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Aliases for PEF1 Gene

Aliases for PEF1 Gene

  • Penta-EF-Hand Domain Containing 1 2 3
  • PEF Protein With A Long N-Terminal Hydrophobic Domain 3 4
  • ABP32 3 4
  • Penta-EF Hand Domain-Containing Protein 1 4
  • Penta-EF Hand Domain Containing 1 3
  • Peflin 2
  • PEF1A 3

External Ids for PEF1 Gene

Previous GeneCards Identifiers for PEF1 Gene

  • GC01M031765
  • GC01U901184
  • GC01M031868
  • GC01M032095
  • GC01M030212

Summaries for PEF1 Gene

Entrez Gene Summary for PEF1 Gene

  • This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

GeneCards Summary for PEF1 Gene

PEF1 (Penta-EF-Hand Domain Containing 1) is a Protein Coding gene. Diseases associated with PEF1 include intermediate charcot-marie-tooth neuropathy. GO annotations related to this gene include poly(A) RNA binding and protein heterodimerization activity. An important paralog of this gene is PDCD6.

Gene Wiki entry for PEF1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEF1 Gene

Genomics for PEF1 Gene

Regulatory Elements for PEF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PEF1 Gene

Chromosome:
1
Start:
31,629,862 bp from pter
End:
31,645,237 bp from pter
Size:
15,376 bases
Orientation:
Minus strand

Genomic View for PEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEF1 Gene

Proteins for PEF1 Gene

  • Protein details for PEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBV8-PEF1_HUMAN
    Recommended name:
    Peflin
    Protein Accession:
    Q9UBV8

    Protein attributes for PEF1 Gene

    Size:
    284 amino acids
    Molecular mass:
    30381 Da
    Quaternary structure:
    • Heterodimer; heterodimerizes with PDCD6. Dissociates from PDCD6 in presence of Ca(2+)

neXtProt entry for PEF1 Gene

Proteomics data for PEF1 Gene at MOPED

Post-translational modifications for PEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PEF1 Gene

Domains & Families for PEF1 Gene

Gene Families for PEF1 Gene

Protein Domains for PEF1 Gene

Suggested Antigen Peptide Sequences for PEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBV8

UniProtKB/Swiss-Prot:

PEF1_HUMAN :
  • Contains 5 EF-hand domains.
Domain:
  • Contains 5 EF-hand domains.
genes like me logo Genes that share domains with PEF1: view

Function for PEF1 Gene

Gene Ontology (GO) - Molecular Function for PEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0046982 protein heterodimerization activity IPI 11278427
genes like me logo Genes that share ontologies with PEF1: view
genes like me logo Genes that share phenotypes with PEF1: view

Animal Model Products

miRNA for PEF1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEF1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEF1 Gene

Localization for PEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEF1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Membrane-associated in the presence of Ca(2+).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEF1 Gene COMPARTMENTS Subcellular localization image for PEF1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for PEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11278427
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PEF1: view

Pathways & Interactions for PEF1 Gene

SuperPathways for PEF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA --
GO:0051592 response to calcium ion IPI 11278427
genes like me logo Genes that share ontologies with PEF1: view

No data available for Pathways by source and SIGNOR curated interactions for PEF1 Gene

Drugs & Compounds for PEF1 Gene

No Compound Related Data Available

Transcripts for PEF1 Gene

mRNA/cDNA for PEF1 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PEF1 Gene

Penta-EF-hand domain containing 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - -
SP6:
SP7: -
SP8: - - - - - - - - - - - -
SP9: - -
SP10: -

Relevant External Links for PEF1 Gene

GeneLoc Exon Structure for
PEF1
ECgene alternative splicing isoforms for
PEF1

Expression for PEF1 Gene

mRNA expression in normal human tissues for PEF1 Gene

Protein differential expression in normal tissues from HIPED for PEF1 Gene

This gene is overexpressed in Bone (7.8) and Urine (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEF1 Gene



