L3MBTL1 - L3MBTL histone methyl-lysine binding protein 1 Gene

Also Known as L3MBTL; ZC2HC3; H-L(3)MBT; dJ138B7.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26013

About L3MBTL1

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:43,507,697-43,550,954 (from NCBI)

This gene has 33 transcripts (splice variants), 209 orthologues and 18 paralogues. Broad expression in testis (RPKM 4.3), brain (RPKM 2.6) and 23 other tissues.

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]

L3MBTL1 Products (9)

mRNA Protein Name
NM_001377303.1 NP_001364232.1 lethal(3)malignant brain tumor-like protein 1 isoform 3
NM_001377306.1 NP_001364235.1 lethal(3)malignant brain tumor-like protein 1 isoform 4
NM_001377307.1 NP_001364236.1 lethal(3)malignant brain tumor-like protein 1 isoform 5
NM_001377308.1 NP_001364237.1 lethal(3)malignant brain tumor-like protein 1 isoform 6
NM_001377309.1 NP_001364238.1 lethal(3)malignant brain tumor-like protein 1 isoform 7
NM_001377310.1 NP_001364239.1 lethal(3)malignant brain tumor-like protein 1 isoform 8
NM_001377311.1 NP_001364240.1 lethal(3)malignant brain tumor-like protein 1 isoform 9
NM_015478.7 NP_056293.4 lethal(3)malignant brain tumor-like protein 1 isoform 1
NM_032107.5 NP_115479.4 lethal(3)malignant brain tumor-like protein 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables SAM domain binding IPI
IPI: Inferred from physical interaction
12588862 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
18408754 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
17540172 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
12588862 GOA
enables methylated histone binding IDA
IDA: Inferred from direct assay
19144645 GOA
enables methylated histone binding IPI
IPI: Inferred from physical interaction
17540172 GOA
enables nucleosome binding IDA
IDA: Inferred from direct assay
17540172 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12588862 GOA
Biological Process GO Annotation Evidence References Source
involved in chromatin organization IDA
IDA: Inferred from direct assay
17540172 GOA
involved in hemopoiesis IEP
IEP: Inferred from expression pattern
15334543 GOA
involved in heterochromatin formation IDA
IDA: Inferred from direct assay
17540172 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17540172 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
12588862 GOA
involved in regulation of megakaryocyte differentiation IDA
IDA: Inferred from direct assay
18474616 GOA
involved in regulation of mitotic nuclear division IMP
IMP: Inferred from mutant phenotype
10445843 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
18408754 GOA
part of chromatin lock complex IPI
IPI: Inferred from physical interaction
17540172 GOA
located in condensed chromosome IDA
IDA: Inferred from direct assay
10445843 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
10445843 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
10445843 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10445843 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

L3MBTL1 Protein Structure

MBT

MBT: mbt repeat (310 - 382)

MBT

MBT: mbt repeat (417 - 486)

MBT

MBT: mbt repeat (521 - 590)

zf-C2HC

zf-C2HC: Zinc finger, C2HC type (620 - 649)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 840 a.a.
Protein Preferred Names Protein Names

lethal(3)malignant brain tumor-like protein 1

  • L3MBTL1, histone methyl-lysine binding protein

L3MBTL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
L3MBTL1 Q9Y468 H4C16 Homo sapiens P62805 17540172
Intra
L3MBTL1 Q9Y468 H1-4 Homo sapiens P10412 17540172
Intra
L3MBTL1 Q9Y468 H1-4 Homo sapiens P10412 17540172
Intra
L3MBTL1 Q9Y468 MCM5 Homo sapiens P33992 21149733
Intra
L3MBTL1 Q9Y468 MCM5 Homo sapiens P33992 21149733
Intra
L3MBTL1 Q9Y468 MCM2 Homo sapiens P49736 21149733
Intra
L3MBTL1 Q9Y468 MCM2 Homo sapiens P49736 33961781
Intra
L3MBTL1 Q9Y468 MCM2 Homo sapiens P49736 21149733
Intra
L3MBTL1 Q9Y468 H3C1 Homo sapiens P68431 16415788
Intra
L3MBTL1 Q9Y468 H3C1 Homo sapiens P68431 16415788
Cross: Cross-species interaction Intra: Intraspecies interaction

L3MBTL1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810022 L3MBTL Antibody (YA9366) WB, ICC/IF, IF-Tissue, IP, ELISA human

Related Diseases

Diseases Alias
Brain Cancer
  • Adult Brain Tumor

  • Malignant Neoplasm Of Brain

  • Brain Neoplasms

  • Brain Neoplasm

  • Neoplasm Of Brain

  • Primary Malignant Neoplasm Of Brain

  • Brain Tumors

  • Adult Malignant Brain Neoplasm

  • Brain Neoplasm, Adult

  • Bt - Brain Tumour

  • Malignant Brain Tumour

  • Malignant Primary Brain Neoplasm

  • Malignant Primary Brain Tumor

  • Malignant Tumor Of Adult Brain

  • Malignant Tumor Of Brain

  • Primary Brain Neoplasm

  • Primary Brain Tumor

  • Tumor Of The Brain

  • Brain Tumor, Adult

  • Brain Tumor Primary

  • Malignant Primary Brain Tumors

  • Primary Brain Tumors

  • Cancer, Brain

  • Brain Tumor, Primary

Bardet-Biedl Syndrome 2
  • BBS2

  • Bardet-Biedl Syndrome

  • Bardet-Biedl Syndrome, Type 2

  • Bbs

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus L3MBTL1 MGD MGI:2676663
Canis familiaris L3MBTL1 VGNC VGNC:54652
Rattus norvegicus L3MBTL1 RGD RGD:1307316
Others L3MBTL1 NCBI