This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010] See more...

Aliases for MARF1 Gene

Aliases for MARF1 Gene

  • Meiosis Regulator And MRNA Stability Factor 1 2 3 4 5
  • KIAA0430 2 3 4
  • LKAP 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 34 2 3
  • Meiosis Arrest Female Protein 1 3 4
  • Meiosis Arrest Female 1 2 3
  • Limkain-B1 3 4
  • PPP1R34 2 3
  • LMKB 2 3
  • Limkain B1 2
  • MARF1 5

External Ids for MARF1 Gene

Previous HGNC Symbols for MARF1 Gene

  • KIAA0430

Summaries for MARF1 Gene

Entrez Gene Summary for MARF1 Gene

  • This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]

GeneCards Summary for MARF1 Gene

MARF1 (Meiosis Regulator And MRNA Stability Factor 1) is a Protein Coding gene. Diseases associated with MARF1 include Corneal Dystrophy, Avellino Type.

UniProtKB/Swiss-Prot Summary for MARF1 Gene

  • Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity).

Gene Wiki entry for MARF1 Gene

Additional gene information for MARF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARF1 Gene

Genomics for MARF1 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around MARF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARF1

Genomic Locations for MARF1 Gene

Genomic Locations for MARF1 Gene
chr16:15,594,387-15,643,166
(GRCh38/hg38)
Size:
48,780 bases
Orientation:
Minus strand
chr16:15,688,226-15,737,023
(GRCh37/hg19)
Size:
48,798 bases
Orientation:
Minus strand

Genomic View for MARF1 Gene

Genes around MARF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARF1 Gene

Proteins for MARF1 Gene

  • Protein details for MARF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4F3-MARF1_HUMAN
    Recommended name:
    Meiosis regulator and mRNA stability factor 1
    Protein Accession:
    Q9Y4F3
    Secondary Accessions:
    • A8MSK2
    • B2RNX2
    • B4DYY9
    • B7ZMG1
    • B7ZMG2
    • F8VV09
    • Q6P1R6
    • Q8WYR2
    • Q9Y4J9

    Protein attributes for MARF1 Gene

    Size:
    1742 amino acids
    Molecular mass:
    192859 Da
    Quaternary structure:
    • Interacts with LIMK2.
    SequenceCaution:
    • Sequence=AAC31662.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH64914.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=EAW53920.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May be due to an intron retention.

    Three dimensional structures from OCA and Proteopedia for MARF1 Gene

    Alternative splice isoforms for MARF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARF1 Gene

Post-translational modifications for MARF1 Gene

  • Ubiquitination at Lys189, Lys277, Lys318, Lys542, and Lys585
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MARF1 Gene

Domains & Families for MARF1 Gene

Gene Families for MARF1 Gene

Suggested Antigen Peptide Sequences for MARF1 Gene

GenScript: Design optimal peptide antigens:
  • Limkain-b1 (LKAP_HUMAN)
genes like me logo Genes that share domains with MARF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MARF1 Gene

Function for MARF1 Gene

Molecular function for MARF1 Gene

UniProtKB/Swiss-Prot Function:
Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity).

Phenotypes From GWAS Catalog for MARF1 Gene

Gene Ontology (GO) - Molecular Function for MARF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:1903231 mRNA binding involved in posttranscriptional gene silencing IBA 21873635
GO:1905762 CCR4-NOT complex binding IBA 21873635
genes like me logo Genes that share ontologies with MARF1: view
genes like me logo Genes that share phenotypes with MARF1: view

Animal Model Products

CRISPR Products

miRNA for MARF1 Gene

miRTarBase miRNAs that target MARF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MARF1 Gene

Localization for MARF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARF1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARF1 gene
Compartment Confidence
peroxisome 5
golgi apparatus 4
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005777 peroxisome IEA,IDA 15932519
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane HDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MARF1: view

Pathways & Interactions for MARF1 Gene

PathCards logo

SuperPathways for MARF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MARF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006302 double-strand break repair IEA --
GO:0007143 female meiotic nuclear division ISS --
GO:0010468 regulation of gene expression IEA,ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0016441 posttranscriptional gene silencing IBA 21873635
genes like me logo Genes that share ontologies with MARF1: view

No data available for Pathways by source and SIGNOR curated interactions for MARF1 Gene

Drugs & Compounds for MARF1 Gene

No Compound Related Data Available

Transcripts for MARF1 Gene

mRNA/cDNA for MARF1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARF1

Alternative Splicing Database (ASD) splice patterns (SP) for MARF1 Gene

No ASD Table

Relevant External Links for MARF1 Gene

GeneLoc Exon Structure for
MARF1

Expression for MARF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARF1

Evidence on tissue expression from TISSUES for MARF1 Gene

  • Nervous system(4.8)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARF1 Gene

Orthologs for MARF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA0430 30 31
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0430 30 31
  • 90.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MARF1 30 31
  • 89.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Marf1 30 17 31
  • 85.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA0430 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0430 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0430 30 31
  • 76.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0430 31
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0430 30
  • 68.79 (n)
Str.4610 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4930 30
Zebrafish
(Danio rerio)
Actinopterygii Dr.10364 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17018 31
  • 23 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToOne
Species where no ortholog for MARF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MARF1 Gene

ENSEMBL:
Gene Tree for MARF1 (if available)
TreeFam:
Gene Tree for MARF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARF1: view image

Paralogs for MARF1 Gene

No data available for Paralogs for MARF1 Gene

Variants for MARF1 Gene

Additional dbSNP identifiers (rs#s) for MARF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARF1 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
esv2714015 CNV deletion 23290073
esv3582041 CNV loss 25503493
esv3638034 CNV gain 21293372
esv3638036 CNV gain 21293372
esv3638038 CNV gain 21293372
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1125134 CNV deletion 24896259
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv469626 CNV loss 16826518
nsv819327 CNV loss 19587683
nsv833147 CNV loss 17160897

Variation tolerance for MARF1 Gene

Residual Variation Intolerance Score: 0.904% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARF1 Gene

Human Gene Mutation Database (HGMD)
MARF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARF1 Gene

Disorders for MARF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MARF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, avellino type
  • cda
- elite association - COSMIC cancer census association via MalaCards
Search MARF1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MARF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARF1 Gene

Publications for MARF1 Gene

  1. Limkain b1, a novel human autoantigen localized to a subset of ABCD3 and PXF marked peroxisomes. (PMID: 15932519) Dunster K … Sentry JW (Clinical and experimental immunology 2005) 2 3 4 23
  2. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  4. MARF1 regulates essential oogenic processes in mice. (PMID: 22442484) Su YQ … Eppig JJ (Science (New York, N.Y.) 2012) 2 3
  5. Meiosis arrest female 1 (MARF1) has nuage-like function in mammalian oocytes. (PMID: 23090997) Su YQ … Eppig JJ (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3

Products for MARF1 Gene

Sources for MARF1 Gene