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

Summary

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Structural Insight into the Mechanism of PALB2 Interaction with MRG15.
Title: Structural Insight into the Mechanism of PALB2 Interaction with MRG15.
Ash1L stimulates H3K36 methyltransferase activity through Mrg15 binding
Title: Structural Insights into Stimulation of Ash1L's H3K36 Methyltransferase Activity through Mrg15 Binding.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

D15S688E (e-PCR)
- UniSTS:151598

NoName (e-PCR)
- UniSTS:485783

RH79797 (e-PCR)
- UniSTS:85720

PMC116076P1 (e-PCR)
- UniSTS:270308

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)

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
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
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
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
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