SOURCE GeneReport for Unigene cluster for PEF1 Gene Hs.470417

genes like me logo Genes that share expression patterns with PEF1: view

Protein tissue co-expression partners for PEF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEF1 Gene

Orthologs for PEF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PEF1 35
  • 84.98 (n)
  • 85.56 (a)
PEF1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEF1 35
  • 90.56 (n)
  • 93.64 (a)
PEF1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pef1 35
  • 85.45 (n)
  • 86.55 (a)
Pef1 16
Pef1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PEF1 35
  • 99.88 (n)
  • 100 (a)
PEF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pef1 35
  • 81.86 (n)
  • 81.27 (a)
oppossum
(Monodelphis domestica)
Mammalia PEF1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEF1 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEF1 35
  • 76.65 (n)
  • 74.87 (a)
PEF1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEF1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pef1 35
  • 70.49 (n)
  • 73.12 (a)
zebrafish
(Danio rerio)
Actinopterygii pef1 35
  • 65.78 (n)
  • 67.38 (a)
pef1 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006246 35
  • 54.61 (n)
  • 43.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17765 35
  • 54.44 (n)
  • 46.15 (a)
CG17765 36
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEF1 36
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G10300 35
  • 46.34 (n)
  • 37.8 (a)
rice
(Oryza sativa)
Liliopsida Os12g0137100 35
  • 48.86 (n)
  • 40.91 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4642 36
  • 45 (a)
OneToOne
Species with no ortholog for PEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEF1 Gene

ENSEMBL:
Gene Tree for PEF1 (if available)
TreeFam:
Gene Tree for PEF1 (if available)

Paralogs for PEF1 Gene

Paralogs for PEF1 Gene

(2) SIMAP similar genes for PEF1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PEF1 Gene

genes like me logo Genes that share paralogs with PEF1: view

Variants for PEF1 Gene

Sequence variations from dbSNP and Humsavar for PEF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3835520 -- 31,634,951(-) CTTTT(-/T)CATTC intron-variant
rs4949454 -- 31,633,440(+) ATCAA(A/G)CTGAC intron-variant
rs12402191 -- 31,641,833(+) ACTTG(A/G)AGTAT intron-variant, upstream-variant-2KB
rs12744840 -- 31,645,500(+) cttca(C/T)aaatg upstream-variant-2KB
rs16834631 -- 31,645,237(+) GTAAT(G/T)GCTGG utr-variant-5-prime, nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PEF1 Gene

Variant ID Type Subtype PubMed ID
dgv46e1 CNV Complex 17122850
dgv209n71 CNV Loss 21882294
nsv470708 CNV Loss 18288195

Variation tolerance for PEF1 Gene

Residual Variation Intolerance Score: 42.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEF1 Gene

HapMap Linkage Disequilibrium report
PEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEF1 Gene

Disorders for PEF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PEF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
intermediate charcot-marie-tooth neuropathy
- elite association
Search PEF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PEF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEF1
genes like me logo Genes that share disorders with PEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEF1 Gene

Publications for PEF1 Gene

  1. Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions. (PMID: 11883899) Kitaura Y. … Maki M. (Arch. Biochem. Biophys. 2002) 2 23 67
  2. Peflin, a novel member of the five-EF-hand-protein family, is similar to the apoptosis-linked gene 2 (ALG-2) protein but possesses nonapeptide repeats in the N-terminal hydrophobic region. (PMID: 10486255) Kitaura Y. … Maki M. (Biochem. Biophys. Res. Commun. 1999) 2 23 67
  3. The PEF family proteins sorcin and grancalcin interact in vivo and in vitro. (PMID: 12804766) Hansen C. … Berchtold M.W. (FEBS Lett. 2003) 23 67
  4. The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner. (PMID: 12445460) Satoh H. … Maki M. (Biochim. Biophys. Acta 2002) 23 67
  5. Structures, functions and molecular evolution of the penta-EF-hand Ca2+-binding proteins. (PMID: 12445459) Maki M. … Shibata H. (Biochim. Biophys. Acta 2002) 23 67

Products for PEF1 Gene

Sources for PEF1 Gene

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