Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIAA0430 Gene

Aliases for KIAA0430 Gene

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

Enhancers for KIAA0430 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around KIAA0430 on UCSC Golden Path with GeneCards custom track

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.
    • 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

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

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

No data available for Suggested Antigen Peptide Sequences for KIAA0430 Gene

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 --
GO:0003723 RNA binding IEA --
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

CRISPR Products

miRNA for KIAA0430 Gene

miRTarBase miRNAs that target KIAA0430

Inhibitory RNA 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

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 IDA 15932519
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with KIAA0430: view

Pathways & Interactions for KIAA0430 Gene

SuperPathways for KIAA0430 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0430 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 ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0048477 oogenesis ISS --
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, MaxQB, and MOPED for KIAA0430 Gene



NURSA nuclear receptor signaling pathways regulating expression of KIAA0430 Gene:

KIAA0430

SOURCE GeneReport for Unigene cluster for KIAA0430 Gene:

Hs.173524
genes like me logo Genes that share expression patterns with KIAA0430: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 89.04 (n)
  • 90.74 (a)
MARF1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0430 34
  • 90.97 (n)
  • 92.94 (a)
KIAA0430 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Marf1 34
  • 85.22 (n)
  • 86.41 (a)
Marf1 16
Marf1 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0430 34
  • 99.87 (n)
  • 99.94 (a)
KIAA0430 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0430 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0430 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0430 34
  • 76.35 (n)
  • 79.39 (a)
KIAA0430 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0430 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0430 34
  • 68.79 (n)
  • 71.07 (a)
Str.4610 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4930 34
zebrafish
(Danio rerio)
Actinopterygii Dr.10364 34
fruit fly
(Drosophila melanogaster)
Insecta CG17018 35
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for KIAA0430 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 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
rs3743521 -- 15,595,864(-) CAGCA(C/T)TGGAA utr-variant-3-prime
rs3752422 -- 15,630,256(-) AAGGG(A/G)GTTGC intron-variant
rs3752423 -- 15,630,187(-) GAAAC(C/T)TTCGG intron-variant
rs3752424 -- 15,601,790(-) TCCCT(A/G)TATGC intron-variant
rs3752425 -- 15,601,501(-) GCTAA(A/C/G)AGGGA intron-variant

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

Human Gene Mutation Database (HGMD)
KIAA0430
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 65
  2. 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 4 65
  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 Res. 1997) 2 3 4 65
  4. MARF1 regulates essential oogenic processes in mice. (PMID: 22442484) Su Y.Q. … Eppig J.J. (Science 2012) 2 3 65
  5. 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 65

Products for KIAA0430 Gene

Sources for KIAA0430 Gene

Content