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Aliases for KIAA0430 Gene

Aliases for KIAA0430 Gene

  • KIAA0430 2 3
  • Meiosis Arrest Female 1 2 3
  • Limkain B1 2 3
  • Limkain-B1 3 4
  • MARF1 3 4
  • LKAP 3 4
  • Protein Phosphatase 1, Regulatory Subunit 34 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 34 2
  • PPP1R34 3

External Ids for KIAA0430 Gene

Previous GeneCards Identifiers for KIAA0430 Gene

  • GC16M015083

Summaries for KIAA0430 Gene

Entrez Gene Summary for KIAA0430 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 KIAA0430 Gene

KIAA0430 (KIAA0430) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for KIAA0430 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 KIAA0430 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0430 Gene

Genomics for KIAA0430 Gene

Regulatory Elements for KIAA0430 Gene

Promoters for KIAA0430 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0430 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0430 Gene

Chromosome:
16
Start:
15,594,369 bp from pter
End:
15,643,166 bp from pter
Size:
48,798 bases
Orientation:
Minus strand

Genomic View for KIAA0430 Gene

Genes around KIAA0430 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0430 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0430 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0430 Gene

Proteins for KIAA0430 Gene

  • Protein details for KIAA0430 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4F3-MARF1_HUMAN
    Recommended name:
    Meiosis arrest female protein 1
    Protein Accession:
    Q9Y4F3
    Secondary Accessions:
    • A8MSK2
    • B2RNX2
    • B4DYY9
    • B7ZMG1
    • B7ZMG2
    • F8VV09
    • Q6P1R6
    • Q8WYR2
    • Q9Y4J9

    Protein attributes for KIAA0430 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 KIAA0430 Gene

    Alternative splice isoforms for KIAA0430 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0430 Gene

Proteomics data for KIAA0430 Gene at MOPED

Post-translational modifications for KIAA0430 Gene

  • Ubiquitination at Lys 189, Lys 277, Lys 318, Lys 542, and Lys 585
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0430 Gene

Domains & Families for KIAA0430 Gene

Gene Families for KIAA0430 Gene

Suggested Antigen Peptide Sequences for KIAA0430 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4F3

UniProtKB/Swiss-Prot:

MARF1_HUMAN :
  • Contains 8 HTH OST-type domains.
Domain:
  • Contains 8 HTH OST-type domains.
  • Contains 1 NYN domain.
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with KIAA0430: view

Function for KIAA0430 Gene

Molecular function for KIAA0430 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 KIAA0430 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KIAA0430: view
genes like me logo Genes that share phenotypes with KIAA0430: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KIAA0430

CRISPR Products

miRNA for KIAA0430 Gene

miRTarBase miRNAs that target KIAA0430

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0430 Gene

Localization for KIAA0430 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0430 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0430 Gene COMPARTMENTS Subcellular localization image for KIAA0430 gene
Compartment Confidence
peroxisome 5
cytosol 3
golgi apparatus 3
nucleus 3

Gene Ontology (GO) - Cellular Components for KIAA0430 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 15932519
genes like me logo Genes that share ontologies with KIAA0430: view

Pathways & Interactions for KIAA0430 Gene

SuperPathways for KIAA0430 Gene

No Data Available

Interacting Proteins for KIAA0430 Gene

Gene Ontology (GO) - Biological Process for KIAA0430 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010468 regulation of gene expression IEA,ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with KIAA0430: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA0430 Gene

Drugs & Compounds for KIAA0430 Gene

No Compound Related Data Available

Transcripts for KIAA0430 Gene

Unigene Clusters for KIAA0430 Gene

KIAA0430:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0430 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b
SP1: - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:

Relevant External Links for KIAA0430 Gene

GeneLoc Exon Structure for
KIAA0430
ECgene alternative splicing isoforms for
KIAA0430

Expression for KIAA0430 Gene

mRNA expression in normal human tissues for KIAA0430 Gene

Protein differential expression in normal tissues from HIPED for KIAA0430 Gene

This gene is overexpressed in Plasma (47.6) and Serum (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA0430 Gene



SOURCE GeneReport for Unigene cluster for KIAA0430 Gene Hs.173524

genes like me logo Genes that share expression patterns with KIAA0430: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KIAA0430 Gene

Orthologs for KIAA0430 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0430 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MARF1 35
  • 89.04 (n)
  • 90.74 (a)
MARF1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0430 35
  • 90.97 (n)
  • 92.94 (a)
KIAA0430 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Marf1 35
  • 85.22 (n)
  • 86.41 (a)
Marf1 16
Marf1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0430 35
  • 99.87 (n)
  • 99.94 (a)
KIAA0430 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0430 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0430 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0430 35
  • 76.35 (n)
  • 79.39 (a)
KIAA0430 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0430 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0430 35
  • 68.79 (n)
  • 71.07 (a)
Str.4610 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4930 35
zebrafish
(Danio rerio)
Actinopterygii Dr.10364 35
fruit fly
(Drosophila melanogaster)
Insecta CG17018 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for KIAA0430:
  • 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 KIAA0430 Gene

ENSEMBL:
Gene Tree for KIAA0430 (if available)
TreeFam:
Gene Tree for KIAA0430 (if available)

Paralogs for KIAA0430 Gene

No data available for Paralogs for KIAA0430 Gene

Variants for KIAA0430 Gene

Sequence variations from dbSNP and Humsavar for KIAA0430 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1306848 -- 15,614,516(+) cgcgg(G/T)ggctc intron-variant
rs2062533 -- 15,597,837(+) CCTAG(C/G)GGGGC intron-variant, utr-variant-3-prime
rs2071330 -- 15,603,938(-) GTCCC(A/G)TTCTA intron-variant
rs2071331 -- 15,601,202(-) GACGG(A/C/T)GTGCA intron-variant
rs2071333 -- 15,624,734(-) GGTTA(C/T)ATGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0430 Gene

Variant ID Type Subtype PubMed ID
nsv435664 CNV Deletion 17901297
esv2714015 CNV Deletion 23290073
dgv2610n71 CNV Gain 21882294
nsv457428 CNV Gain 19166990
nsv833147 CNV Loss 17160897
nsv469626 CNV Loss 16826518
nsv819327 CNV Loss 19587683

Variation tolerance for KIAA0430 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 KIAA0430 Gene

HapMap Linkage Disequilibrium report
KIAA0430
Human Gene Mutation Database (HGMD)
KIAA0430

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0430 Gene

Disorders for KIAA0430 Gene

Relevant External Links for KIAA0430

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0430

No disorders were found for KIAA0430 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0430 Gene

Publications for KIAA0430 Gene

  1. Limkain b1, a novel human autoantigen localized to a subset of ABCD3 and PXF marked peroxisomes. (PMID: 15932519) Dunster K. … Sentry J.W. (Clin. Exp. Immunol. 2005) 2 3 4 23 67
  2. MARF1 regulates essential oogenic processes in mice. (PMID: 22442484) Su Y.Q. … Eppig J.J. (Science 2012) 2 3
  3. Meiosis arrest female 1 (MARF1) has nuage-like function in mammalian oocytes. (PMID: 23090997) Su Y.Q. … Eppig J.J. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3
  4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 2 3
  5. 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 Res. 1997) 2 3

Products for KIAA0430 Gene

Sources for KIAA0430 Gene

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