Q8NA19 (LMBL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

L3MBTL4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	623 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
Subcellular location	Nucleus Potential.
Sequence similarities	Contains 3 MBT repeats. Contains 1 SAM (sterile alpha motif) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Molecular function	Chromatin regulator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q8NA19-1)

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: Q8NA19-2)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 623	623	Lethal(3)malignant brain tumor-like protein 4		PRO_0000337077
Regions
	Repeat	52 – 152	101	MBT 1
	Repeat	160 – 260	101	MBT 2
	Repeat	269 – 364	96	MBT 3
	Domain	543 – 607	65	SAM
Natural variations
	Alternative sequence	482 – 534	53	VLVLH…PGVAD → GRVRWLMPVIPALWEAEAGR SRDQEIKTILANAVKPRLYQ KYKKLARRGGGCL in isoform 2.		VSP_033863
	Alternative sequence	535 – 623	89	Missing in isoform 2.		VSP_033864
	Natural variant	489	1	G → S. Corresponds to variant rs12958879 [ dbSNP | Ensembl ].		VAR_060435
	Natural variant	618	1	G → D. Ref.1 Corresponds to variant rs3737353 [ dbSNP | Ensembl ].		VAR_060436
Experimental info
	Sequence conflict	504	1	S → P in BAC04111. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: CBD7FC6004599B10	FASTA	623	71,122
	10 20 30 40 50 60 MKQPNRKRKL NMDSKERLDQ DGRLEQAEEE KKPKDSTTPL SHVPSAAAQG AWSWEWYLKE 70 80 90 100 110 120 QKAVAAPVEL FSKDQSFPEH ENGFQIGMRL EGIDPRHPSV FCVLSVAEVC GYRLRLHFDG 130 140 150 160 170 180 YLSCYDFWTN AGSPDIHPVG WCEKTKHELH IPKGYRKDKF VWMDYLKACK LQNAPKKLFR 190 200 210 220 230 240 NRSPNGPMSK EFQVGMKLEA VDRKNPSLVC VATIADIVED RLLVHFDNWD DSYDYWCDVN 250 260 270 280 290 300 SPYVQPVGWC QENGRTLIAP QGYPNPENFS WTEYLEATQT NAVPAKVFKM RLPHGFLPNM 310 320 330 340 350 360 KLEVVDKRNP RLIRVATIVD VDDQRVKVHF DGWDHKYDYW VEADSPDIHP IGWCDVTGHP 370 380 390 400 410 420 LEVPQRTNDL KILPGQAVCP TPGCRGIGHI RGPRYSGHHS AFGCPYSDMN LKKEATLHDR 430 440 450 460 470 480 LREQTQANLE SDSSHSKSKS LCSLNFNGKH EKVNSQPRLV QQAKCLKIKG KEDIDLDNLF 490 500 510 520 530 540 RVLVLHPRGL EYSVEQAQQV LHQSVSMSTV SAHPFRDLPL GREQHCKLLP GVADIRASQV 550 560 570 580 590 600 ARWTVDEVAE FVQSLLGCEE HAKCFKKEQI DGKAFLLLTQ TDIVKVMKIK LGPALKIYNS 610 620 ILMFRHSQEL PEEDIASGQE VRG
	Isoform 2 [UniParc]. Checksum: A84D557682793483	FASTA	534	61,256
	10 20 30 40 50 60 MKQPNRKRKL NMDSKERLDQ DGRLEQAEEE KKPKDSTTPL SHVPSAAAQG AWSWEWYLKE 70 80 90 100 110 120 QKAVAAPVEL FSKDQSFPEH ENGFQIGMRL EGIDPRHPSV FCVLSVAEVC GYRLRLHFDG 130 140 150 160 170 180 YLSCYDFWTN AGSPDIHPVG WCEKTKHELH IPKGYRKDKF VWMDYLKACK LQNAPKKLFR 190 200 210 220 230 240 NRSPNGPMSK EFQVGMKLEA VDRKNPSLVC VATIADIVED RLLVHFDNWD DSYDYWCDVN 250 260 270 280 290 300 SPYVQPVGWC QENGRTLIAP QGYPNPENFS WTEYLEATQT NAVPAKVFKM RLPHGFLPNM 310 320 330 340 350 360 KLEVVDKRNP RLIRVATIVD VDDQRVKVHF DGWDHKYDYW VEADSPDIHP IGWCDVTGHP 370 380 390 400 410 420 LEVPQRTNDL KILPGQAVCP TPGCRGIGHI RGPRYSGHHS AFGCPYSDMN LKKEATLHDR 430 440 450 460 470 480 LREQTQANLE SDSSHSKSKS LCSLNFNGKH EKVNSQPRLV QQAKCLKIKG KEDIDLDNLF 490 500 510 520 530 RGRVRWLMPV IPALWEAEAG RSRDQEIKTI LANAVKPRLY QKYKKLARRG GGCL

References

[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-618. Tissue: Testis.
[2]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00300393. IPI00473138.
RefSeq	NP_775735.2. NM_173464.3.
UniGene	Hs.128279.
3D structure databases
HSSP	HSSP built from PDB template 1WJS based on UniProtKB Q96JM7.
ProteinModelPortal	Q8NA19.
SMR	Q8NA19. Positions 52-413, 536-604.
ModBase	Search...
PTM databases
PhosphoSite	Q8NA19.
Polymorphism databases
DMDM	296434577.
Proteomic databases
PRIDE	Q8NA19.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284898; ENSP00000284898; ENSG00000154655. ENST00000400105; ENSP00000382976; ENSG00000154655.
GeneID	91133.
KEGG	hsa:91133.
UCSC	uc002kmz.2. human.
Organism-specific databases
CTD	91133.
GeneCards	GC18M005946.
HGNC	HGNC:26677. L3MBTL4.
neXtProt	NX_Q8NA19.
PharmGKB	PA134935795.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19181.
GeneTree	ENSGT00560000076796.
HOGENOM	HBG444467.
HOVERGEN	HBG071375.
InParanoid	Q8NA19.
OMA	PQGYPDP.
OrthoDB	EOG41VK2D.
PhylomeDB	Q8NA19.
Gene expression databases
ArrayExpress	Q8NA19.
Bgee	Q8NA19.
CleanEx	HS_L3MBTL4.
Genevestigator	Q8NA19.
Family and domain databases
InterPro	IPR004092. Mbt. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. IPR002515. Znf_C2HC. [Graphical view]
Gene3D	G3DSA:1.10.150.50. SAM_type. 1 hit.
Pfam	PF02820. MBT. 3 hits. PF00536. SAM_1. 1 hit. PF01530. zf-C2HC. 1 hit. [Graphical view]
SMART	SM00561. MBT. 3 hits. SM00454. SAM. 1 hit. [Graphical view]
SUPFAM	SSF47769. SAM_homology. 1 hit.
PROSITE	PS51079. MBT. 3 hits. PS50105. SAM_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	77112.

Entry information

Entry name

LMBL4_HUMAN

Accession

Primary (citable) accession number: Q8NA19
Secondary accession number(s): A8MTL8, Q8IXS3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 18, 2010
Last modified:	December 14, 2011
This is version 71 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.