• Gene id: 10015

Gene Summary

• Gene Symbol: PDCD6IP   Gene   UCSC   Ensembl
• Aliases: AIP1, ALIX, DRIP4, HP95
• Gene name: programmed cell death 6 interacting protein
• Alternate names: programmed cell death 6-interacting protein, ALG-2 interacting protein 1, ALG-2-interacting protein X, PDCD6-interacting protein, apoptosis-linked gene 2-interacting protein X, dopamine receptor interacting protein 4,
• Gene location: 3p22.3 (33798570: 33869706)     Exons: 20     NC_000003.12
• Gene summary(Entrez): 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 prote
• OMIM: 608074

Protein Summary

• Protein general information: Q8WUM4  
  • Name: Programmed cell death 6 interacting protein (PDCD6 interacting protein) (ALG 2 interacting protein 1) (ALG 2 interacting protein X) (Hp95)
  • Length: 868  
  • Mass: 96023
• Sequence:

  MATFISVQLKKTSEVDLAKPLVKFIQQTYPSGGEEQAQYCRAAEELSKLRRAAVGRPLDKHEGALETLLRYYDQI
  CSIEPKFPFSENQICLTFTWKDAFDKGSLFGGSVKLALASLGYEKSCVLFNCAALASQIAAEQNLDNDEGLKIAA
  KHYQFASGAFLHIKETVLSALSREPTVDISPDTVGTLSLIMLAQAQEVFFLKATRDKMKDAIIAKLANQAADYFG
  DAFKQCQYKDTLPKEVFPVLAAKHCIMQANAEYHQSILAKQQKKFGEEIARLQHAAELIKTVASRYDEYVNVKDF
  SDKINRALAAAKKDNDFIYHDRVPDLKDLDPIGKATLVKSTPVNVPISQKFTDLFEKMVPVSVQQSLAAYNQRKA
  DLVNRSIAQMREATTLANGVLASLNLPAAIEDVSGDTVPQSILTKSRSVIEQGGIQTVDQLIKELPELLQRNREI
  LDESLRLLDEEEATDNDLRAKFKERWQRTPSNELYKPLRAEGTNFRTVLDKAVQADGQVKECYQSHRDTIVLLCK
  PEPELNAAIPSANPAKTMQGSEVVNVLKSLLSNLDEVKKEREGLENDLKSVNFDMTSKFLTALAQDGVINEEALS
  VTELDRVYGGLTTKVQESLKKQEGLLKNIQVSHQEFSKMKQSNNEANLREEVLKNLATAYDNFVELVANLKEGTK
  FYNELTEILVRFQNKCSDIVFARKTERDELLKDLQQSIAREPSAPSIPTPAYQSSPAGGHAPTPPTPAPRTMPPT
  KPQPPARPPPPVLPANRAPSATAPSPVGAGTAAPAPSQTPGSAPPPQAQGPPYPTYPGYPGYCQMPMPMGYNPYA
  YGQYNMPYPPVYHQSPGQAPYPGPQQPSYPFPQPPQQSYYPQQ

• Structural information:
  • Protein Domains: (3..39-)
    (/note="BRO1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00526"-)
  • Interpro: IPR025304  IPR004328  IPR038499  
  • Prosite: PS51180
  • PDB: 2OEV 2OEW 2OEX 2OJQ 2R02 2R03 2R05 2XS1 2XS8 2ZNE 3C3O 3C3Q 3C3R 3E1R 3WUV 4JJY 5V3R 5WA1
  • PDBsum: 2OEV 2OEW 2OEX 2OJQ 2R02 2R03 2R05 2XS1 2XS8 2ZNE 3C3O 3C3Q 3C3R 3E1R 3WUV 4JJY 5V3R 5WA1
  • DIP: 29327
  • STRING: ENSP00000411825
• Other Databases: GeneCards:  PDCD6IP  Malacards:  PDCD6IP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036258	multivesicular body assembly	NAS	biological process
GO:0039702	viral budding via host ESCRT complex	NAS	biological process
GO:0046755	viral budding	IDA	biological process
GO:0090543	Flemming body	IDA	cellular component
GO:0000281	mitotic cytokinesis	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0042641	actomyosin	ISS	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0090559	regulation of membrane permeability	ISS	biological process
GO:0070830	bicellular tight junction assembly	ISS	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	ISS	biological process
GO:0000915	actomyosin contractile ring assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001772	immunological synapse	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0090543	Flemming body	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903553	positive regulation of extracellular exosome assembly	IMP	biological process
GO:1903551	regulation of extracellular exosome assembly	IMP	biological process
GO:1903543	positive regulation of exosomal secretion	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090611	ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway	IMP	biological process
GO:0039702	viral budding via host ESCRT complex	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0031871	proteinase activated receptor binding	IPI	molecular function
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0006997	nucleus organization	IMP	NOT|biological process
GO:0061952	midbody abscission	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010824	regulation of centrosome duplication	IMP	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0070971	endoplasmic reticulum exit site	IMP	cellular component
GO:1901673	regulation of mitotic spindle assembly	IMP	NOT|biological process
GO:0007080	mitotic metaphase plate congression	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq