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PIN4 Gene

protein-coding   GIFtS: 56

GC0XP065157
protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)
(Previous names: protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)1 2     OTTHUMP000002174852
EPVH1 2 5     OTTHUMP000000235272
PAR141 2 5     peptidyl-prolyl cis-trans isomerase NIMA-interacting 42
PAR171 2     OTTHUMP000002174832
Peptidyl-prolyl cis/trans isomerase EPVH2 3     parvulin-142
Peptidyl-prolyl cis-trans isomerase Pin42 3     parvulin-172
Rotamase Pin42 3     MGC1384862
PPIase Pin42 3     Parvulin-143
hPar142 3     Par173
hEPVH2 3     Par143
hPar172 3     EC 5.2.1.83
protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)1     Parvulin-173
eukaryotic parvulin homolog2     

External Ids:    HGNC: 89921   Entrez Gene: 53032   Ensembl: ENSG000001023097   UniProtKB: Q9Y2373   

Export aliases for PIN4 gene to outside databases

Previous GC identifers: GC0XP067133 GC0XP068641 GC0XP069634 GC0XP070268 GC0XP071184 GC0XP071318 GC0XP071401


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PIN4:
This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The
encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin
remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. (provided
by RefSeq)

UniProtKB/Swiss-Prot: PIN4_HUMAN, Q9Y237
Function: Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent
AT-rich stretches of double-stranded DNA
Function: Isoform 2 binds to double-stranded DNA

Gene Wiki entry for PIN4

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIN4 gene promoter:
         LUN-1   RFX1   C/EBPalpha   Meis-1   ISGF-3   p300   E4BP4   YY1   Chx10   CUTL1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PIN4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: Xq13   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

PIN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIN4 gene location

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP065157:  view genomic region     (about GC identifiers)

Start:
65,156,426 bp from pter
End:
65,238,895 bp from pter
Size:
82,470 bases
Orientation:
plus strand

1 alternative location:
ChrX+ 71,401,203-71,522,776     
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PIN4_HUMAN, Q9Y237 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4  
Size: 131 amino acids; 13810 Da
Subunit: Isoform 1 is found in pre-ribosomal ribonucleoprotein (pre-rRNP) complexes (By similarity)
Subcellular location: Isoform 1: Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Note=Colocalizes in
the nucleolus during interphase and on the spindle apparatus during mitosis with NPM1
Subcellular location: Isoform 2: Mitochondrion. Mitochondrion matrix. Note=Imported in a time- and membrane
potential-dependent manner to the mitochondrial matrix, but without concomitant processing of the protein. Directed to
mitochondria by a novel N-terminal domain that functions as non-cleavable mitochondrial targeting peptide
Sequence caution: Sequence=AAH05234.2; Type=Erroneous initiation; Sequence=AAH70288.1; Type=Erroneous initiation;
Sequence=AAI04654.1; Type=Erroneous initiation; Sequence=AAI11395.1; Type=Erroneous initiation;
PDB structure from and Proteopedia :
1EQ3 (3D)    1FJD (3D)    
Secondary accessions: A8E0G6 Q0D2H3 Q3MHV0 Q52M21 Q5HYW6 Q6IRW4
Alternative promoter usage: 2 isoforms:  Q9Y237-1   Q9Y237-2   

Explore the universe of human proteins at neXtProt for PIN4: NX_Q9Y237 

Post-translational modifications:

  • Phosphorylated. Isoform 1 phosphorylation occurs both in the nucleus and the cytoplasm. Isoform 1 phosphorylation at
  • Ser-19 does not affect its PPIase activity but is required for nuclear localization, and the dephosphorylation is a
    prerequisite for the binding to DNA. The unphosphorylated isoform 1 associates with the pre-rRNP complexes in the
    nucleus1
  • Isoform 2 is sumoylated by SUMO2 and SUMO31
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001164218.1  NP_006214.2  


