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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDCD6IP Gene

protein-coding   GIFtS: 62
GCID: GC03P033839

programmed cell death 6 interacting protein

(Previous name: programmed cell death 6-interacting protein )
 Explore 8 diseases affiliated with
PDCD6IP via our new
 Human Malady Compendium 
Biological research products
for PDCD6IP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Programmed Cell Death 6 Interacting Protein1 2     DRIP42
AIP11 2 3 5     HP952
ALIX2 3 5     ALG-2 Interacting Protein 12
Programmed Cell Death 6-Interacting Protein1 2     Apoptosis-Linked Gene 2-Interacting Protein X2
Hp951 3     Dopamine Receptor Interacting Protein 42
PDCD6-Interacting Protein2 3     ALG-2-Interacting Protein 13
KIAA13753 5     ALG-2-Interacting Protein X3
Alix1     

External Ids:    HGNC: 87661   Entrez Gene: 100152   Ensembl: ENSG000001702487   OMIM: 6080745   UniProtKB: Q8WUM43   
ORGUL members:         
NONCODE:n408055    

Export aliases for PDCD6IP gene to outside databases

Previous GC identifers: GC03P033126 GC03P033686 GC03P033811 GC03P033814 GC03P033781


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

Entrez Gene summary for PDCD6IP:
This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in
intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that
overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the
PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to
endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and
endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell
death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Related pseudogenes have been identified on chromosome 15. (provided by RefSeq, Jan 2012)

UniProtKB/Swiss-Prot: PDC6I_HUMAN, Q8WUM4
Function: Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB)
for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting
membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal
membranes. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. The ESCRT
machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of
cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Appears to be an adapter for a subset of
ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis. Involved
in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function implies the
interaction with CHMP4B. May play a role in the regulation of both apoptosis and cell proliferation

Gene Wiki entry for PDCD6IP


(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDCD6IP gene promoter:
         GATA-3   AML1a   Pax-5   Egr-1   Arnt   GATA-2   GATA-1   AREB6   HOXA5   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): PDCD6IP promoter sequence
   Search SABiosciences Chromatin IP Primers for PDCD6IP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDCD6IP


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

Entrez Gene cytogenetic band: 3p22.3   Ensembl cytogenetic band:  3p22.3   HGNC cytogenetic band: 3p22.3

PDCD6IP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDCD6IP gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P033839:  view genomic region     (about GC identifiers)

Start:
33,839,844 bp from pter      End:
33,911,195 bp from pter
Size:
71,352 bases      Orientation:
plus strand

(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: PDC6I_HUMAN, Q8WUM4 (See protein sequence)
Recommended Name: Programmed cell death 6-interacting protein  
Size: 868 amino acids; 96023 Da
Subunit: Interacts with SH3KBP1. Interacts with PDCD6 and TSG101 in a calcium-dependent manner. Interacts with and
SGSM3. Self-associates. Interacts with CHMP4A; the interaction is direct. Interacts with CHMP4B; the interaction is
direct. Interacts with CHMP4C; the interaction is direct. Interacts with HIV-1 p6. Interacts with EIAV p9; the
interaction has been shown in vitro. Interacts with CEP55; the interaction is direct; CEP55 binds PDCD6IP in a 2:1
stoechiometry. May interact with PDGFRB. Interacts with SH3GL1 and SH3GL2. Interacts with murine leukemia virus Gag
polyprotein (via LYPX(n)L motif). Interacts with murine leukemia virus Gag polyprotein (via LYPX(n)L motif)
Subcellular location: Cytoplasm, cytosol. Melanosome. Cytoplasm, cytoskeleton, centrosome. Note=Identified by mass
spectrometry in melanosome fractions from stage I to stage IV. Colocalized with CEP55 in the midbody during
cytokinesis. Colocalized with CEP55 at centrosomes of non-dividing cells
Sequence caution: Sequence=BAA92092.1; Type=Erroneous initiation;
6/14 PDB 3D structures from and Proteopedia for PDCD6IP (see all 14):
2OEV (3D)        2OEW (3D)        2OEX (3D)        2OJQ (3D)        2R02 (3D)        2R03 (3D)    
Secondary accessions: E9PFU1 Q6NUS1 Q9BX86 Q9NUN0 Q9P2H2 Q9UKL5
Alternative splicing: 2 isoforms:  Q8WUM4-1   Q8WUM4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDCD6IP: NX_Q8WUM4

