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Aliases for MARF1 Gene

Aliases for MARF1 Gene

  • Meiosis Regulator And MRNA Stability Factor 1 2 3 5
  • KIAA0430 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
  • LKAP 3 4
  • Limkain B1 2
  • PPP1R34 3
  • LMKB 3

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.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MARF1 Gene

Genomics for MARF1 Gene

Regulatory Elements for MARF1 Gene

Enhancers for MARF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H015519 1.6 FANTOM5 Ensembl ENCODE 32 +121.2 121231 4.5 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A TCF12 SLC30A9 ZNF766 GATA2 C16orf45 MARF1 NDE1 NPIPA2 LOC105371102 PIR54531
GH16H015670 2 FANTOM5 Ensembl ENCODE dbSUPER 19.7 -29.8 -29773 4.5 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000263335 NDE1 MARF1 ABCC1 RRN3 ENSG00000277920 C16orf45 GC16M015668 GC16P015657
GH16H015681 1.5 Ensembl ENCODE dbSUPER 13 -39.1 -39145 1.8 FOXA2 ARNT ARID4B DMAP1 ZNF143 FOS ATF7 REST ZNF592 KAT8 ENSG00000263335 MARF1 NDE1 LOC100505915 ENSG00000207425 PKD1P1 ENSG00000183458 ENSG00000262380 GC16M015668
GH16H015588 2.1 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +51.8 51844 5.4 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 MEF2D ZNF610 PARN ENSG00000263335 BFAR LOC100505915 RRN3 ABCC1 PKD1P6 ENSG00000262171 ENSG00000241067 ENSG00000263029
GH16H015675 0.6 FANTOM5 dbSUPER 13.8 -32.7 -32721 0.1 NDE1 MARF1 GC16M015668 GC16P015657
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MARF1 on UCSC Golden Path with GeneCards custom track

Promoters for MARF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000083834 166 2001 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF766

Genomic Locations for MARF1 Gene

Genomic Locations for MARF1 Gene
chr16:15,594,369-15,643,166
(GRCh38/hg38)
Size:
48,798 bases
Orientation:
Minus strand
chr16:15,688,226-15,737,023
(GRCh37/hg19)

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};

    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MARF1: view

No data available for 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).

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 --
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

miRNA for MARF1 Gene

miRTarBase miRNAs that target MARF1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
nucleus 3
cytosol 3

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:0005777 peroxisome IEA,IDA 15932519
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MARF1: view

Pathways & Interactions for MARF1 Gene

SuperPathways for MARF1 Gene

No Data Available

Interacting Proteins for MARF1 Gene

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 division ISS --
GO:0010468 regulation of gene expression IEA,ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0030154 cell differentiation IEA --
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

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for MARF1 Gene

GeneLoc Exon Structure for
MARF1
ECgene alternative splicing isoforms for
MARF1

Expression for MARF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MARF1 Gene:

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 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia KIAA0430 33 34
  • 90.97 (n)
cow
(Bos Taurus)
Mammalia MARF1 33 34
  • 89.04 (n)
mouse
(Mus musculus)
Mammalia Marf1 33 16 34
  • 85.22 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA0430 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0430 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0430 33 34
  • 76.35 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0430 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0430 33
  • 68.79 (n)
Str.4610 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4930 33
zebrafish
(Danio rerio)
Actinopterygii Dr.10364 33
fruit fly
(Drosophila melanogaster)
Insecta CG17018 34
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for MARF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MARF1 Gene

No data available for Paralogs for MARF1 Gene

Variants for MARF1 Gene

Sequence variations from dbSNP and Humsavar for MARF1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs77774475 Likely benign 15,643,548(+) TTTCA(A/G)TGAAA downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs79063947 Likely benign 15,643,529(+) GAAGG(C/G/T)GATTT downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs886051712 Likely benign 15,643,558(+) AAACC(-/C)TGTCC downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs138559781 Uncertain significance 15,643,740(+) CGCAA(A/G)GTTGC downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs187630586 Uncertain significance 15,643,558(+) AAACC(A/C)TGTCC downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

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

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

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)

Relevant External Links 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 for MARF1 Gene

Disorders for MARF1 Gene

Relevant External Links for MARF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARF1

No disorders were found for MARF1 Gene.

No data available for MalaCards , 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 22 60
  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 60
  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 60
  4. 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 60
  5. MARF1 regulates essential oogenic processes in mice. (PMID: 22442484) Su YQ … Eppig JJ (Science (New York, N.Y.) 2012) 2 3 60

Products for MARF1 Gene

Sources for MARF1 Gene

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