    ENSEMBL proteins: 
    ENSP00000421392 ENSP00000402330 ENSP00000418519 ENSP00000362773 ENSP00000218432 ENSP00000421676 
    ENSP00000394066 ENSP00000409154 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: PIN4
    GenScript Custom Purified and Recombinant Proteins Services for PIN4 
    Novus Biologicals Proteins for PIN4
    Novus Biologicals Lysate for PIN4
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005730 nucleolus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005739 mitochondrion IEA--
    GO:0005759 mitochondrial matrix IEA--
    About this table

    PIN4 for ontologies           About GeneDecksing



    Antibodies for PIN4: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PIN4
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for PIN4 
    Novus Biologicals Antibodies for PIN4
    Browse antibodies at Epitomics

    Assays for PIN4: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PIN4 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PIN4 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PIN4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000297 PPIase_PpiC

    Graphical View of Domain Structure for InterPro Entry Q9Y237

    ProtoNet protein and cluster: Q9Y237

    1 Blocks protein family: IPB000297 PpiC-type peptidyl-prolyl cis-trans isomerase

    UniProtKB/Swiss-Prot: PIN4_HUMAN, Q9Y237
    Domain: The PPIase domain enhances mitochondrial targeting
    Similarity: Belongs to the ppiC/parvulin rotamase family. PIN4 subfamily
    Similarity: Contains 1 PpiC domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: PIN4_HUMAN, Q9Y237
    Function: Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent
    AT-rich stretches of double-stranded DNA
    Function: Isoform 2 binds to double-stranded DNA
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)
    Enzyme Number (IUBMB): EC 5.2.1.8 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PIN4
    Sigma-Aldrich shRNA for PIN4
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PIN4
    OriGene shRNA RFP (see all 3): PIN4
    OriGene basic RS shRNA (see all 3): PIN4
    OriGene siRNA (see all 3): PIN4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PIN4 
    miRNA:Sigma-Aldrich microRNA Mimics for PIN4
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PIN4 
    Search SABiosciences for Assays for microRNAs that regulate PIN4

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene untagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene 3'-UTR clone: PIN4 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PIN4 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for PIN4 

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    GO:0003681 bent DNA binding IDA12144781
    GO:0003690 double-stranded DNA binding IDA17875217
    GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA--
    GO:0016853 isomerase activity IEA--
    About this table

    PIN4 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for PIN4 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIN4

    2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364 rRNA processing IMP19369196
    GO:0006457 protein folding IEA--
    About this table

    PIN4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIN4


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PIN4
    Sigma-Aldrich shRNA for PIN4
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PIN4
    OriGene shRNA RFP (see all 3): PIN4
    OriGene basic RS shRNA (see all 3): PIN4
    OriGene siRNA (see all 3): PIN4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PIN4 
    miRNA: Sigma-Aldrich microRNA Mimics for PIN4
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PIN4 
    Search SABiosciences for Assays for microRNAs that regulate PIN4
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene untagged cDNA clones in CMV expression vector (see all 2): PIN4
    OriGene 3'-UTR Clone: PIN4 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PIN4 
    Primers: OriGene genome-wide validated SYBR primer pairs: PIN4
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PIN4: PPH07806A

    REFSEQ mRNAs for PIN4 gene (2 alternative transcripts): 

    NM_001170747.1  NM_006223.3  

    Additional cDNA sequence: 

    AB009690.1 AF143096.1 AK127605.1 BC005234.1 BC070288.1 BC093700.1 BC104653.1 BC111394.1 
    BC112281.1 

    11 DOTS entries:

    DT.212927  DT.99944350  DT.92430198  DT.121296600  DT.97858408  DT.86854415  DT.95267739  DT.95079625 
    DT.92430199  DT.121296565  DT.95170092 

    24/147 AceView cDNA sequences (see all 147):

    BF434549 AI692216 AA318025 AI929422 AW272353 NM_006223 AI632725 CK725069 
    BM969549 AI879437 AI695335 AI308064 BE552230 BF476049 AI692743 AI878885 
    CD364808 AI348662 AW589840 BG575501 BF196032 AA471033 AI929465 AW162154 

    highest scoring ESTs for PIN4:

