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Aliases for PDCD6IP Gene

Aliases for PDCD6IP Gene

  • Programmed Cell Death 6 Interacting Protein 2 3
  • ALG-2-Interacting Protein X 3 4
  • PDCD6-Interacting Protein 3 4
  • AIP1 3 4
  • HP95 3 4
  • ALIX 3 4
  • Apoptosis-Linked Gene 2-Interacting Protein X 3
  • Programmed Cell Death 6-Interacting Protein 2
  • Dopamine Receptor Interacting Protein 4 3
  • ALG-2 Interacting Protein X 2
  • ALG-2 Interacting Protein 1 3
  • ALG-2-Interacting Protein 1 4
  • KIAA1375 4
  • DRIP4 3

External Ids for PDCD6IP Gene

Previous GeneCards Identifiers for PDCD6IP Gene

  • GC03P033126
  • GC03P033686
  • GC03P033811
  • GC03P033814
  • GC03P033781

Summaries for PDCD6IP Gene

Entrez Gene Summary for PDCD6IP Gene

  • 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]

GeneCards Summary for PDCD6IP Gene

PDCD6IP (Programmed Cell Death 6 Interacting Protein) is a Protein Coding gene. Diseases associated with PDCD6IP include adult neuronal ceroid lipofuscinosis and hiv-1. Among its related pathways are Infectious disease and PAK Pathway. GO annotations related to this gene include protein homodimerization activity and SH3 domain binding. An important paralog of this gene is RHPN1.

UniProtKB/Swiss-Prot for PDCD6IP Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDCD6IP Gene

Genomics for PDCD6IP Gene

Regulatory Elements for PDCD6IP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PDCD6IP Gene

Chromosome:
3
Start:
33,798,352 bp from pter
End:
33,869,707 bp from pter
Size:
71,356 bases
Orientation:
Plus strand

Genomic View for PDCD6IP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDCD6IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDCD6IP Gene

Proteins for PDCD6IP Gene

  • Protein details for PDCD6IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUM4-PDC6I_HUMAN
    Recommended name:
    Programmed cell death 6-interacting protein
    Protein Accession:
    Q8WUM4
    Secondary Accessions:
    • C5MQH7
    • E9PFU1
    • Q6NUS1
    • Q9BX86
    • Q9NUN0
    • Q9P2H2
    • Q9UKL5

    Protein attributes for PDCD6IP Gene

    Size:
    868 amino acids
    Molecular mass:
    96023 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA92092.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDCD6IP Gene

    Alternative splice isoforms for PDCD6IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDCD6IP Gene

Proteomics data for PDCD6IP Gene at MOPED

Post-translational modifications for PDCD6IP Gene

  • May be phosphorylated on tyrosine residues by activated PDGFRB.
  • Ubiquitination at Lys 23, Lys 350, Lys 501, Lys 640, Lys 707, and Lys 751
  • Modification sites at PhosphoSitePlus

Other Protein References for PDCD6IP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PDCD6IP (Alix)

No data available for DME Specific Peptides for PDCD6IP Gene

Domains & Families for PDCD6IP Gene

Protein Domains for PDCD6IP Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WUM4

UniProtKB/Swiss-Prot:

PDC6I_HUMAN :
  • Contains 1 BRO1 domain.
Domain:
  • Contains 1 BRO1 domain.
genes like me logo Genes that share domains with PDCD6IP: view

No data available for Gene Families for PDCD6IP Gene

Function for PDCD6IP Gene

Molecular function for PDCD6IP Gene

UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11883939
GO:0017124 SH3 domain binding IEA --
GO:0031871 proteinase activated receptor binding IPI 22547407
GO:0042803 protein homodimerization activity IPI 14505570
GO:0046983 protein dimerization activity --
genes like me logo Genes that share ontologies with PDCD6IP: view
genes like me logo Genes that share phenotypes with PDCD6IP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDCD6IP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PDCD6IP Gene

Localization for PDCD6IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDCD6IP Gene

Cytoplasm, cytosol. Melanosome. Cytoplasm, cytoskeleton, microtubule organizing center, 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDCD6IP Gene COMPARTMENTS Subcellular localization image for PDCD6IP gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
endoplasmic reticulum 4
plasma membrane 4
endosome 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IDA 19706535
GO:0005737 cytoplasm IDA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with PDCD6IP: view

Pathways & Interactions for PDCD6IP Gene

genes like me logo Genes that share pathways with PDCD6IP: view

Pathways by source for PDCD6IP Gene

2 Cell Signaling Technology pathways for PDCD6IP Gene
1 KEGG pathway for PDCD6IP Gene

Gene Ontology (GO) - Biological Process for PDCD6IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006915 apoptotic process IEA --
GO:0006997 NOT nucleus organization IMP 20616062
GO:0007080 NOT mitotic metaphase plate congression IMP 20616062
GO:0010824 regulation of centrosome duplication IMP 20616062
genes like me logo Genes that share ontologies with PDCD6IP: view

No data available for SIGNOR curated interactions for PDCD6IP Gene

Drugs & Compounds for PDCD6IP Gene

(2) Drugs for PDCD6IP Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
tyrosine Nutra 547
genes like me logo Genes that share compounds with PDCD6IP: view

Transcripts for PDCD6IP Gene

Unigene Clusters for PDCD6IP Gene

Programmed cell death 6 interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDCD6IP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDCD6IP Gene

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: - -
SP6: -
SP7: - -
SP8: -
SP9:
SP10: - - - -
SP11: -
SP12:
SP13: - - - -