Post-translational modifications:

  • May be phosphorylated on tyrosine residues by activated PDGFRB1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WUM4

  • PDCD6IP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001155901.1  NP_001243121.1  NP_037506.2  

    ENSEMBL proteins: 
     ENSP00000307387   ENSP00000393777   ENSP00000398895   ENSP00000406693   ENSP00000415150  
     ENSP00000411825  

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    Uscn Proteins for PDCD6IP

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005815microtubule organizing center IEA--
    GO:0005829cytosol IEA--
    GO:0042470melanosome IEA--


    PDCD6IP for ontologies           About GeneDecksing



    PDCD6IP Antibody Products: 
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    Uscn ELISAs and CLIAs for PDCD6IP


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

    PDCD6IP for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004328 BRO1_dom
     IPR025304 ALIX_V_dom

    Graphical View of Domain Structure for InterPro Entry Q8WUM4

    ProtoNet protein and cluster: Q8WUM4

    1 Blocks protein family: IPB004328 BRO1-like domain

    UniProtKB/Swiss-Prot: PDC6I_HUMAN, Q8WUM4
    Similarity: Contains 1 BRO1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PDC6I_HUMAN, Q8WUM4
    Function: Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB)
    for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting
    membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal
    membranes. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. The ESCRT
    machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of
    cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Appears to be an adapter for a subset of
    ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis. Involved
    in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function implies the
    interaction with CHMP4B. May play a role in the regulation of both apoptosis and cell proliferation

    miRNA
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    hsa-miR-124* hsa-miR-549 hsa-miR-607 hsa-miR-15a hsa-miR-485-3p hsa-miR-4325 hsa-miR-4293 hsa-miR-3148
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    Clone
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0017124SH3 domain binding ----
    GO:0046983protein dimerization activity ----
    GO:0048306calcium-dependent protein binding IPI18256029


    PDCD6IP for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PDCD6IP:
     Decreased DCP1a protein expres 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Adhesion
    Adhesion1.00
    2Endocytosis
    Endocytosis1.00
    3Apoptosis and Autophagy
    Apoptosis and Autophagy1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for PDCD6IP
        Apoptosis and Autophagy
    Adhesion


    1         Kegg Pathway  (Kegg details for PDCD6IP):
        Endocytosis


    PDCD6IP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDCD6IP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/690 Interacting proteins for PDCD6IP (Q8WUM41, 2, 3 ENSP000003073874) via UniProtKB, MINT, STRING, and/or I2D (see all 690)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CEP55Q53EZ42, 3, ENSP000003605404MINT-6173613 MINT-6173720 MINT-6173792 MINT-6175173 MINT-6173644 MINT-6169566 MINT-6173415 MINT-6173556 I2D: score=2 STRING: ENSP00000360540
    HCKP086312, 3, ENSP000003650124MINT-8109689 MINT-8374796 MINT-8374708 MINT-8374882 I2D: score=1 STRING: ENSP00000365012
    TSG101Q998162, 3, ENSP000002519684MINT-6173720 MINT-7945693 I2D: score=5 STRING: ENSP00000251968
    EGFRP005332, 3, ENSP000002754934MINT-68514 MINT-68513 I2D: score=3 STRING: ENSP00000275493
    CD2APQ9Y5K62, 3, ENSP000003522644MINT-6173759 MINT-6173665 I2D: score=2 STRING: ENSP00000352264
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007049cell cycle IEA--
    GO:0015031protein transport IEA--
    GO:0019048virus-host interaction IEA--
    GO:0044419interspecies interaction between organisms ----


    PDCD6IP for ontologies           About GeneDecksing



    (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

    PDCD6IP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDCD6IP

    1 HMDB Compound for PDCD6IP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    2 Novoseek chemical compound relationships for PDCD6IP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 18.4 5 15557335 (2), 11095967 (1), 19016654 (1)
    calcium 0 4 19143631 (2), 11525164 (1)

