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KIAA0391 Gene

protein-coding   GIFtS: 53
GCID: GC14P035591

KIAA0391

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KIAA03911 2     MRPP32 3
Mitochondrial RNase P Subunit 31 2     PRORP2
Proteinaceous RNase P1 2     Mitochondrial Ribonuclease P Protein 32
Mitochondrial RNase P Protein 32 3     

External Ids:    HGNC: 199581   Entrez Gene: 96922   Ensembl: ENSG000001008907   OMIM: 6099475   UniProtKB: O150913   

Export aliases for KIAA0391 gene to outside databases

Previous GC identifers: GC14P032969 GC14P029379 GC14P033581 GC14P034661 GC14P015704


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0391 Gene:
KIAA0391 (KIAA0391) is a protein-coding gene.

UniProtKB/Swiss-Prot: MRRP3_HUMAN, O15091
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0391 gene promoter:
         C/EBPbeta   AML1a   Olf-1   FOXO3   MIF-1   LCR-F1   FOXO3b   PPAR-gamma1   FOXO3a   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0391


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.2   Ensembl cytogenetic band:  14q13.2   HGNC cytogenetic band: 14q13.2

KIAA0391 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0391 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P035591:  view genomic region     (about GC identifiers)

Start:
35,591,052 bp from pter      End:
35,743,271 bp from pter
Size:
152,220 bases      Orientation:
plus strand

1 alternative location:
Chr14+ 35,591,755-35,786,680     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MRRP3_HUMAN, O15091 (See protein sequence)
Recommended Name: Mitochondrial ribonuclease P protein 3 precursor  
Size: 583 amino acids; 67315 Da
Subunit: Interacts with MRPP1/TRMT10C and MRPP2/HSD17B10
Sequence caution: Sequence=BAA20845.2; Type=Erroneous initiation;
Secondary accessions: B4DXD9 B4E0S8 B4E211 C4AM93 D3DS99 D3DSA1 Q86SZ4 Q86YB5 Q8N5L5
Alternative splicing: 4 isoforms:  O15091-1   O15091-2   O15091-3   O15091-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0391: NX_O15091

Explore proteomics data for KIAA0391 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys91
  • Modification sites at PhosphoSitePlus

  • See KIAA0391 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001243607.1  NP_001243608.1  NP_001243609.1  NP_001243610.1  NP_055487.2  

    ENSEMBL proteins: 
     ENSP00000474967   ENSP00000474656   ENSP00000474620   ENSP00000474700   ENSP00000324697  
     ENSP00000440915   ENSP00000473856   ENSP00000474299   ENSP00000450898   ENSP00000250377  

    KIAA0391 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026318 MRPP3

    Graphical View of Domain Structure for InterPro Entry O15091

    ProtoNet protein and cluster: O15091


    Find genes that share domains with KIAA0391           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MRRP3_HUMAN, O15091
    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

         Genatlas biochemistry entry for KIAA0391:
    cDNA sequence,expressed in brain,70kDa

    Animal Models:
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    1 qRT-PCR Assays for microRNA that regulate KIAA0391:
    hsa-miR-548p
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MRRP3_HUMAN, O15091: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with KIAA0391           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA0391
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0391

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for KIAA0391 (O150912, 3 ENSP000002503774) via UniProtKB, MINT, STRING, and/or I2D (see all 244)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSD17B10Q997142, 3, ENSP000001682164MINT-8079030 I2D: score=1 STRING: ENSP00000168216
    TRMT10CQ7L0Y32, 3, ENSP000003123564MINT-8079030 I2D: score=1 STRING: ENSP00000312356
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing IEA--

    Find genes that share ontologies with KIAA0391           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIAA0391 (MRRP3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIAA0391 gene (5 alternative transcripts): 
    NM_001256678.1  NM_001256679.1  NM_001256680.1  NM_001256681.1  NM_014672.3  

    Unigene Cluster for KIAA0391:

    KIAA0391
    Hs.458487  [show with all ESTs]
    Unigene Representative Sequence: AB002389
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000603611 ENST00000603588 ENST00000604073 ENST00000604948 ENST00000605201
    ENST00000321130 ENST00000534898 ENST00000603544 ENST00000605870 ENST00000557404
    ENST00000250377
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate KIAA0391:
    hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0391 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0391
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0391

    Additional mRNA sequence: 

    AB002389.1 AK301931.1 AK303508.1 AK304066.1 BC001542.1 BC032221.1 BC044580.1 BX161394.1 
    BX161487.1 

    18 DOTS entries:

    DT.316780  DT.100691349  DT.100789559  DT.101980696  DT.100653131  DT.75171065  DT.92432428  DT.120788804 
    DT.99935143  DT.99962461  DT.100024230  DT.100737439  DT.100760486  DT.120788753  DT.120788909  DT.95084111 
    DT.100789557  DT.120788717 