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PDCD6IP Gene

GeneLoc Exon Structure for
PDCD6IP
ECgene alternative splicing isoforms for
PDCD6IP

Expression for PDCD6IP Gene

mRNA expression in normal human tissues for PDCD6IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDCD6IP Gene

This gene is overexpressed in Lymph node (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDCD6IP Gene



SOURCE GeneReport for Unigene cluster for PDCD6IP Gene Hs.475896

genes like me logo Genes that share expression patterns with PDCD6IP: view

Protein tissue co-expression partners for PDCD6IP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PDCD6IP Gene

Orthologs for PDCD6IP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDCD6IP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDCD6IP 35
  • 91.87 (n)
  • 96.11 (a)
PDCD6IP 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDCD6IP 35
  • 93.7 (n)
  • 97.14 (a)
PDCD6IP 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdcd6ip 35
  • 88.28 (n)
  • 94.62 (a)
Pdcd6ip 16
Pdcd6ip 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDCD6IP 35
  • 99.58 (n)
  • 99.88 (a)
PDCD6IP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdcd6ip 35
  • 87.89 (n)
  • 93.77 (a)
oppossum
(Monodelphis domestica)
Mammalia PDCD6IP 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDCD6IP 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDCD6IP 35
  • 78.02 (n)
  • 83.43 (a)
PDCD6IP 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDCD6IP 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdcd6ip 35
  • 72.93 (n)
  • 75.87 (a)
Str.3976 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398095 35
zebrafish
(Danio rerio)
Actinopterygii pdcd6ip 35
  • 67.13 (n)
  • 72.66 (a)
wufb70d03 35
pdcd6ip 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12876 37
  • 43 (a)
ALiX 35
  • 50.24 (n)
  • 43.69 (a)
ALiX 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005531 35
  • 48.3 (n)
  • 42.48 (a)
worm
(Caenorhabditis elegans)
Secernentea alx-1 35
  • 50.7 (n)
  • 42.7 (a)
alx-1 36
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER342C 35
  • 43.76 (n)
  • 30.97 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07348g 35
  • 43.09 (n)
  • 27.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM20 35
  • 43.62 (n)
  • 31.33 (a)
RIM20 36
  • 26 (a)
OneToMany
RIM20 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G15130 35
  • 43.27 (n)
  • 28.95 (a)
rice
(Oryza sativa)
Liliopsida Os10g0495300 35
  • 43.24 (n)
  • 29.87 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05876 35
  • 40.78 (n)
  • 27.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for PDCD6IP:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDCD6IP Gene

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

Paralogs for PDCD6IP Gene

Paralogs for PDCD6IP Gene

(1) SIMAP similar genes for PDCD6IP Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for PDCD6IP Gene

genes like me logo Genes that share paralogs with PDCD6IP: view

Variants for PDCD6IP Gene

Sequence variations from dbSNP and Humsavar for PDCD6IP Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs3436 -- 33,869,484(-) CTTTC(C/T)TTAAA utr-variant-3-prime
rs1127732 - 33,864,074(+) GTCCT(C/T)ACCAG reference, missense
rs1139009 -- 33,867,974(+) GGTTT(A/T)AAAAT utr-variant-3-prime
rs1544036 -- 33,826,305(-) AGCAG(C/T)GGGGG intron-variant
rs1852934 -- 33,852,377(-) GATTT(C/T)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDCD6IP Gene

Variant ID Type Subtype PubMed ID
nsv522881 CNV Gain 19592680
nsv3758 CNV Insertion 18451855

Variation tolerance for PDCD6IP Gene

Residual Variation Intolerance Score: 42.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.82; 98.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDCD6IP Gene

HapMap Linkage Disequilibrium report
PDCD6IP
Human Gene Mutation Database (HGMD)
PDCD6IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDCD6IP Gene

Disorders for PDCD6IP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PDCD6IP Gene - From: GeneCards

Disorder Aliases PubMed IDs
adult neuronal ceroid lipofuscinosis
  • adult ncl
hiv-1
  • aids, slow progression to
- elite association

Relevant External Links for PDCD6IP

Genetic Association Database (GAD)
PDCD6IP
Human Genome Epidemiology (HuGE) Navigator
PDCD6IP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDCD6IP
genes like me logo Genes that share disorders with PDCD6IP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDCD6IP Gene

Publications for PDCD6IP Gene

  1. A crescent-shaped ALIX dimer targets ESCRT-III CHMP4 filaments. (PMID: 19523902) Pires R. … Weissenhorn W. (Structure 2009) 23 67
  2. The CHMP4b- and Src-docking sites in the Bro1 domain are autoinhibited in the native state of Alix. (PMID: 19016654) Zhou X. … Kuang J. (Biochem. J. 2009) 23 67
  3. The mechanism of Ca2+-dependent recognition of Alix by ALG-2: insights from X-ray crystal structures. (PMID: 19143629) Suzuki H. … Maki M. (Biochem. Soc. Trans. 2009) 23 67
  4. Penta-EF-hand protein ALG-2 functions as a Ca2+-dependent adaptor that bridges Alix and TSG101. (PMID: 19520058) Okumura M. … Maki M. (Biochem. Biophys. Res. Commun. 2009) 23 67
  5. Alix and ALG-2 make a link between endosomes and neuronal death. (PMID: 19143631) Mahul-Mellier A.L. … Sadoul R. (Biochem. Soc. Trans. 2009) 23 67

Products for PDCD6IP Gene

Sources for PDCD6IP Gene

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