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MBD3L5 methyl-CpG binding domain protein 3 like 5 [ Homo sapiens (human) ]

Gene ID: 284428, updated on 7-Apr-2025

Summary

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Official Symbol
MBD3L5provided by HGNC
Official Full Name
methyl-CpG binding domain protein 3 like 5provided by HGNC
Primary source
HGNC:HGNC:37204
See related
Ensembl:ENSG00000237247 AllianceGenome:HGNC:37204
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
Summary
Predicted to enable methyl-CpG binding activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See MBD3L5 in Genome Data Viewer
Location:
19p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7030578..7033011)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7020866..7023300)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7030589..7033022)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268245 Neighboring gene methyl-CpG binding domain protein 3 like 2B Neighboring gene methyl-CpG binding domain protein 3 like 4 Neighboring gene methyl-CpG binding domain protein 3 like 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
  2. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables methyl-CpG binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in DNA methylation-dependent constitutive heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
putative methyl-CpG-binding domain protein 3-like 5
Names
MBD3-like protein 5

NCBI Reference Sequences (RefSeq)

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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_001136507.2 → NP_001129979.1  putative methyl-CpG-binding domain protein 3-like 5

    See identical proteins and their annotated locations for NP_001129979.1

    Status: VALIDATED

    Source sequence(s)
    AC010606
    Consensus CDS
    CCDS45942.1
    UniProtKB/Swiss-Prot
    A6NJ08
    Related
    ENSP00000331435.4, ENST00000329753.5
    Conserved Domains (2) summary
    pfam14048
    Location:103 → 193
    MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
    pfam16564
    Location:48 → 97
    MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    7030578..7033011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7020866..7023300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NJ08.1 GenPept UniProtKB/Swiss-Prot:A6NJ08

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials