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Protein

Lethal(3)malignant brain tumor-like protein 4

Gene

L3MBTL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Transcription, Transcription regulation

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
Gene namesi
Name:L3MBTL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26677. L3MBTL4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134935795.

Chemistry

ChEMBLiCHEMBL1287624.

Polymorphism and mutation databases

BioMutaiL3MBTL4.
DMDMi296434577.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 623623Lethal(3)malignant brain tumor-like protein 4PRO_0000337077Add
BLAST

Proteomic databases

PaxDbiQ8NA19.
PRIDEiQ8NA19.

PTM databases

PhosphoSiteiQ8NA19.

Expressioni

Gene expression databases

BgeeiQ8NA19.
CleanExiHS_L3MBTL4.
ExpressionAtlasiQ8NA19. baseline and differential.
GenevisibleiQ8NA19. HS.

Organism-specific databases

HPAiHPA064194.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi124797. 2 interactions.
IntActiQ8NA19. 1 interaction.
STRINGi9606.ENSP00000284898.

Chemistry

BindingDBiQ8NA19.

Structurei

3D structure databases

ProteinModelPortaliQ8NA19.
SMRiQ8NA19. Positions 51-364, 543-597.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati52 – 152101MBT 1Add
BLAST
Repeati160 – 260101MBT 2Add
BLAST
Repeati269 – 36496MBT 3Add
BLAST
Domaini543 – 60765SAMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 MBT repeats.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3766. Eukaryota.
ENOG410Y4AQ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231019.
HOVERGENiHBG071375.
InParanoidiQ8NA19.
OMAiDYWMDAD.
OrthoDBiEOG7FR7FT.
PhylomeDBiQ8NA19.
TreeFamiTF316498.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR002515. Znf_C2HC.
[Graphical view]
PfamiPF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
PF01530. zf-C2HC. 1 hit.
[Graphical view]
SMARTiSM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti504 – 5041S → P in BAC04111 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti489 – 4891G → S.
Corresponds to variant rs12958879 [ dbSNP | Ensembl ].
VAR_060435
Natural varianti618 – 6181G → D.1 Publication
Corresponds to variant rs3737353 [ dbSNP | Ensembl ].
VAR_060436

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei482 – 53453VLVLH…PGVAD → GRVRWLMPVIPALWEAEAGR SRDQEIKTILANAVKPRLYQ KYKKLARRGGGCL in isoform 2. 1 PublicationVSP_033863Add
BLAST
Alternative sequencei535 – 62389Missing in isoform 2. 1 PublicationVSP_033864Add
BLAST

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

EnsembliENST00000284898; ENSP00000284898; ENSG00000154655. [Q8NA19-1]
ENST00000400104; ENSP00000382975; ENSG00000154655. [Q8NA19-2]
ENST00000400105; ENSP00000382976; ENSG00000154655. [Q8NA19-1]
GeneIDi91133.
KEGGihsa:91133.
UCSCiuc002kmz.4. human. [Q8NA19-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8NA19.
SMRiQ8NA19. Positions 51-364, 543-597.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124797. 2 interactions.
IntActiQ8NA19. 1 interaction.
STRINGi9606.ENSP00000284898.

Chemistry

BindingDBiQ8NA19.
ChEMBLiCHEMBL1287624.

PTM databases

PhosphoSiteiQ8NA19.

Polymorphism and mutation databases

BioMutaiL3MBTL4.
DMDMi296434577.

Proteomic databases

PaxDbiQ8NA19.
PRIDEiQ8NA19.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284898; ENSP00000284898; ENSG00000154655. [Q8NA19-1]
ENST00000400104; ENSP00000382975; ENSG00000154655. [Q8NA19-2]
ENST00000400105; ENSP00000382976; ENSG00000154655. [Q8NA19-1]
GeneIDi91133.
KEGGihsa:91133.
UCSCiuc002kmz.4. human. [Q8NA19-1]

Organism-specific databases

CTDi91133.
GeneCardsiL3MBTL4.
HGNCiHGNC:26677. L3MBTL4.
HPAiHPA064194.
neXtProtiNX_Q8NA19.
PharmGKBiPA134935795.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3766. Eukaryota.
ENOG410Y4AQ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231019.
HOVERGENiHBG071375.
InParanoidiQ8NA19.
OMAiDYWMDAD.
OrthoDBiEOG7FR7FT.
PhylomeDBiQ8NA19.
TreeFamiTF316498.

Miscellaneous databases

ChiTaRSiL3MBTL4. human.
GenomeRNAii91133.
NextBioi77112.
PROiQ8NA19.

Gene expression databases

BgeeiQ8NA19.
CleanExiHS_L3MBTL4.
ExpressionAtlasiQ8NA19. baseline and differential.
GenevisibleiQ8NA19. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR002515. Znf_C2HC.
[Graphical view]
PfamiPF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
PF01530. zf-C2HC. 1 hit.
[Graphical view]
SMARTiSM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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 ASP-618.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 2).
    Tissue: Testis.

Entry informationi

Entry nameiLMBL4_HUMAN
AccessioniPrimary (citable) accession number: Q8NA19
Secondary accession number(s): A8MTL8, Q8IXS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 18, 2010
Last modified: November 11, 2015
This is version 106 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.