    Search CenterWatch for drugs/clinical trials and news about PDCD6IP / PDC6I 

    (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, 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 PDCD6IP gene (3 alternative transcripts): 
    NM_001162429.2  NM_001256192.1  NM_013374.5  

    Unigene Cluster for PDCD6IP:

    Programmed cell death 6 interacting protein
    Hs.475896  [show with all ESTs]
    Unigene Representative Sequence: NM_001162429
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307296 ENST00000435909 ENST00000430877 ENST00000413073 ENST00000477798
    ENST00000498147 ENST00000484478 ENST00000494810 ENST00000459659 ENST00000412887
    ENST00000482561 ENST00000487821 ENST00000465122 ENST00000462070 ENST00000495235
    ENST00000489869 ENST00000473593 ENST00000457054(uc011axv.2 uc003cfy.3 uc003cfx.3 uc011axw.2)


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    hsa-miR-124* hsa-miR-549 hsa-miR-607 hsa-miR-15a hsa-miR-485-3p hsa-miR-4325 hsa-miR-4293 hsa-miR-3148
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    Additional cDNA sequence: 

    AB037796.1 AF151793.1 AF250394.1 AF349951.1 AK002122.1 AK298727.1 BC020066.1 BC068454.1 
    BT007367.1 GQ131806.1 

    20 DOTS entries:

    DT.117496  DT.91717667  DT.91961435  DT.303523  DT.100009113  DT.100809586  DT.100887563  DT.120875303 
    DT.70100905  DT.91763936  DT.100887559  DT.100887553  DT.120875244  DT.120875252  DT.121053954  DT.121067077 
    DT.86855509  DT.91949038  DT.95373942  DT.307440 

    24/554 AceView cDNA sequences (see all 554):

    BP356685 BP356807 AI016197 BU633599 AA364351 BG259764 BG109730 AI889591 
    BQ919180 AA262641 BM851537 AA729147 AI346505 BX952305 BG741896 BU543761 
    AA569878 BU165197 AA777248 BQ892829 CD366446 CB164362 AI339801 BQ024882 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for PDCD6IP (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
    SP1:                                                                                                                                -                           
    SP2:                                                                                                                                -                 -         
    SP3:                                                                                                                                                  -         
    SP4:                                -     -                                                                                                                     
    SP5:                                                                                                                                -                 -         

    ExUns: 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b
    SP1:        -     -                                                         
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PDCD6IP

    (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

    PDCD6IP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTGGGACAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PDCD6IP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PDCD6IP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDCD6IP

    SOURCE GeneReport for Unigene cluster: Hs.475896
        SABiosciences Custom PCR Arrays for PDCD6IP
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDCD6IP gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PDCD6IP1 programmed cell death 6 interacting protein 79.17(n)
    85.5(a)
      420725  NM_001030993.1  NP_001026164.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDCD6IP6
    --
    84(a)
    1 ↔ 1
    GL343324.1(1160999-1204228)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980952 putative signal tranduction protein Xp95 77.15(n)    AF115497.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb70d032 Danio rerio cDNA clone MGC63638 IMAGE5604723, complete more 75.86(n)    BC055177.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG128763
    ALiX1
    signal transducer3
    ALG-2 interacting protein X1
    43(a)3
    50.32(n)1
    43.6(a)1
      98B13
    433301  NM_143325.21  NP_651582.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alx-11 Protein ALX-1 49.76(n)
    41.16(a)
      176410  NM_001027542.1  NP_001022713.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RIM20(YOR275C)4
    RIM201
    Protein involved in proteolytic activation of Rim1 more4
    Rim20p1
    42.32(n)1
    29.13(a)1
      15(841069-839084)4
    8544491, 4  NP_014918.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G151301 programmed cell death 6-interacting protein 43.17(n)
    29.64(a)
      838077  NM_101381.2  NP_172965.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g04953001 hypothetical protein 43.41(n)
    31.18(a)
      4348999  NM_001071485.1  NP_001064950.2 


    ENSEMBL Gene Tree for PDCD6IP (if available)
    TreeFam Gene Tree for PDCD6IP (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDCD6IP gene
    PTPN232  
    1 SIMAP similar gene for PDCD6IP using alignment to 6 protein entries:     PDC6I_HUMAN (see all proteins):
    DRIP4