    Selected AceView cDNA sequences (see all 971):

    CA444502 CR606392 BM975492 CA429277 BQ020575 AA026136 BQ053938 BM797751 
    BQ010199 CR616921 BG058716 BQ050627 T36186 BM825092 BM724378 BU688058 
    BM781596 BU752713 BM801559 BM463609 AI973219 CB163325 AA448491 BQ001572 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0391    About this scheme

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


    ECgene alternative splicing isoforms for KIAA0391

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIAA0391 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATCATTTA
    KIAA0391 Expression
    About this image

    KIAA0391 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0391 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458487
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KIAA0391 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110008L16Rik1 , 5 RIKEN cDNA 1110008L16 gene1, 5 82.12(n)1
    78.65(a)1
      12 (23.91 cM)5
    661321  NM_025373.11  NP_079649.11 
     552995775 
    chicken
    (Gallus gallus)
    Aves KIAA03911 KIAA0391 60.29(n)
    50.1(a)
      423325  XM_421241.3  XP_421241.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    55(a)
    1 → many
    2(54473219-54524439)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa03911 KIAA0391 57.68(n)
    50.91(a)
      100125795  XM_002935333.2  XP_002935379.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BG302883.12   -- 75.33(n)    BG302883.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG158961 , 3 CG158961 26(a)3
    41.41(n)1
    29.36(a)1
      315681  NM_001258620.11  NP_001245549.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIAA0391 (see all 3136)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908040341,2
    --35593532(+) GCAGTA/GGTGTG 5 -- int10--------
    rs28998301,2
    C,F,A--35593599(+) ctcctC/Gagtag 5 -- int111Minor allele frequency- G:0.35NA WA CSA EA 374
    rs1826455711,2
    --35593762(+) CTTTAC/TGACAA 5 -- int10--------
    rs1888400651,2
    --35593849(+) TATAGC/TAGTTT 5 -- int10--------
    rs1932265471,2
    --35593909(+) TAGGCA/GTCTAG 5 -- int10--------
    rs1462266921,2
    --35593916(+) CTAGTA/GTGATG 5 -- int10--------
    rs1390687641,2
    --35594021(+) AGTTCC/GTCTGA 5 -- int10--------
    rs1997363201,2
    --35594074(+) TCTCT-/CCCCTT 5 -- int10--------
    rs2016390801,2
    C--35594078(+) CTCCCC/TTTTTT 5 -- int10--------
    rs1846261841,2
    --35594097(+) GAGACA/GGAGTT 5 -- int10--------

    HapMap Linkage Disequilibrium report for KIAA0391 (35591052 - 35743271 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA0391 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678745CNV Deletion23128226
    esv2748596CNV Deletion23290073
    esv2748595CNV Deletion23290073
    esv2421627CNV Deletion20811451
    dgv390e199CNV Deletion23128226
    nsv901615CNV Loss21882294
    nsv819579CNV Loss19587683
    dgv370n67CNV Loss20364138
    nsv817626CNV Loss17921354
    nsv498827CNV Loss21111241

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609947    OMIM disorders: --


    Find genes that share disorders with KIAA0391           About GenesLikeMe

    Genetic Association Database (GAD): KIAA0391
    Human Genome Epidemiology (HuGE) Navigator: KIAA0391 (2 documents)

    Export disorders for KIAA0391 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIAA0391 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with KIAA0391)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. (PubMed id 18984158)1, 2, 3 Holzmann J....Rossmanith W. (Cell 2008)
    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. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PubMed id 20953189)1, 4 Stuart P.E....Elder J.T. (Nat. Genet. 2010)
    4. Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease. (PubMed id 19624571)1, 4 Alsmadi O....Dzimiri N. (Ann. Hum. Genet. 2009)
    5. The amyloid-I^-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P. (PubMed id 23755257)1 Vilardo E. and Rossmanith W. (PLoS ONE 2013)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsatellite markers. (PubMed id 20136554)4 Sjakste T....Sjakste N. (DNA Cell Biol. 2010)
    10. The NYN domains: novel predicted RNAses with a PIN domain-like fold. (PubMed id 17114934)1 Anantharaman V. and Aravind L. (RNA Biol 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9692 HGNC: 19958 AceView: PSMA6andKIAA0391 Ensembl:ENSG00000100890 euGenes: HUgn9692
    ECgene: KIAA0391 H-InvDB: KIAA0391

    (According to HUGE)
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    HUGE: KIAA0391

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KIAA0391 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIAA0391 gene:
    Search GeneIP for patents involving KIAA0391

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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