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Protein

Lethal(3)malignant brain tumor-like protein 4

Gene

L3MBTL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 414CCHHC-typePROSITE-ProRule annotationAdd BLAST45

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Lethal(3)malignant brain tumor-like protein 4
Short name:
H-l(3)mbt-like protein 4
Short name:
L(3)mbt-like protein 4
Short name:
L3mbt-like 4
Gene namesi
Name:L3MBTL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000154655.14
HGNCiHGNC:26677 L3MBTL4
MIMi617135 gene
neXtProtiNX_Q8NA19

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi91133
OpenTargetsiENSG00000154655
PharmGKBiPA134935795

Chemistry databases

ChEMBLiCHEMBL1287624

Polymorphism and mutation databases

BioMutaiL3MBTL4
DMDMi296434577

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003370771 – 623Lethal(3)malignant brain tumor-like protein 4Add BLAST623

Proteomic databases

PaxDbiQ8NA19
PeptideAtlasiQ8NA19
PRIDEiQ8NA19

PTM databases

iPTMnetiQ8NA19
PhosphoSitePlusiQ8NA19

Expressioni

Gene expression databases

BgeeiENSG00000154655
CleanExiHS_L3MBTL4
ExpressionAtlasiQ8NA19 baseline and differential
GenevisibleiQ8NA19 HS

Organism-specific databases

HPAiHPA064194
HPA069042

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NINLQ9Y2I63EBI-8833581,EBI-719716

Protein-protein interaction databases

BioGridi124797, 2 interactors
IntActiQ8NA19, 11 interactors
STRINGi9606.ENSP00000284898

Chemistry databases

BindingDBiQ8NA19

Structurei

3D structure databases

ProteinModelPortaliQ8NA19
SMRiQ8NA19
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati52 – 152MBT 1Add BLAST101
Repeati160 – 260MBT 2Add BLAST101
Repeati269 – 364MBT 3Add BLAST96
Domaini543 – 607SAMPROSITE-ProRule annotationAdd BLAST65

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 414CCHHC-typePROSITE-ProRule annotationAdd BLAST45

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG3766 Eukaryota
ENOG410Y4AQ LUCA
GeneTreeiENSGT00760000119024
HOGENOMiHOG000231019
HOVERGENiHBG071375
InParanoidiQ8NA19
OMAiLGCEEHA
OrthoDBiEOG091G01BW
PhylomeDBiQ8NA19
TreeFamiTF316498

Family and domain databases

InterProiView protein in InterPro
IPR004092 Mbt
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR002515 Znf_C2HC
PfamiView protein in Pfam
PF02820 MBT, 3 hits
PF00536 SAM_1, 1 hit
PF01530 zf-C2HC, 1 hit
SMARTiView protein in SMART
SM00561 MBT, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS51079 MBT, 3 hits
PS50105 SAM_DOMAIN, 1 hit
PS51802 ZF_CCHHC, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NA19-1) [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
MKQPNRKRKL NMDSKERLDQ DGRLEQAEEE KKPKDSTTPL SHVPSAAAQG
60 70 80 90 100
AWSWEWYLKE QKAVAAPVEL FSKDQSFPEH ENGFQIGMRL EGIDPRHPSV
110 120 130 140 150
FCVLSVAEVC GYRLRLHFDG YLSCYDFWTN AGSPDIHPVG WCEKTKHELH
160 170 180 190 200
IPKGYRKDKF VWMDYLKACK LQNAPKKLFR NRSPNGPMSK EFQVGMKLEA
210 220 230 240 250
VDRKNPSLVC VATIADIVED RLLVHFDNWD DSYDYWCDVN SPYVQPVGWC
260 270 280 290 300
QENGRTLIAP QGYPNPENFS WTEYLEATQT NAVPAKVFKM RLPHGFLPNM
310 320 330 340 350
KLEVVDKRNP RLIRVATIVD VDDQRVKVHF DGWDHKYDYW VEADSPDIHP
360 370 380 390 400
IGWCDVTGHP LEVPQRTNDL KILPGQAVCP TPGCRGIGHI RGPRYSGHHS
410 420 430 440 450
AFGCPYSDMN LKKEATLHDR LREQTQANLE SDSSHSKSKS LCSLNFNGKH
460 470 480 490 500
EKVNSQPRLV QQAKCLKIKG KEDIDLDNLF RVLVLHPRGL EYSVEQAQQV
510 520 530 540 550
LHQSVSMSTV SAHPFRDLPL GREQHCKLLP GVADIRASQV ARWTVDEVAE
560 570 580 590 600
FVQSLLGCEE HAKCFKKEQI DGKAFLLLTQ TDIVKVMKIK LGPALKIYNS
610 620
ILMFRHSQEL PEEDIASGQE VRG
Length:623
Mass (Da):71,122
Last modified:May 18, 2010 - v2
Checksum:iCBD7FC6004599B10
GO
Isoform 2 (identifier: Q8NA19-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     482-534: VLVLHPRGLE...HCKLLPGVAD → GRVRWLMPVI...KLARRGGGCL
     535-623: Missing.

Note: No experimental confirmation available.
Show »
Length:534
Mass (Da):61,256
Checksum:iA84D557682793483
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti504S → P in BAC04111 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060435489G → S. Corresponds to variant dbSNP:rs12958879Ensembl.1
Natural variantiVAR_060436618G → D1 PublicationCorresponds to variant dbSNP:rs3737353Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033863482 – 534VLVLH…PGVAD → GRVRWLMPVIPALWEAEAGR SRDQEIKTILANAVKPRLYQ KYKKLARRGGGCL in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_033864535 – 623Missing in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093255 mRNA Translation: BAC04111.1
AP000874 Genomic DNA No translation available.
AP001021 Genomic DNA No translation available.
AP005060 Genomic DNA No translation available.
AP005228 Genomic DNA No translation available.
CH471113 Genomic DNA Translation: EAX01639.1
CH471113 Genomic DNA Translation: EAX01640.1
BC039316 mRNA Translation: AAH39316.1
CCDSiCCDS11839.2 [Q8NA19-1]
RefSeqiNP_775735.2, NM_173464.3 [Q8NA19-1]
XP_011524063.1, XM_011525761.1 [Q8NA19-1]
UniGeneiHs.128279
Hs.683795

Genome annotation databases

EnsembliENST00000400104; ENSP00000382975; ENSG00000154655 [Q8NA19-2]
ENST00000400105; ENSP00000382976; ENSG00000154655 [Q8NA19-1]
GeneIDi91133
KEGGihsa:91133
UCSCiuc002kmz.4 human [Q8NA19-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLMBL4_HUMAN
AccessioniPrimary (citable) accession number: Q8NA19
Secondary accession number(s): A8MTL8, Q8IXS3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 18, 2010
Last modified: April 25, 2018
This is version 120 of the entry and version 2 of the sequence. See 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

Complete proteome, Reference proteome

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