    PDCD6IP for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PDCD6IP
    PGOHUM00000258815 PGOHUM00000258930


    (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

    10/1156 NCBI SNPs in PDCD6IP are shown (see all 1156    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1146896551,2
    --33838093(+) TTTGCC/GTCCTT 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs98434881,2
    C,F,H,--33838124(+) CTAATT/GTTTTC 3 -- us2k1 trp318Minor allele frequency- G:0.30NS EA NA WA 2336
    rs1893546831,2
    --33838142(+) ATCAGC/TCAAGG 3 -- us2k10--------
    rs1809386101,2
    --33838192(+) AAACAA/TAAATT 3 -- us2k10--------
    rs728599851,2
    C,F,--33838194(+) ACAAAA/CATTTT 3 -- us2k14Minor allele frequency- C:0.10WA CSA 123
    rs795936051,2
    C,--33838299(+) AGTTCG/AAGACC 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1863033271,2
    --33838312(+) CCGGGC/TCAACA 3 -- us2k10--------
    rs749191151,2
    C,--33838545(+) GAAAGT/CAGTCT 3 -- us2k12Minor allele frequency- C:0.07NA 122
    rs1448250911,2
    --33838580(+) AAAGAC/TAGGCA 3 -- us2k10--------
    rs1395319461,2
    --33838594(+) ACAAAC/GAAAAA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDCD6IP (33839844 - 33911195 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PDCD6IP: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PDCD6IP for disorders           About GeneDecksing

    OMIM gene information: 608074    OMIM disorders: --

    8 diseases for PDCD6IP:    About MalaCards
    herpes simplex    hepatitis b    neurodegeneration    immunodeficiency
    hepatitis    cholesterol    leukemia    neuronitis

    2 Novoseek disease relationships for PDCD6IP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 2 18936101 (1), 19143631 (1)
    immunodeficiency 0 1 15276209 (1)

    Human Genome Epidemiology (HuGE) Navigator: PDCD6IP (2 documents)

    Export disorders for PDCD6IP 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)
    About This Section

    PubMed articles for PDCD6IP gene, integrated from 9 sources (see all 177):
    (articles sorted by number of sources associating them with PDCD6IP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PubMed id 17853893)1, 2, 9 Morita E....Sundquist W.I. (2007)
    2. The ALG-2-interacting protein Alix associates with CHMP4b, a human homologue of yeast Snf7 that is involved in multivesicular body sorting. (PubMed id 12860994)1, 2, 9 Katoh K.... Maki M. (2003)
    3. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PubMed id 14678797)1, 2, 9 Katoh K....Maki M. (2004)
    4. Penta-EF-hand protein ALG-2 functions as a Ca2+-dependent adaptor that bridges Alix and TSG101. (PubMed id 19520058)1, 2, 9 Okumura M.... Maki M. (2009)
    5. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (2004)
    6. Structural basis for Ca2+ -dependent formation of ALG-2/Alix peptide complex: Ca2+/EF3-driven arginine switch mechanism. (PubMed id 18940611)1, 2, 9 Suzuki H....Maki M. (2008)
    7. ALIX-CHMP4 interactions in the human ESCRT pathway. (PubMed id 18511562)1, 2, 9 McCullough J....Hill C.P. (2008)
    8. Identification of Alix-type and non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants. (PubMed id 18256029)1, 2, 9 Shibata H....Maki M. (2008)
    9. The protein network of HIV budding. (PubMed id 14505570)1, 2, 9 von Schwedler U.K.... Sundquist W.I. (2003)
    10. Midbody targeting of the ESCRT machinery by a noncanonical coiled coil in CEP55. (PubMed id 18948538)1, 2 Lee H.H.... Hurley J.H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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)
    About This Section
    Entrez Gene: 10015 HGNC: 8766 AceView: PDCD6IP Ensembl:ENSG00000170248 euGenes: HUgn10015
    ECgene: PDCD6IP Kegg: 10015 H-InvDB: PDCD6IP

    (According to HUGE)
    About This Section
    HUGE: KIAA1375

    (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
    NameDescription
    PharmGKB entry for PDCD6IP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDCD6IP gene:
    Search GeneIP for patents involving PDCD6IP

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



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