREQHCKLLPGVA
FT D -> GRVRWLMPVIPALWEAEAGRSRDQEIKTILANAVKPRLYQKYKKLARRGGGCL
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033863"
FT VAR_SEQ 535..623
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033864"
FT VARIANT 489
FT /note="G -> S (in dbSNP:rs12958879)"
FT /id="VAR_060435"
FT VARIANT 618
FT /note="G -> D (in dbSNP:rs3737353)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_060436"
FT CONFLICT 504
FT /note="S -> P (in Ref. 1; BAC04111)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 623 AA; 71122 MW; CBD7FC6004599B10 CRC64;
MKQPNRKRKL NMDSKERLDQ DGRLEQAEEE KKPKDSTTPL SHVPSAAAQG AWSWEWYLKE
QKAVAAPVEL FSKDQSFPEH ENGFQIGMRL EGIDPRHPSV FCVLSVAEVC GYRLRLHFDG
YLSCYDFWTN AGSPDIHPVG WCEKTKHELH IPKGYRKDKF VWMDYLKACK LQNAPKKLFR
NRSPNGPMSK EFQVGMKLEA VDRKNPSLVC VATIADIVED RLLVHFDNWD DSYDYWCDVN
SPYVQPVGWC QENGRTLIAP QGYPNPENFS WTEYLEATQT NAVPAKVFKM RLPHGFLPNM
KLEVVDKRNP RLIRVATIVD VDDQRVKVHF DGWDHKYDYW VEADSPDIHP IGWCDVTGHP
LEVPQRTNDL KILPGQAVCP TPGCRGIGHI RGPRYSGHHS AFGCPYSDMN LKKEATLHDR
LREQTQANLE SDSSHSKSKS LCSLNFNGKH EKVNSQPRLV QQAKCLKIKG KEDIDLDNLF
RVLVLHPRGL EYSVEQAQQV LHQSVSMSTV SAHPFRDLPL GREQHCKLLP GVADIRASQV
ARWTVDEVAE FVQSLLGCEE HAKCFKKEQI DGKAFLLLTQ TDIVKVMKIK LGPALKIYNS
ILMFRHSQEL PEEDIASGQE VRG
