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MORF4L1 mortality factor 4 like 1 [ Homo sapiens (human) ]

Gene ID: 10933, updated on 26-Nov-2024

Summary

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Official Symbol
MORF4L1provided by HGNC
Official Full Name
mortality factor 4 like 1provided by HGNC
Primary source
HGNC:HGNC:16989
See related
Ensembl:ENSG00000185787 MIM:607303; AllianceGenome:HGNC:16989
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
Eaf3; MEAF3; MRG15; FWP006; S863-6; HsT17725; MORFRG15
Summary
Predicted to enable chromatin binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Located in nuclear speck. Part of NuA4 histone acetyltransferase complex; Sin3-type complex; and nucleosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 192.5), brain (RPKM 119.7) and 25 other tissues See more
Orthologs
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Genomic context

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See MORF4L1 in Genome Data Viewer
Location:
15q25.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78872890..78898139)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76736571..76761812)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79165232..79190481)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903535 Neighboring gene tRNA-Lys (anticodon CTT) 1-2 Neighboring gene ribosomal protein L21 pseudogene 116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6718 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79165819-79166450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79168309-79168910 Neighboring gene RNA, U6 small nuclear 415, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9923 Neighboring gene cathepsin H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9927 Neighboring gene Sharpr-MPRA regulatory region 2017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79237120-79237658

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families. Rio Frio T, et al. J Hum Genet, 2010 Dec. PMID 20844547
  2. Sequence requirements for combinatorial recognition of histone H3 by the MRG15 and Pf1 subunits of the Rpd3S/Sin3S corepressor complex. Kumar GS, et al. J Mol Biol, 2012 Sep 28. PMID 22728643, Free PMC Article
  3. Structural Insights into Stimulation of Ash1L's H3K36 Methyltransferase Activity through Mrg15 Binding. Hou P, et al. Structure, 2019 May 7. PMID 30827843
  4. MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes. Al-Harthi S, et al. Structure, 2023 Oct 5. PMID 37527654
  5. The MRG domain of human MRG15 uses a shallow hydrophobic pocket to interact with the N-terminal region of PAM14. Zhang P, et al. Protein Sci, 2006 Oct. PMID 17008723, Free PMC Article

See all (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes.
    Title: MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes.
  2. MRG15 aggravates non-alcoholic steatohepatitis progression by regulating the mitochondrial proteolytic degradation of TUFM.
    Title: MRG15 aggravates non-alcoholic steatohepatitis progression by regulating the mitochondrial proteolytic degradation of TUFM.
  3. Structural Insight into the Mechanism of PALB2 Interaction with MRG15.
    Title: Structural Insight into the Mechanism of PALB2 Interaction with MRG15.
  4. Ash1L stimulates H3K36 methyltransferase activity through Mrg15 binding
    Title: Structural Insights into Stimulation of Ash1L's H3K36 Methyltransferase Activity through Mrg15 Binding.
  5. ASH1L activation by MRG15 represents a delicate regulatory mechanism for how a cofactor activates an SET domain HMTase by releasing autoinhibition
    Title: Structural Basis of MRG15-Mediated Activation of the ASH1L Histone Methyltransferase by Releasing an Autoinhibitory Loop.
  6. PALB2 associates with active genes through its major binding partner, MRG15, which recognizes histone H3 trimethylated at lysine 36 (H3K36me3) by the SETD2 methyltransferase
    Title: MRG15-mediated tethering of PALB2 to unperturbed chromatin protects active genes from genotoxic stress.
  7. Both MRG15 CD and Pf1 PHD1 bind to their targets with >100 muM affinity.
    Title: Sequence requirements for combinatorial recognition of histone H3 by the MRG15 and Pf1 subunits of the Rpd3S/Sin3S corepressor complex.
  8. While the present study expands on the role of MRG15 in the control of genomic stability, weak associations can not be ruled out for potential low-penetrance variants at MORF4L1 and breast cancer risk among BRCA2 mutation carriers
    Title: Exploring the link between MORF4L1 and risk of breast cancer.
  9. it seems unlikely that any constitutional changes in MRG15 confer an increased risk for breast cancer.
    Title: Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families.
  10. gene deficiency reduces DNA repair and increase sensitivity to DNA-crosslinking agents
    Title: MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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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 chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Sin3-type complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mortality factor 4-like protein 1
Names
Esa1p-associated factor 3 homolog
MORF-related gene 15 protein
MORF-related gene on chromosome 15
protein MSL3-1
transcription factor-like protein MRG15

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_001265603.2 → NP_001252532.1  mortality factor 4-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001252532.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two consecutive internal exons and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC011944, AY148481, BG771854, BM996530, CX165647
    Consensus CDS
    CCDS58393.1
    UniProtKB/TrEMBL
    Q0VAE4
    Related
    ENSP00000452808.1, ENST00000558502.5
    Conserved Domains (1) summary
    pfam05712
    Location:57 → 224
    MRG

  2. NM_001265604.2 → NP_001252533.1  mortality factor 4-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001252533.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC011944, AC103975, AK300789, AY148481, BM996530, DB455429
    Consensus CDS
    CCDS58393.1
    UniProtKB/TrEMBL
    Q0VAE4
    Related
    ENSP00000452717.1, ENST00000559345.5
    Conserved Domains (1) summary
    pfam05712
    Location:57 → 224
    MRG

  3. NM_001265605.2 → NP_001252534.1  mortality factor 4-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001252534.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode the same isoform (3), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC011944, AC103975, AY148481, BM996530, BX382045, DB455429
    Consensus CDS
    CCDS58393.1
    UniProtKB/TrEMBL
    Q0VAE4
    Conserved Domains (1) summary
    pfam05712
    Location:57 → 224
    MRG

  4. NM_006791.4 → NP_006782.1  mortality factor 4-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_006782.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC011944, AF100615, BM996530
    Consensus CDS
    CCDS32304.1
    UniProtKB/TrEMBL
    A5D8W6
    Related
    ENSP00000408880.2, ENST00000426013.7
    Conserved Domains (2) summary
    cd18983
    Location:15 → 71
    CBD_MSL3_like; chromo barrel domain of human male-specific lethal complex subunit 3, and similar proteins
    pfam05712
    Location:145 → 312
    MRG

  5. NM_206839.3 → NP_996670.1  mortality factor 4-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_996670.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AC011944, AY148481, BM996530
    Consensus CDS
    CCDS10307.1
    UniProtKB/Swiss-Prot
    B4DKN6, B7Z6R1, D3DW88, O95899, Q5QTS1, Q6NVX8, Q86YT7, Q9HBP6, Q9NSW5, Q9UBU8
    UniProtKB/TrEMBL
    A5D8W6
    Related
    ENSP00000331310.5, ENST00000331268.9
    Conserved Domains (2) summary
    cd18983
    Location:15 → 110
    CBD_MSL3_like; chromo barrel domain of human male-specific lethal complex subunit 3, and similar proteins
    pfam05712
    Location:184 → 351
    MRG

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    78872890..78898139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    76736571..76761812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBU8.2 GenPept UniProtKB/Swiss-Prot:Q9UBU8

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