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

Gene ID: 67898, updated on 30-Apr-2024

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 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. Orthologous to human PEF1 (penta-EF-hand domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum adult (RPKM 85.3), large intestine adult (RPKM 83.0) and 28 other tissues See more
Orthologs
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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_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene 12963 Neighboring gene collagen, type XVI, alpha 1 Neighboring gene predicted gene, 46871 Neighboring gene STARR-positive B cell enhancer ABC_E1656 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129785190-129785373 Neighboring gene predicted gene, 40258 Neighboring gene hypocretin (orexin) receptor 1 Neighboring gene predicted gene, 40259

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein dimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein heterodimerization 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in COPII vesicle coating 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 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 protein monoubiquitination ISO
Inferred from Sequence Orthology
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 Cul3-RING ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_026441.4NP_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:114172
    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:176205
    EF-hand_6; EF-hand domain
    pfam13499
    Location:114170
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:178269
    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 ...

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

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    130001349..130021927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)