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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
  • Mitochondrial Ribonuclease P Protein 3 3
  • 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. Diseases associated with KIAA0391 include Syndromic X-Linked Intellectual Disability Type 10. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. 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 , CIViC 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

Enhancers for KIAA0391 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
GH14G035120 1.4 ENCODE dbSUPER 11.4 +1.2 1160 3.8 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D PPP2R3C EAPP RPS19P3 KIAA0391 NFKBIA FAM177A1 BAZ1A
GH14G035330 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +215.7 215658 12.3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 PSMA6 NFKBIA EAPP RPS19P3 PPP2R3C BAZ1A FAM177A1 SRP54 QRSL1P3 LOC644584
GH14G035396 1.8 FANTOM5 ENCODE dbSUPER 4.6 +280.9 280850 10.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 NFKBIA PPP2R3C FAM177A1 RALGAPA1 PSMA6 KIAA0391 SRP54 RPLP0P3
GH14G035291 1.4 ENCODE dbSUPER 5.9 +172.1 172130 5.5 HDGF PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 PPP2R3C EAPP PSMA6 RPS19P3 NFKBIA FAM177A1 KIAA0391 RALGAPA1 GC14P035292 GC14P035293
GH14G034833 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -287.3 -287304 1.9 FOXA2 ZNF133 MAX CEBPG YY1 THAP11 GATAD2A KLF6 FOXA3 CEBPB BAZ1A KIAA0391 FAM177A1 PPP2R3C SRP54 GC14M034846 RPL12P6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA0391 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0391 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000067624 1017 2601 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

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

Post-translational modifications for KIAA0391 Gene

  • Ubiquitination at isoforms=291
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0391 Gene

Domains & Families for KIAA0391 Gene

Protein Domains for KIAA0391 Gene

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.

Gene Ontology (GO) - Molecular Function for KIAA0391 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004526 ribonuclease P activity EXP,IBA --
genes like me logo Genes that share ontologies with KIAA0391: view

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 KIAA0391 gene
Compartment Confidence
mitochondrion 5
nucleus 5

Gene Ontology (GO) - Cellular Components for KIAA0391 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0030678 mitochondrial ribonuclease P complex TAS 23042678
genes like me logo Genes that share ontologies with KIAA0391: view

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000440915%0d%0a9606.ENSP00000454657%0d%0a
Selected Interacting proteins: O15091-MRRP3_HUMAN ENSP00000440915 for KIAA0391 Gene via IID STRING MINT

Gene Ontology (GO) - Biological Process for KIAA0391 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001682 tRNA 5-leader removal IBA --
GO:0008033 tRNA processing IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
GO:0090646 mitochondrial tRNA processing TAS --
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

(1) Drugs for KIAA0391 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zileuton Approved, Investigational, Withdrawn Pharma Inhibition, Inhibitor 5-lipoxygenase (5-LOX) inhibitor, orally active, Orally active 5-LOX inhibitor 20
genes like me logo Genes that share compounds with KIAA0391: view

Transcripts for KIAA0391 Gene

Unigene Clusters for KIAA0391 Gene

KIAA0391:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for KIAA0391 Gene



NURSA nuclear receptor signaling pathways regulating expression of KIAA0391 Gene:

KIAA0391

SOURCE GeneReport for Unigene cluster for KIAA0391 Gene:

Hs.458487

Evidence on tissue expression from TISSUES for KIAA0391 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with KIAA0391: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 KIAA0391 34
  • 99.45 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KIAA0391 34
  • 85.84 (n)
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 1110008L16Rik 16 35 34
  • 82.12 (n)
rat
(Rattus norvegicus)
Mammalia RGD1305089 34
  • 81.35 (n)
cow
(Bos Taurus)
Mammalia KIAA0391 35
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA0391 34
  • 60.29 (n)
-- 35
  • 44 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0391 34
  • 57.68 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555630 34
  • 57.09 (n)
si:dkeyp-33b5.4 35
  • 43 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001968 34
  • 44.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15896 36 34 35
  • 41.41 (n)
Species where no ortholog for KIAA0391 was found in the sources mined by GeneCards:
  • 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
rs1000001964 -- 35,198,860(+) ACCCC(A/G)TCTCT intron-variant
rs1000021647 -- 35,242,323(+) GACAC(A/C/G)TTCAC intron-variant
rs1000041774 -- 35,267,500(+) AAAAA(A/G)CCCCG intron-variant
rs1000069722 -- 35,153,445(+) ACAAG(A/G)AAGGC intron-variant
rs1000074790 -- 35,197,194(+) GTGAT(A/G)ACCAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1868n100 CNV gain 25217958
dgv1869n100 CNV gain 25217958
dgv3621n54 CNV loss 21841781
dgv3622n54 CNV loss 21841781
dgv3623n54 CNV loss 21841781
dgv3624n54 CNV loss 21841781
dgv3625n54 CNV loss 21841781
dgv3626n54 CNV loss 21841781
dgv3627n54 CNV loss 21841781
dgv3628n54 CNV loss 21841781
dgv3629n54 CNV loss 21841781
dgv370n67 CNV loss 20364138
dgv390e199 CNV deletion 23128226
esv2421627 CNV deletion 20811451
esv24277 CNV loss 19812545
esv24640 CNV loss 19812545
esv2678745 CNV deletion 23128226
esv2748595 CNV deletion 23290073
esv2748596 CNV deletion 23290073
esv3551375 CNV deletion 23714750
esv3551377 CNV deletion 23714750
esv3581117 CNV loss 25503493
esv3584249 CNV gain 25503493
esv3584260 CNV gain 25503493
esv3634050 CNV loss 21293372
esv3634052 CNV loss 21293372
esv3634053 CNV loss 21293372
esv3634054 CNV loss 21293372
esv3892500 CNV loss 25118596
nsv1040300 CNV gain 25217958
nsv1042625 CNV gain 25217958
nsv1046680 CNV loss 25217958
nsv1069790 CNV deletion 25765185
nsv1240 CNV deletion 18451855
nsv498827 CNV loss 21111241
nsv514738 CNV loss 21397061
nsv519458 CNV loss 19592680
nsv564264 CNV gain 21841781
nsv564265 CNV loss 21841781
nsv564278 CNV loss 21841781
nsv564316 CNV loss 21841781
nsv564317 CNV loss 21841781
nsv817626 CNV loss 17921354
nsv819579 CNV loss 19587683
nsv976329 CNV duplication 23825009
nsv977455 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0391

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

Disorders for KIAA0391 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA0391 Gene - From: DISEASES

Disorder Aliases PubMed IDs
syndromic x-linked intellectual disability type 10
  • x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
- elite association - COSMIC cancer census association via MalaCards

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

No data available for 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 64
  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 4 64
  3. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PMID: 20953189) Stuart P.E. … Elder J.T. (Nat. Genet. 2010) 3 46 64
  4. Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease. (PMID: 19624571) Alsmadi O. … Dzimiri N. (Ann. Hum. Genet. 2009) 3 46 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for KIAA0391 Gene

Sources for KIAA0391 Gene

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