    AB009690 AA095141 AA318025 AA418383 AA418536 AA452313 AA471033 AA507634 AA527909 AA628534 

    Unigene Cluster for PIN4:

    Protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)
    Hs.655623  [show with all ESTs]
    Unigene Representative Sequence: AK127605


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PIN4

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
    SP1:                                -     -                 -               
    SP2:                                -     -                                 
    SP3:                                -     -     -           -               
    SP4:                                      -                                 
    SP5:                                -                                       

    About this scheme

    ECgene alternative splicing isoforms for PIN4
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373662 ENST00000446576 ENST00000475071 ENST00000373669 ENST00000218432(uc004eam.2)
    ENST00000496835(uc004eao.1) ENST00000439980 ENST00000423432

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PIN4 expression in normal and diseased human tissues

    1  / 2  / 3

    9 probe-sets matching PIN4 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    41616_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AB009690 1.00 0.90 0.95 1
    204572_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006223 0.60 1.00 0.82 1
    204571_x_at2, 3 U133-A 3 1.00 0.85 -- -- BE797213 0.80 1.00 0.91 1
    214224_s_at2, 3 U133-A 3 1.00 0.80 -- -- BE674061 0.60 1.00 0.82 1
    214225_at2, 3 U133-A 1 0.73 1.00 -- -- BE674061 0.60 1.00 0.82 1
    204572_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    204571_x_at2 U133Plus2 3 1.00 0.85 -- -- -- -- -- -- --
    214224_s_at2 U133Plus2 3 1.00 0.80 -- -- -- -- -- -- --
    214225_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    About this table

    PIN4 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PIN4 gene expression
    PIN4 gene electronic northern expression
    PIN4 gene sage expression
    About these images

    CGAP SAGE TAG: GTGGGACCAT

    SOURCE GeneReport for Unigene cluster: Hs.655623

    Expression variation in blood from EXPOLDB for PIN4

    UniProtKB/Swiss-Prot: PIN4_HUMAN, Q9Y237
    Tissue specificity: Isoform 2 is much more stable than isoform 1 (at protein level). Ubiquitous. Isoform 1 and isoform
    2 are expressed in kidney, liver, blood vessel, brain, mammary gland, skeletal muscle, small intestine and
    submandibularis. Isoform 1 transcripts are much more abundant than isoform 2 in each tissue analyzed

    Primers: OriGene genome-wide validated SYBR primer pairs: PIN4
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PIN4: PPH07806A
        SABiosciences Custom PCR Arrays for PIN4 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for PIN4 gene from 5/16 species (see all 16)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PIN41   -- protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, more 90.08(n)
    90.08(a)
    607090  XM_843912.1  XP_849005.1 
    chimpanzee
    (Pan troglodytes)
    PIN41   -- protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, more 96.92(n)
    95.38(a)
    743052  XM_001161176.1  XP_001161176.1 
    mouse
    (Mus musculus)
    Pin41 , 5 X (45.14 cM)5
    protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, more1, 5 94.4(n)1
    96.95(a)1
    697131  NM_027181.11  NP_081457.11 
     AK0103385  AW0124135  (see all 7)
    chicken
    (Gallus gallus)
    PIN41   -- protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, more 76.53(n)
    88(a)
    422134  XM_420136.2  XP_420136.2 
    zebrafish
    (Danio rerio)
    zgc:1100081   -- zgc:110008 72.4(n)
    84.37(a)
    553574  NM_001020553.1  NP_001018389.1 
    About this table        Species with no ortholog for PIN4

    ENSEMBL Gene Tree for PIN4 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Pseudogenes
    4 related pseudogenes



