2. Gene
  3. PDCD6IP - programmed cell death 6 interacting protein Gene

PDCD6IP - programmed cell death 6 interacting protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AIP1; ALIX; HP95; DRIP4; MCPH29

Gene ID: 10015 | Gene type: protein coding

About PDCD6IP

Cytogenetic location: 3p22.3 Genomic coordinates (GRCh38): 3:33,798,630-33,869,703 (from NCBI)

This gene has 18 transcripts (splice variants) and 45 orthologues. Ubiquitous expression in colon (RPKM 28.2), esophagus (RPKM 23.0) and 25 other tissues.

Summary

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]

PDCD6IP Products(3)

mRNA Protein Name
NM_001162429.3 NP_001155901.1 programmed cell death 6-interacting protein isoform 2
NM_001256192.2 NP_001243121.1 programmed cell death 6-interacting protein isoform 3
NM_013374.6 NP_037506.2 programmed cell death 6-interacting protein isoform 1

PDCD6IP Protein Structure

BRO1

BRO1: BRO1-like domain (4 - 382)

ALIX_LYPXL_bnd

ALIX_LYPXL_bnd: ALIX V-shaped domain binding to HIV (409 - 702)

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  • 868 a.a.
Protein Preferred Names Protein Names

programmed cell death 6-interacting protein

ALG-2 interacting protein 1

Related Diseases

Diseases Alias
Microcephaly 29, Primary, Autosomal Recessive

MCPH29
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10195 PDCD6IP Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PDCD6IP MGD MGI:1333753
Felis catus PDCD6IP VGNC VGNC:68746
Macaca mulatta PDCD6IP VGNC VGNC:75795
Rattus norvegicus PDCD6IP RGD RGD:68357
Bos taurus PDCD6IP VGNC VGNC:32664
Canis familiaris PDCD6IP VGNC VGNC:44341