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Aliases for KIAA0391 Gene

Aliases for KIAA0391 Gene

  • KIAA0391 2 3
  • Mitochondrial RNase P Subunit 3 2 3
  • Mitochondrial RNase P Protein 3 3 4
  • Proteinaceous RNase P 2 3
  • MRPP3 3 4
  • PRORP 3

External Ids for KIAA0391 Gene

Previous GeneCards Identifiers for KIAA0391 Gene

  • GC14P032969
  • GC14P029379
  • GC14P033581
  • GC14P034661
  • GC14P035591
  • GC14P015704

Summaries for KIAA0391 Gene

GeneCards Summary for KIAA0391 Gene

KIAA0391 (KIAA0391) is a Protein Coding gene. Among its related pathways are Gene Expression and tRNA processing. An important paralog of this gene is ENSG00000258790.

UniProtKB/Swiss-Prot for KIAA0391 Gene

  • Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5-ends.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0391 Gene

Genomics for KIAA0391 Gene

Regulatory Elements for KIAA0391 Gene

Promoters for KIAA0391 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0391 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0391 Gene

Chromosome:
14
Start:
35,121,283 bp from pter
End:
35,277,614 bp from pter
Size:
156,332 bases
Orientation:
Plus strand

Genomic View for KIAA0391 Gene

Genes around KIAA0391 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0391 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0391 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0391 Gene

Proteins for KIAA0391 Gene

  • Protein details for KIAA0391 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15091-MRRP3_HUMAN
    Recommended name:
    Mitochondrial ribonuclease P protein 3
    Protein Accession:
    O15091
    Secondary Accessions:
    • B4DXD9
    • B4E0S8
    • B4E211
    • C4AM93
    • D3DS99
    • D3DSA1
    • Q86SZ4
    • Q86YB5
    • Q8N5L5

    Protein attributes for KIAA0391 Gene

    Size:
    583 amino acids
    Molecular mass:
    67315 Da
    Quaternary structure:
    • Interacts with MRPP1/TRMT10C and MRPP2/HSD17B10.
    SequenceCaution:
    • Sequence=BAA20845.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIAA0391 Gene

    Alternative splice isoforms for KIAA0391 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0391 Gene

Proteomics data for KIAA0391 Gene at MOPED

Post-translational modifications for KIAA0391 Gene

  • Ubiquitination at Lys 91
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for KIAA0391 Gene

Domains & Families for KIAA0391 Gene

Protein Domains for KIAA0391 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0391 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0391: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA0391 Gene

Function for KIAA0391 Gene

Molecular function for KIAA0391 Gene

GENATLAS Biochemistry:
cDNA sequence,expressed in brain,70kDa
UniProtKB/Swiss-Prot Function:
Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5-ends.

Phenotypes for KIAA0391 Gene

GenomeRNAi human phenotypes for KIAA0391:
genes like me logo Genes that share phenotypes with KIAA0391: view

Animal Model Products

CRISPR Products

miRNA for KIAA0391 Gene

miRTarBase miRNAs that target KIAA0391

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0391 Gene

Localization for KIAA0391 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0391 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0391 Gene COMPARTMENTS Subcellular localization image for KIAA0391 gene
Compartment Confidence
mitochondrion 5
chloroplast 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for KIAA0391 Gene

Pathways & Interactions for KIAA0391 Gene

genes like me logo Genes that share pathways with KIAA0391: view

Pathways by source for KIAA0391 Gene

Interacting Proteins for KIAA0391 Gene

Gene Ontology (GO) - Biological Process for KIAA0391 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0090501 RNA phosphodiester bond hydrolysis EXP 18984158
genes like me logo Genes that share ontologies with KIAA0391: view

No data available for SIGNOR curated interactions for KIAA0391 Gene

Drugs & Compounds for KIAA0391 Gene

No Compound Related Data Available

Transcripts for KIAA0391 Gene

Unigene Clusters for KIAA0391 Gene

KIAA0391:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0391 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - - -
SP2:
SP3: - -
SP4: -
SP5:

Relevant External Links for KIAA0391 Gene

GeneLoc Exon Structure for
KIAA0391
ECgene alternative splicing isoforms for
KIAA0391

