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    Pdcd6ip programmed cell death 6 interacting protein [ Mus musculus (house mouse) ]

    Gene ID: 18571, updated on 18-Sep-2024

    Summary

    Official Symbol
    Pdcd6ipprovided by MGI
    Official Full Name
    programmed cell death 6 interacting proteinprovided by MGI
    Primary source
    MGI:MGI:1333753
    See related
    Ensembl:ENSMUSG00000032504 AllianceGenome:MGI:1333753
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Aip1; Alix; Eig2; mKIAA1375
    Summary
    Enables identical protein binding activity and protein dimerization activity. Involved in several processes, including actomyosin contractile ring assembly; bicellular tight junction assembly; and maintenance of epithelial cell apical/basal polarity. Located in actomyosin; cytosol; and extracellular exosome. Is expressed in hindgut; midgut; rectum; and thymus primordium. Orthologous to human PDCD6IP (programmed cell death 6 interacting protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 72.0), colon adult (RPKM 53.1) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Pdcd6ip in Genome Data Viewer
    Location:
    9 F3; 9 64.03 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (113480812..113537457, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (113651744..113708279, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36686 Neighboring gene predicted gene, 36745 Neighboring gene STARR-seq mESC enhancer starr_25326 Neighboring gene STARR-seq mESC enhancer starr_25327 Neighboring gene STARR-seq mESC enhancer starr_25328 Neighboring gene predicted gene, 38623 Neighboring gene STARR-seq mESC enhancer starr_25329 Neighboring gene CLIP associating protein 2 Neighboring gene STARR-seq mESC enhancer starr_25330 Neighboring gene predicted gene, 25059

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables proteinase activated receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in actomyosin contractile ring assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular exosome biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in midbody abscission ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multivesicular body sorting pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of exosomal secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of extracellular exosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of centrosome duplication ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of extracellular exosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in viral budding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in viral budding via host ESCRT complex ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Flemming body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Flemming body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum exit site ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in immunological synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myelin sheath HDA PubMed 

    General protein information

    Preferred Names
    programmed cell death 6-interacting protein
    Names
    ALG-2-interacting protein 1
    ALG-2-interacting protein X
    Alg2-interacting protein 1
    Alg2-interacting protein X
    E2f1-inducible protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001164677.1NP_001158149.1  programmed cell death 6-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_001158149.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC167246, AK029827, AK031256, AK157704, AK167574, BE623112, BM899382
      Consensus CDS
      CCDS52947.1
      UniProtKB/TrEMBL
      Q6ZPS9
      Related
      ENSMUSP00000107492.4, ENSMUST00000111861.4
      Conserved Domains (4) summary
      cd09235
      Location:365703
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      cd09240
      Location:2350
      BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains
      pfam12273
      Location:821874
      RCR; Chitin synthesis regulation, resistance to Congo red
      pfam13949
      Location:417706
      ALIX_LYPXL_bnd; ALIX V-shaped domain binding to HIV
    2. NM_001164678.1NP_001158150.1  programmed cell death 6-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_001158150.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC167246, AK029827, AK157704, AK167574, BE623112, BM899382, CX210461
      UniProtKB/TrEMBL
      Q6ZPS9, Q80Y09
      Conserved Domains (4) summary
      cd09235
      Location:360698
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      cd09240
      Location:2345
      BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains
      pfam12273
      Location:819872
      RCR; Chitin synthesis regulation, resistance to Congo red
      pfam13949
      Location:412701
      ALIX_LYPXL_bnd; ALIX V-shaped domain binding to HIV
    3. NM_011052.2NP_035182.2  programmed cell death 6-interacting protein isoform 3

      See identical proteins and their annotated locations for NP_035182.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC167246, AK029827, AK157704, AK167574, BE623112, BM899382
      Consensus CDS
      CCDS23588.1
      UniProtKB/Swiss-Prot
      O88695, O89014, Q3TED2, Q8BSL8, Q8R0H5, Q99LR3, Q9QZN8, Q9WU78
      UniProtKB/TrEMBL
      Q6ZPS9
      Related
      ENSMUSP00000035086.7, ENSMUST00000035086.13
      Conserved Domains (4) summary
      cd09235
      Location:360698
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      cd09240
      Location:2345
      BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains
      pfam12273
      Location:816869
      RCR; Chitin synthesis regulation, resistance to Congo red
      pfam13949
      Location:412701
      ALIX_LYPXL_bnd; ALIX V-shaped domain binding to HIV

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      113480812..113537457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242941.4XP_011241243.1  programmed cell death 6-interacting protein isoform X1

      UniProtKB/TrEMBL
      Q6ZPS9
      Conserved Domains (3) summary
      cd09235
      Location:365703
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      cd09240
      Location:2350
      BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains
      smart00818
      Location:823877
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
    2. XM_030244125.2XP_030099985.1  programmed cell death 6-interacting protein isoform X3

      Conserved Domains (3) summary
      cd09235
      Location:170508
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      smart00818
      Location:628682
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
      cl14649
      Location:1155
      BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains
    3. XM_036154688.1XP_036010581.1  programmed cell death 6-interacting protein isoform X2

      Conserved Domains (3) summary
      cd09235
      Location:175513
      V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules
      smart00818
      Location:633687
      Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
      cl14649
      Location:1160
      BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains