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    PEF1 penta-EF-hand domain containing 1 [ Homo sapiens ]

    Gene ID: 553115, updated on 11-May-2012

    Summary

    Official Symbol
    PEF1provided by HGNC
    Official Full Name
    penta-EF-hand domain containing 1provided by HGNC
    Primary source
    HGNC:30009
    Locus tag
    UNQ1845/PRO3573
    See related
    Ensembl:ENSG00000162517; HPRD:10143; MIM:610033; Vega:OTTHUMG00000003877
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABP32; PEF1A
    Summary
    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]

    Genomic context

    Location :
    1p34
    Sequence :
    Chromosome: 1; NC_000001.10 (32095463..32110838, complement)
    See PEF1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene tubulointerstitial nephritis antigen-like 1 Neighboring gene hypocretin (orexin) receptor 1 Neighboring gene collagen, type XVI, alpha 1 Neighboring gene brain-specific angiogenesis inhibitor 2 Neighboring gene microRNA 4254

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UBV8 Q9H553 ALG2    HPRD  PubMed  
    Q9UBV8 O75340 PDCD6    HPRD  PubMed  
    BioGRID:139275 BioGRID:109268 H2AFX    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:139275 BioGRID:115333 PDCD6    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:139275 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    response to calcium ion IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_012392.3NP_036524.1  peflin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      AC114488, BC012561, CA307778, DC301714
      Consensus CDS
      CCDS345.1
      UniProtKB/Swiss-Prot
      Q9UBV8
      Related
      ENSP00000362807, OTTHUMP00000003953, ENST00000373703, OTTHUMT00000011046
      Conserved Domains (3) summary
      cd00051
      Location:123181
      Blast Score: 111
      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 ...
      COG5126
      Location:183281
      Blast Score: 112
      FRQ1; Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]
      pfam13499
      Location:124180
      Blast Score: 101
      EF_hand_5; EF-hand domain pair

    RNA

    1. NR_033686.1 RNA Sequence

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC114488, BC012561, BG546473, CA307778, DC301714
    2. NR_033688.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC114488, BC012561, BI826532, CA307778, DB024828

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      32095463..32110838, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      30212972..30228346, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC114488.3 (65153..80159) None
    genomic CH471059.2 EAX07598.1
      EAX07599.1
    mRNA AB018357.1 BAA84922.1
    mRNA AB026628.1 BAA85163.1
    mRNA AK001420.1 BAA91680.1
    mRNA AK092483.1 None
    mRNA AK301226.1 BAG62799.1
    mRNA AY359011.1 AAQ89370.1
    mRNA BC002773.2 AAH02773.1
    mRNA BC012561.1 AAH12561.1
    mRNA BG546473.1 None
    mRNA BI826532.1 None
    mRNA CA307778.1 None
    mRNA CR542139.1 CAG46936.1
    mRNA DB024828.1 None
    mRNA DC301714.1 None
    other-genetic HQ447149.1 ADQ31636.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBV8.1 GenPept UniProtKB/Swiss-Prot:Q9UBV8

      Supplemental Content

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