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

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 several structures, including branchial arch; facial prominence; gut; limb bud; and neural fold. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly. Orthologous to human PDCD6IP (programmed cell death 6 interacting protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 72.0), colon adult (RPKM 53.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alix is required for activity-dependent bulk endocytosis at brain synapses.
Title: Alix is required for activity-dependent bulk endocytosis at brain synapses.
AIP1 and Cofilin control the actin dynamics to modulate the asymmetric division and cytokinesis in mouse oocytes.
Title: AIP1 and Cofilin control the actin dynamics to modulate the asymmetric division and cytokinesis in mouse oocytes.
Alix-dependent, clathrin independent endocytosis is essential for controlling brain size.
Title: Alix is required during development for normal growth of the mouse brain.
By interacting with F-actin, the Par complex and ZO-1, Alix ensures the formation and maintenance of the apically restricted actomyosin-tight junction complex.
Title: Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier.
Alix acts in concert with endophilin A to promote clathrin-independent endocytosis of cholera toxin and to regulate cell migration.
Title: ALG-2 interacting protein-X (Alix) is essential for clathrin-independent endocytosis and signaling.
farnesylation of K-Ras was required for its packaging within extracellular nanovesicles, yet expressing a K-Ras farnesylation mutant did not decrease the number of nanovesicles or the amount of Alix protein released per cell.
Title: Secreted Glioblastoma Nanovesicles Contain Intracellular Signaling Proteins and Active Ras Incorporated in a Farnesylation-dependent Manner.
ATG12-ATG3 interacts with Alix to promote basal autophagic flux and late endosome function.
Title: ATG12-ATG3 interacts with Alix to promote basal autophagic flux and late endosome function.
We have provided evidence that a promigratory function of galectin-3 may be mediated through interaction with its binding partner Alix.
Title: Galectin-3 regulates intracellular trafficking of EGFR through Alix and promotes keratinocyte migration.
Identify key role for syndecan-syntenin-ALIX in membrane transport and signalling processes.
Title: Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.
the Ozz-E3 ligase regulates Alix at sites where the actin cytoskeleton undergoes remodeling.
Title: Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135961 (e-PCR)
- UniSTS:209957

A005P37 (e-PCR)
- UniSTS:27497

RH125957 (e-PCR)
- UniSTS:162669

C76364 (e-PCR)
- UniSTS:159926

AI480591 (e-PCR)
- UniSTS:159927

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 more info	PubMed

General protein information

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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)

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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)

NM_001164677.1 → NP_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:365 → 703

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

cd09240
Location:2 → 350

BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains

pfam12273
Location:821 → 874

RCR; Chitin synthesis regulation, resistance to Congo red

pfam13949
Location:417 → 706

ALIX_LYPXL_bnd; ALIX V-shaped domain binding to HIV
NM_001164678.1 → NP_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:360 → 698

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

cd09240
Location:2 → 345

BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains

pfam12273
Location:819 → 872

RCR; Chitin synthesis regulation, resistance to Congo red

pfam13949
Location:412 → 701

ALIX_LYPXL_bnd; ALIX V-shaped domain binding to HIV
NM_011052.2 → NP_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:360 → 698

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

cd09240
Location:2 → 345

BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains

pfam12273
Location:816 → 869

RCR; Chitin synthesis regulation, resistance to Congo red

pfam13949
Location:412 → 701

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

113480812..113537457 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q6ZPS9

Conserved Domains (3) summary

cd09235
Location:365 → 703

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

cd09240
Location:2 → 350

BRO1_Alix; Protein-interacting, N-terminal, Bro1-like domain of mammalian Alix and related domains

smart00818
Location:823 → 877

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
XM_030244125.2 → XP_030099985.1 programmed cell death 6-interacting protein isoform X3

Conserved Domains (3) summary

cd09235
Location:170 → 508

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

smart00818
Location:628 → 682

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

cl14649
Location:1 → 155

BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains
XM_036154688.1 → XP_036010581.1 programmed cell death 6-interacting protein isoform X2

Conserved Domains (3) summary

cd09235
Location:175 → 513

V_Alix; Middle V-domain of mammalian Alix and related domains are dimerization and protein interaction modules

smart00818
Location:633 → 687

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

cl14649
Location:1 → 160

BRO1_Alix_like; Protein-interacting Bro1-like domain of mammalian Alix and related domains