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    PDC phosducin [ Homo sapiens ]

    Gene ID: 5132, updated on 11-May-2012

    Summary

    Official Symbol
    PDCprovided by HGNC
    Official Full Name
    phosducinprovided by HGNC
    Primary source
    HGNC:8759
    See related
    Ensembl:ENSG00000116703; HPRD:01373; MIM:171490; Vega:OTTHUMG00000035575
    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
    PHD; MEKA; PhLP; PhLOP
    Summary
    This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    1q25.2
    Sequence :
    Chromosome: 1; NC_000001.10 (186412698..186430239, complement)

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene proteoglycan 4 Neighboring gene translocated promoter region, nuclear basket protein Neighboring gene chromosome 1 open reading frame 27 Neighboring gene oculomedin Neighboring gene PARK2 co-regulated-like pseudogene Neighboring gene prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P20941 P25098 ADRBK1    HPRD  PubMed  
    P20941 Q9UQM7 CAMK2A    HPRD  PubMed  
    P20941 O43186 CRX    HPRD  PubMed  
    P20941 P17612 PRKACA    HPRD  PubMed  
    P20941 P63104 YWHAZ    HPRD  PubMed  
    BioGRID:111159 BioGRID:106665 ADRBK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:111159 BioGRID:114217 EIF3I    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Olfactory transduction, organism-specific biosystem (from KEGG)
      Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Olfactory transduction, conserved biosystem (from KEGG)
      Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phospholipase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    phototransduction TAS
    Traceable Author Statement
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosducin
    Names
    phosducin
    G beta gamma binding protein
    phosducin-like orphan protein
    33kDA phototransducing protein
    33 kDa phototransducing protein

    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.

    Genomic

    1. NG_009101.1 RefSeqGene

      Range
      5001..22542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002597.3NP_002588.3  phosducin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as PHD, represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AF076464, BQ636049, M33478
      Consensus CDS
      CCDS1370.1
      UniProtKB/Swiss-Prot
      P20941
      UniProtKB/TrEMBL
      Q9UP22
      Related
      ENSP00000375855, OTTHUMP00000033581, ENST00000391997, OTTHUMT00000086347
      Conserved Domains (1) summary
      cd02987
      Location:14225
      Blast Score: 601
      Phd_like_Phd; Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes ...
    2. NM_022576.3NP_072098.1  phosducin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as PHLOP1, has an alternate 5' sequence, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AF076464, BM674109
      Consensus CDS
      CCDS41447.1
      UniProtKB/TrEMBL
      Q9UP22
      Related
      ENSP00000422775, OTTHUMP00000217169, ENST00000497198, OTTHUMT00000086348
      Conserved Domains (1) summary
      cd02987
      Location:10173
      Blast Score: 553
      Phd_like_Phd; Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes ...

    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
      186412698..186430239, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      157647242..157664784, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022577.1: Suppressed sequence

      Description
      NM_022577.1: This RefSeq was permanently suppressed because the transcript represents a chimeric sequence with nts 1-77 aligning to chromosome 3 and 78-1421 to chromosome 1.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF172075.1 None
    genomic AL596220.9 CAI13122.1
    genomic AL663036.5 (2000..4939) None
    genomic CH471067.1 EAW91212.1
      EAW91213.1
      EAW91214.1
      EAW91215.1
    genomic M38058.1 AAA36210.1
    genomic M38059.1 AAA36210.1
    genomic M60720.1 AAA36210.1
    mRNA AF076464.1 AAD43142.1
    mRNA BC093839.1 AAH93839.1
    mRNA BC112134.1 AAI12135.1
    mRNA BM674109.1 None
    mRNA BQ636049.1 None
    mRNA M33478.1 AAA35486.1
    other-genetic BC148616.1 AAI48617.1
    other-genetic BC153182.1 AAI53183.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20941.1 GenPept UniProtKB/Swiss-Prot:P20941
    Q52LP8 GenPept UniProtKB/TrEMBL:Q52LP8
    Q9UP22 GenPept UniProtKB/TrEMBL:Q9UP22

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