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L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 [ Homo sapiens (human) ]

Gene ID: 91133, updated on 7-Jun-2020

Summary

Official Symbol
L3MBTL4provided by HGNC
Official Full Name
L3MBTL histone methyl-lysine binding protein 4provided by HGNC
Primary source
HGNC:HGNC:26677
See related
Ensembl:ENSG00000154655 MIM:617135
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HsT1031
Expression
Broad expression in testis (RPKM 2.4), ovary (RPKM 1.3) and 24 other tissues See more
Orthologs

Genomic context

See L3MBTL4 in Genome Data Viewer
Location:
18p11.31
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (5954703..6415259, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (5954705..6414910, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene microRNA 3976 Neighboring gene transmembrane protein 200C Neighboring gene RNA, U5F small nuclear 3, pseudogene Neighboring gene L3MBTL4 antisense RNA 1 Neighboring gene microRNA 4317 Neighboring gene RNA, U6 small nuclear 349, pseudogene Neighboring gene ribosomal protein L6 pseudogene 27

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

NHGRI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia.
NHGRI GWA Catalog
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
lethal(3)malignant brain tumor-like protein 4
Names
H-l(3)mbt-like protein 4
L3MBTL4, histone methyl-lysine binding protein

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001330559.2NP_001317488.1  lethal(3)malignant brain tumor-like protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228, CA313345
    Consensus CDS
    CCDS82238.1
    UniProtKB/TrEMBL
    F8W9S8
    Related
    ENSP00000318543.7, ENST00000317931.11
    Conserved Domains (3) summary
    cd09582
    Location:531596
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  2. NM_001365765.1NP_001352694.1  lethal(3)malignant brain tumor-like protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
    Conserved Domains (3) summary
    cd09582
    Location:531596
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  3. NM_001365766.2NP_001352695.1  lethal(3)malignant brain tumor-like protein 4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  4. NM_001365767.2NP_001352696.1  lethal(3)malignant brain tumor-like protein 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AP001021, AP005060, BC039316
    Related
    ENSP00000382975.3, ENST00000400104.7
    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  5. NM_001365768.1NP_001352697.1  lethal(3)malignant brain tumor-like protein 4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  6. NM_001365769.1NP_001352698.1  lethal(3)malignant brain tumor-like protein 4 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  7. NM_001365770.1NP_001352699.1  lethal(3)malignant brain tumor-like protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AK093255, AP001021
    Related
    ENSP00000382976.2, ENST00000400105.6
    Conserved Domains (3) summary
    cd09582
    Location:540605
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type
  8. NM_173464.3NP_775735.2  lethal(3)malignant brain tumor-like protein 4 isoform 1

    See identical proteins and their annotated locations for NP_775735.2

    Status: VALIDATED

    Source sequence(s)
    AK026733, AK093255, CA313345, DB455331
    Consensus CDS
    CCDS11839.2
    UniProtKB/Swiss-Prot
    Q8NA19
    Conserved Domains (3) summary
    cd09582
    Location:540605
    SAM_Scm-like-3MBT3,4; SAM domain of Scm-like-3MBT3,4 proteins of Polycomb group
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379407
    zf-C2HC; Zinc finger, C2HC type

RNA

  1. NR_158609.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
  2. NR_158610.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228
  3. NR_158611.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000874, AP001021, AP005060, AP005228

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    5954703..6415259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026074.1XP_016881563.1  lethal(3)malignant brain tumor-like protein 4 isoform X4

  2. XM_011525760.1XP_011524062.1  lethal(3)malignant brain tumor-like protein 4 isoform X2

    Conserved Domains (3) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:531560
    SAM_superfamily; SAM (Sterile alpha motif )
  3. XM_011525757.1XP_011524059.1  lethal(3)malignant brain tumor-like protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011524059.1

    Conserved Domains (3) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:540569
    SAM_superfamily; SAM (Sterile alpha motif )
  4. XM_011525759.1XP_011524061.1  lethal(3)malignant brain tumor-like protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011524061.1

    Conserved Domains (3) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:540569
    SAM_superfamily; SAM (Sterile alpha motif )
  5. XM_011525758.1XP_011524060.1  lethal(3)malignant brain tumor-like protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011524060.1

    Conserved Domains (3) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:540569
    SAM_superfamily; SAM (Sterile alpha motif )
  6. XM_011525767.2XP_011524069.1  lethal(3)malignant brain tumor-like protein 4 isoform X11

    Conserved Domains (3) summary
    smart00561
    Location:175
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:90116
    zf-C2HC; Zinc finger, C2HC type
    cl15755
    Location:251280
    SAM_superfamily; SAM (Sterile alpha motif )
  7. XM_011525762.2XP_011524064.1  lethal(3)malignant brain tumor-like protein 4 isoform X5

    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
  8. XM_006722364.2XP_006722427.1  lethal(3)malignant brain tumor-like protein 4 isoform X9

    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
  9. XM_011525763.2XP_011524065.1  lethal(3)malignant brain tumor-like protein 4 isoform X6

    Conserved Domains (2) summary
    smart00561
    Location:273364
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam01530
    Location:379405
    zf-C2HC; Zinc finger, C2HC type
  10. XM_017026077.1XP_016881566.1  lethal(3)malignant brain tumor-like protein 4 isoform X10

RNA

  1. XR_935072.1 RNA Sequence

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