Pdcd6 programmed cell death 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdcd6provided by MGI
Official Full Name: programmed cell death 6provided by MGI
Primary source: MGI:MGI:109283
See related: Ensembl:ENSMUSG00000021576 AllianceGenome:MGI:109283
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: PS2; Alg2; MA-3; alg-2
Summary: Enables calcium-dependent protein binding activity; metal ion binding activity; and protein homodimerization activity. Involved in response to calcium ion. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process and apoptotic process. Located in cytoplasm. Orthologous to human PDCD6 (programmed cell death 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in large intestine adult (RPKM 54.0), small intestine adult (RPKM 41.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.15 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (74451240..74465445, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (74303121..74317326, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

ALG-2 and peflin regulate COPII targeting and secretion in response to calcium signaling.
Title: ALG-2 and peflin regulate COPII targeting and secretion in response to calcium signaling.
Results provide a better understanding of the target recognition mechanism and conformational change of SOUL in the interaction with ALG-2.
Title: Thermodynamic Characterization of the Ca(2+)-Dependent Interaction Between SOUL and ALG-2.
ALG2 regulates glioblastoma cell proliferation, migration and tumorigenicity.
Title: ALG2 regulates glioblastoma cell proliferation, migration and tumorigenicity.
Substitution of either L52 with Ala or F148 with Ser of ALG-2 caused loss of binding abilities to PLSCR3 lacking type 1 motif but retained those to PLSCR3 lacking type 2 motif
Title: Prediction of a new ligand-binding site for type 2 motif based on the crystal structure of ALG-2 by dry and wet approaches.
ALG-2 is physiologically dispensable for apoptotic responses (ALG-2 protein)
Title: Apoptosis-linked gene 2-deficient mice exhibit normal T-cell development and function.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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 dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables protein-membrane adaptor activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like ligase-substrate adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in COPII vesicle coating	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to heat	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neural crest cell development	ISO Inferred from Sequence Orthology more info
involved_in neural crest formation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein monoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in vascular endothelial growth factor receptor-2 signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of COPII vesicle coat	ISO Inferred from Sequence Orthology more info
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum exit site	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: programmed cell death protein 6

Names: ALG-257; PMP41; apoptosis-linked gene 2 protein; probable calcium-binding protein ALG-2

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_001359996.1 → NP_001346925.1 programmed cell death protein 6 isoform 2

Status: VALIDATED

Source sequence(s)

CT009486

Consensus CDS

CCDS88484.1

UniProtKB/TrEMBL

Q8C5M4

Related

ENSMUSP00000152458.2, ENSMUST00000222759.2

Conserved Domains (1) summary

cd16183
Location:27 → 189

EFh_PEF_ALG-2; EF-hand, calcium binding motif, found in apoptosis-linked gene 2 protein (ALG-2) and similar proteins
NM_011051.3 → NP_035181.1 programmed cell death protein 6 isoform 1

See identical proteins and their annotated locations for NP_035181.1

Status: VALIDATED

Source sequence(s)

AK008610, AK028223, AV299538, BU604816

Consensus CDS

CCDS26642.1

UniProtKB/Swiss-Prot

P12815, Q545I0, Q61145

UniProtKB/TrEMBL

Q8C5M4

Related

ENSMUSP00000022060.6, ENSMUST00000022060.7

Conserved Domains (1) summary

cd16183
Location:27 → 191

EFh_PEF_ALG-2; EF-hand, calcium binding motif, found in apoptosis-linked gene 2 protein (ALG-2) and similar proteins