KIAA0391 Gene
protein-coding GIFtS: 48
GCID: GC14P035591
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KIAA0391
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Aliases
for KIAA0391 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| KIAA03911 2 | | MRPP31 2 3 | | Mitochondrial RNase P Protein 32 3 | | Mitochondrial Ribonuclease P Protein 32 | | Mitochondrial RNase P Subunit 32 |
Export aliases for KIAA0391 gene to outside databasesPrevious GC identifers: GC14P032969 GC14P029379 GC14P033581 GC14P034661 GC14P015704 |
Summaries
for KIAA0391 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: MRRP3_HUMAN, O15091Function: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed ofMRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends
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Genomic Views
for KIAA0391 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for KIAA0391
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 14q13.2KIAA0391 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P035591: view genomic region
(about GC identifiers)
Start:
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35,591,755 bp from pter |
End:
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35,786,680 bp from pter |
Size:
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194,926 bases |
Orientation:
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plus strand |
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Proteins
for KIAA0391 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAA20845.2; Type=Erroneous initiation;
Secondary accessions: B4DXD9 B4E0S8 B4E211 C4AM93 D3DS99 D3DSA1 Q86SZ4 Q86YB5 Q8N5L5Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15091
KIAA0391 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001243607.1 NP_001243608.1 NP_001243609.1 NP_001243610.1 NP_055487.2
ENSEMBL proteins: ENSP00000454657
Human Recombinant Protein Products for KIAA0391:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- |
KIAA0391 for ontologies About GeneDecksing
KIAA0391 Antibody Products:
Assay Products for KIAA0391: |
Protein
Domains /
Families
for KIAA0391 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KIAA0391 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O15091ProtoNet protein and cluster: O15091 |
Function
for KIAA0391 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MRRP3_HUMAN, O15091Function: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed ofMRPP1/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:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Synthesis Service for KIAA0391 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0391 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0391 |
|
Pathways & Interactions
for KIAA0391 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0391
5/229 Interacting proteins for KIAA0391 (O150912, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 229)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008033 | tRNA processing |
IEA | -- |
KIAA0391 for ontologies About GeneDecksing
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Drugs & Compounds
for KIAA0391 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KIAA0391
Search CenterWatch for drugs/clinical trials and news about KIAA0391 / MRRP3
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Transcripts
for KIAA0391 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: AB0023891 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000557565(uc001wsy.1 uc010tps.1 uc001wsz.1 uc001wtc.1 uc001wta.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KIAA0391 (NM_014672) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIAA0391 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0391 |
Additional cDNA 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 24/971 AceView cDNA sequences (see all 971): BQ638242 BM797751 CB122540 BU687026 BU673997 BG058716 BM781596 CB119973 BQ010055 AU102681 NM_002791 BQ010199 AA707205 AI167757 BU181458 BM801559 BU629339 AU103632 AU076421 BM712227 BM971370 BU166091 BQ219832 BU688058
GeneLoc Exon Structure
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Expression
for KIAA0391 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KIAA0391 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATCATTTA
About this image
See KIAA0391 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0391
SOURCE GeneReport for Unigene cluster: Hs.458487
SABiosciences Custom PCR Arrays for KIAA0391
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIAA0391
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KIAA0391 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0391 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0391 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0391 |
Orthologs
for KIAA0391 gene
(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)
About This Section
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This gene was present in the common ancestor of eukaryotes.
Orthologs for KIAA0391 gene from 7/20 species (see all 20) About this table
ENSEMBL Gene Tree for KIAA0391 (if available)
TreeFam Gene Tree for KIAA0391 (if available) |
Paralogs
for KIAA0391 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KIAA0391 gene
- ENSG000001008902
KIAA0391 for paralogs About GeneDecksing
|
Genomic Variants
for KIAA0391 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KIAA0391 (35591755 - 35786680 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for KIAA0391
5 CNVs: 58667 35249 37499 10441 66617
3 Indels: 76626 66618 87177 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA0391 |
|
Disorders
/ Diseases
for KIAA0391 gene
(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.)
About This Section
|
KIAA0391 for disorders About GeneDecksing
OMIM gene information: 609947
OMIM disorders: --
3  diseases for KIAA0391: About MalaCardscartilage-hair hypoplasia myocardial infarction parkinson's disease
Human Genome Epidemiology (HuGE) Navigator: KIAA0391 (2 documents)
Export disorders for KIAA0391 gene to outside databases
|
Publications
for KIAA0391 gene (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)
About This Section
|
PubMed articles for KIAA0391 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with KIAA0391) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2008)
- 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. (1997)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Genome-wide association analysis identifies three pso riasis susceptibility loci. (PubMed id 20953189)1 Stuart P.E....Elder J.T. (2010)
- Haplotypes encompassing the KIAA0391 and PSMA6 gene c luster confer a genetic link for myocardial infarction and coronary artery dise ase. (PubMed id 19624571)1 Alsmadi O....Dzimiri N. (2009)
- The NYN domains: novel predicted RNAses with a PIN do main-like fold. (PubMed id 17114934)1 Anantharaman V. and Aravind L. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M....Kim N.S. (2006)
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External Searches for KIAA0391 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KIAA0391 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KIAA0391 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing KIAA0391 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KIAA0391 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for KIAA0391 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KIAA0391 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIAA0391 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIAA0391 | | | OriGene Protein Over-expression Lysate for KIAA0391 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for KIAA0391 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0391 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 | | | KIAA0391 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0391 |
|  |  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0391 |
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