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/209 NCBI SNPs in PIN4 are shown (see all 209)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs114151,2
    C,F,71416721(+) GTGGCC/TGCACA 6 A ref1 syn17Minor allele frequency- T:0.25NA NS EA 497
    rs8789291,2
    C,F,A,H,71474318(-) tctacA/Tggaga 1 -- int111Minor allele frequency- T:0.44MN NS EA NA WA 712
    rs18854831,2
    C71471283(+) AAAGTG/ATATAT 1 -- int17Minor allele frequency- A:0.00NA NS EA 531
    rs18854841,2
    C71482917(+) GTGAAC/TGGGCT 1 -- ut317Minor allele frequency- T:0.00NA EA NS 668
    rs19852871,2
    C,F,A71461523(+) tagccG/Aggcat 1 -- int13Minor allele frequency- A:0.44NA WA 9
    rs23686691,2
    C,A,H71461511(+) aaaatA/Gcaaaa 1 -- int15Minor allele frequency- G:0.00NA WA 12
    rs28873101,2
    --71473402(+) cccggA/Gaggcg 1 -- int10--------
    rs29843541,2
    --71460862(+) AGGTCA/CATATG 1 -- int10--------
    rs29843551,2
    C,F,A,H,71461061(+) aattcA/Ttgtgt 1 -- int17Minor allele frequency- T:0.28NS EA NA WA 425
    rs29843561,2
    C,F,A,H,71478498(+) tcagaA/Ctgcct 1 -- int110Minor allele frequency- C:0.35NS EA NA WA 521
    About this table

    HapMap Linkage Disequilibrium images for PIN4 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PIN4
         3 CNVs: 96754 96753 74005

    QIAGEN SeqTarget long-range PCR primers for resequencing PIN4 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PIN4 for disorders           About GeneDecksing

    OMIM: 300252

    1 PharmGKB disease relationship for PIN4 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Locus Specific Mutation Databases (LSDB): PIN4

    Export disorders and mutations for PIN4 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/21 PubMed articles for PIN4 gene, integrated from 7 sources (see all 21):
    (articles sorted by number of sources associating them with PIN4)
    1. The DNA binding parvulin Par17 is targeted to the mitochondrial matrix by a recently evolved prepeptide uniquely present in Hominidae. (PubMed id 17875217)1, 2, 3 Kessler D.... Mueller J.W. (2007)
    2. Characterization of novel elongated Parvulin isoforms that are ubiquitously expressed in human tissues and originate from alternative transcription initiation. (PubMed id 16522211)1, 2, 3 Mueller J.W.... Bayer P. (2006)
    3. Solution structure of the human parvulin-like peptidyl prolyl cis/trans isomerase, hPar14. (PubMed id 11162102)1, 2, 7 Terada T.... Uchida T. (2001)
    4. Phosphorylation of the N-terminal domain regulates subcellular localization and DNA binding properties of the peptidyl-prolyl cis/trans isomerase hPar14. (PubMed id 12860119)1, 2, 7 Reimer T.... Fischer G. (2003)
    5. Parvulin (Par14), a peptidyl-prolyl cis-trans isomerase, is a novel rRNA processing factor that evolved in the metazoan lineage. (PubMed id 19369196)1, 2 Fujiyama-Nakamura S....Takahashi N. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The N-terminal basic domain of human parvulin hPar14 is responsible for the entry to the nucleus and high-affinity DNA-binding. (PubMed id 12144781)1, 2 Surmacz T.A....Bayer P. (2002)
    8. NMR solution structure of hPar14 reveals similarity to the peptidyl prolyl cis/trans isomerase domain of the mitotic regulator hPin1 but indicates a different functionality of the protein. (PubMed id 10966801)1, 2 Sekerina E.... Bayer P. (2000)
    9. Identification and characterization of a 14 kDa human protein as a novel parvulin-like peptidyl prolyl cis/trans isomerase. (PubMed id 10100858)1, 2 Uchida T.... Rahfeld J.-U. (1999)
    10. Identification of eukaryotic parvulin homologues: a new subfamily of peptidylprolyl cis-trans isomerases. (PubMed id 10364457)1, 2 Rulten S.L.... Kay J.E. (1999)

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    Entrez Gene: 5303 HGNC: 8992 AceView: PIN4 Ensembl:ENSG00000102309 euGenes: HUgn5303
    ECgene: PIN4 H-InvDB: PIN4

    (According to HUGE)
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