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

    Gene ID: 10933, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 192.5), brain (RPKM 119.7) and 25 other tissues See more
    Orthologs
    mouse all
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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

    Clone Names

    • MGC10631

    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

    Gene LinkOut

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

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