Expression for KIAA0391 Gene

mRNA expression in normal human tissues for KIAA0391 Gene

Protein differential expression in normal tissues from HIPED for KIAA0391 Gene

This gene is overexpressed in Bone (36.5) and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for KIAA0391 Gene



SOURCE GeneReport for Unigene cluster for KIAA0391 Gene Hs.458487

genes like me logo Genes that share expression patterns with KIAA0391: 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 KIAA0391 Gene

Orthologs for KIAA0391 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0391 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
KIAA0391 35
  • 99.45 (n)
  • 98.98 (a)
cow
(Bos Taurus)
Mammalia KIAA0391 36
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 80 (a)
OneToMany
KIAA0391 35
  • 85.84 (n)
  • 80.31 (a)
mouse
(Mus musculus)
Mammalia 1110008L16Rik 36
  • 78 (a)
OneToMany
1110008L16Rik 16
1110008L16Rik 35
  • 82.12 (n)
  • 78.65 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1305089 35
  • 81.35 (n)
  • 77.2 (a)
chicken
(Gallus gallus)
Aves KIAA0391 35
  • 60.29 (n)
  • 50.1 (a)
-- 36
  • 44 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0391 35
  • 57.68 (n)
  • 50.91 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-33b5.4 36
  • 43 (a)
OneToMany
LOC555630 35
  • 57.09 (n)
  • 49.69 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001968 35
  • 44.98 (n)
  • 31.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15896 37
  • 26 (a)
CG15896 35
  • 41.41 (n)
  • 29.36 (a)
CG15896 36
  • 26 (a)
OneToMany
Species with no ortholog for KIAA0391:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KIAA0391 Gene

ENSEMBL:
Gene Tree for KIAA0391 (if available)
TreeFam:
Gene Tree for KIAA0391 (if available)

Paralogs for KIAA0391 Gene

Paralogs for KIAA0391 Gene

genes like me logo Genes that share paralogs with KIAA0391: view

Variants for KIAA0391 Gene

Sequence variations from dbSNP and Humsavar for KIAA0391 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs11156878 - 35,266,761(+) ACGGA(A/G)TCTGC reference, missense
rs7218 -- 35,273,857(+) GTGAC(A/T)AATAG utr-variant-3-prime
rs10715 -- 35,273,701(+) CATTG(A/G)TTTTT utr-variant-3-prime
rs717994 -- 35,219,984(-) acaca(C/G)agaaa intron-variant
rs727096 -- 35,242,698(-) AAATA(C/T)TGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0391 Gene

Variant ID Type Subtype PubMed ID
nsv901615 CNV Loss 21882294
nsv1240 CNV Loss 18451855
dgv390e199 CNV Deletion 23128226
dgv370n67 CNV Loss 20364138
esv24640 CNV Loss 19812545
nsv498827 CNV Loss 21111241
esv2748595 CNV Deletion 23290073
nsv819579 CNV Loss 19587683
nsv514738 CNV Loss 21397061
esv2421627 CNV Deletion 20811451
esv24277 CNV Loss 19812545
esv2678745 CNV Deletion 23128226
esv2748596 CNV Deletion 23290073
nsv519458 CNV Loss 19592680
nsv817626 CNV Loss 17921354

Variation tolerance for KIAA0391 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0391 Gene

HapMap Linkage Disequilibrium report
KIAA0391

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0391 Gene

Disorders for KIAA0391 Gene

Relevant External Links for KIAA0391

Genetic Association Database (GAD)
KIAA0391
Human Genome Epidemiology (HuGE) Navigator
KIAA0391
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0391

No disorders were found for KIAA0391 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0391 Gene

Publications for KIAA0391 Gene

  1. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. (PMID: 18984158) Holzmann J. … Rossmanith W. (Cell 2008) 2 3 4 67
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Structure of the nuclease subunit of human mitochondrial RNase P. (PMID: 25953853) Reinhard L. … HAollberg B.M. (Nucleic Acids Res. 2015) 3
  5. High-resolution genomic analysis of human mitochondrial RNA sequence variation. (PMID: 24763589) Hodgkinson A. … Awadalla P. (Science 2014) 3

Products for KIAA0391 Gene

Sources for KIAA0391 Gene

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