Pef1 penta-EF hand domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pef1provided by MGI
Official Full Name: penta-EF hand domain containing 1provided by MGI
Primary source: MGI:MGI:1915148
See related: Ensembl:ENSMUSG00000028779 AllianceGenome:MGI:1915148
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Peflin; 2600002E23Rik
Summary: Predicted to enable several functions, including calcium-dependent protein binding activity; protein heterodimerization activity; and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in several processes, including COPII vesicle coating; mesenchymal cell differentiation; and positive regulation of protein monoubiquitination. Predicted to be located in cytoplasm. Predicted to be part of COPII vesicle coat and Cul3-RING ubiquitin ligase complex. Is expressed in cerebral cortex intermediate zone; cerebral cortex ventricular layer; and cortical plate. Orthologous to human PEF1 (penta-EF-hand domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 85.3), large intestine adult (RPKM 83.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 63.43 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (130001349..130021927)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (130107556..130128134)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (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	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like ligase-substrate adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in COPII vesicle coating	IBA Inferred from Biological aspect of Ancestor more info
involved_in COPII vesicle coating	ISO Inferred from Sequence Orthology more info
involved_in COPII vesicle coating	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest cell development	ISO Inferred from Sequence Orthology more info
involved_in neural crest cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest formation	ISO Inferred from Sequence Orthology more info
involved_in neural crest formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein monoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein monoubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	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 COPII vesicle coat	ISS Inferred from Sequence or Structural Similarity more info
part_of Cul3-RING ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: peflin

Names: PEF protein with a long N-terminal hydrophobic domain; penta-EF hand domain-containing protein 1

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_026441.4 → NP_080717.2 peflin

See identical proteins and their annotated locations for NP_080717.2

Status: PROVISIONAL

Source sequence(s)

AL606925

Consensus CDS

CCDS18706.1

UniProtKB/Swiss-Prot

Q8BFY6, Q8VCT5, Q9CYW8, Q9D934

Related

ENSMUSP00000030563.6, ENSMUST00000030563.6

Conserved Domains (4) summary

cd00051
Location:114 → 172

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13405
Location:176 → 205

EF-hand_6; EF-hand domain

pfam13499
Location:114 → 170

EF-hand_7; EF-hand domain pair

cl08302
Location:178 → 269

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...