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L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 [ Homo sapiens (human) ]

Gene ID: 26013, updated on 5-Sep-2021

Summary

Official Symbol
L3MBTL1provided by HGNC
Official Full Name
L3MBTL histone methyl-lysine binding protein 1provided by HGNC
Primary source
HGNC:HGNC:15905
See related
Ensembl:ENSG00000185513 Ensembl:ENSG00000288000 MIM:608802
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L3MBTL; ZC2HC3; H-L(3)MBT; dJ138B7.3
Summary
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Expression
Broad expression in testis (RPKM 4.3), brain (RPKM 2.6) and 23 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See L3MBTL1 in Genome Data Viewer
Location:
20q13.12
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (43507697..43550954)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42136337..42179594)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine and arginine rich splicing factor 6 Neighboring gene RNA, U6 small nuclear 1251, pseudogene Neighboring gene transmembrane protein 14C pseudogene Neighboring gene serum/glucocorticoid regulated kinase 2 Neighboring gene intraflagellar transport 52

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-08-29)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-08-29)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SGK2

Homology

Clone Names

  • FLJ41181, KIAA0681, DKFZp586P1522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SAM domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables methylated histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nucleosomal histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nucleosome binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed chromosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
lethal(3)malignant brain tumor-like protein 1
Names
L3MBTL1, histone methyl-lysine binding protein
l(3)mbt protein homolog
l(3)mbt-like 1
lethal (3) malignant brain tumor l(3)

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009238.3 RefSeqGene

    Range
    5018..48275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1049

mRNA and Protein(s)

  1. NM_001377303.1NP_001364232.1  lethal(3)malignant brain tumor-like protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENSP00000398516.2, ENST00000418998.7
    Conserved Domains (4) summary
    smart00561
    Location:407503
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    PRK07764
    Location:27188
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam01530
    Location:643671
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:770798
    SAM_superfamily; SAM (Sterile alpha motif )
  2. NM_001377306.1NP_001364235.1  lethal(3)malignant brain tumor-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENSP00000497566.1, ENST00000649917.1
    Conserved Domains (4) summary
    smart00561
    Location:407503
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    PRK07764
    Location:27188
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam01530
    Location:643671
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:770814
    SAM_superfamily; SAM (Sterile alpha motif )
  3. NM_001377307.1NP_001364236.1  lethal(3)malignant brain tumor-like protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Conserved Domains (3) summary
    cd09582
    Location:685750
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:317413
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:558586
    zf-C2HC; Zinc finger, C2HC type
  4. NM_001377308.1NP_001364237.1  lethal(3)malignant brain tumor-like protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENSP00000410139.2, ENST00000422861.3
    Conserved Domains (3) summary
    cd09582
    Location:680745
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:317413
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:553581
    zf-C2HC; Zinc finger, C2HC type
  5. NM_001377309.1NP_001364238.1  lethal(3)malignant brain tumor-like protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL031681, BC034398, Z98752
    Related
    ENSP00000362226.1, ENST00000373134.5
  6. NM_001377310.1NP_001364239.1  lethal(3)malignant brain tumor-like protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Conserved Domains (3) summary
    smart00561
    Location:317413
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:553581
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:680708
    SAM_superfamily; SAM (Sterile alpha motif )
  7. NM_001377311.1NP_001364240.1  lethal(3)malignant brain tumor-like protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Conserved Domains (3) summary
    cd09582
    Location:640705
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:277373
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:513541
    zf-C2HC; Zinc finger, C2HC type
  8. NM_015478.7NP_056293.4  lethal(3)malignant brain tumor-like protein 1 isoform I

    See identical proteins and their annotated locations for NP_056293.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (I) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant II. The encoded isoform (I) is shorter than isoform II.
    Source sequence(s)
    AK310345, BC039820, BG956397, BU741824
    Consensus CDS
    CCDS13319.1
    UniProtKB/Swiss-Prot
    Q9Y468
    Related
    ENSP00000362227.3, ENST00000373135.8
    Conserved Domains (3) summary
    smart00561
    Location:317413
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:553579
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:680708
    SAM_superfamily; SAM (Sterile alpha motif )
  9. NM_032107.5NP_115479.4  lethal(3)malignant brain tumor-like protein 1 isoform II

    Status: REVIEWED

    Description
    Transcript Variant: This variant (II) represents the longer transcript and encodes the longer isoform (II).
    Source sequence(s)
    AK299199, BC039820, BG956397, BU741824, DR003568
    Consensus CDS
    CCDS46602.2
    UniProtKB/Swiss-Prot
    Q9Y468
    Related
    ENSP00000402107.4, ENST00000427442.8
    Conserved Domains (4) summary
    smart00561
    Location:385481
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:621649
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:748776
    SAM_superfamily; SAM (Sterile alpha motif )
    cl26386
    Location:5166
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RNA

  1. NR_165189.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENST00000657241.1
  2. NR_165190.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENST00000648570.1
  3. NR_165191.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
  4. NR_165192.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
  5. NR_165193.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
  6. NR_165194.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
    Related
    ENST00000649501.1
  7. NR_165195.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752
  8. NR_165196.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL031681, Z98752

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    43507697..43550954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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