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    Def8 differentially expressed in FDCP 8 [ Mus musculus (house mouse) ]

    Gene ID: 23854, updated on 31-Jan-2019

    Summary

    Official Symbol
    Def8provided by MGI
    Official Full Name
    differentially expressed in FDCP 8provided by MGI
    Primary source
    MGI:MGI:1346331
    See related
    Ensembl:ENSMUSG00000001482
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DEF-8; AI449518; D8Ertd713e
    Expression
    Ubiquitous expression in kidney adult (RPKM 23.0), cerebellum adult (RPKM 12.8) and 27 other tissues See more
    Orthologs

    Genomic context

    See Def8 in Genome Data Viewer
    Location:
    8 E1; 8 72.1 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (123442956..123463899)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (125966886..125987799)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene melanocortin 1 receptor Neighboring gene tubulin, beta 3 class III Neighboring gene predicted gene, 39275 Neighboring gene AFG3-like AAA ATPase 1

    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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    differentially expressed in FDCP 8

    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_001253783.1NP_001240712.1  differentially expressed in FDCP 8 isoform 1

      See identical proteins and their annotated locations for NP_001240712.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AK050405, AK087778, BY069015, BY713285
      Consensus CDS
      CCDS57648.1
      UniProtKB/Swiss-Prot
      Q99J78
      UniProtKB/TrEMBL
      G3X9U5
      Conserved Domains (2) summary
      pfam13901
      Location:255455
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:160210
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    2. NM_001253784.1NP_001240713.1  differentially expressed in FDCP 8 isoform 2

      See identical proteins and their annotated locations for NP_001240713.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (2) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK050405, AK087778, BY713285
      Consensus CDS
      CCDS57647.1
      UniProtKB/Swiss-Prot
      Q99J78
      UniProtKB/TrEMBL
      A0A0R4IZW6
      Related
      ENSMUSP00000001522.3, ENSMUST00000001522.9
      Conserved Domains (2) summary
      pfam13901
      Location:243443
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:148198
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    3. NM_001281803.1NP_001268732.1  differentially expressed in FDCP 8 isoform 3

      See identical proteins and their annotated locations for NP_001268732.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AK050405, AK087778, BY285979, CD545768, CN705834, CX562217
      Consensus CDS
      CCDS22759.1
      UniProtKB/Swiss-Prot
      Q99J78
      Related
      ENSMUSP00000104458.1, ENSMUST00000108830.1
      Conserved Domains (2) summary
      pfam13901
      Location:231431
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:136186
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    4. NM_054046.5NP_473387.1  differentially expressed in FDCP 8 isoform 3

      See identical proteins and their annotated locations for NP_473387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the coding region that results in the use of a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AK050405, AK087778, AK133979, BY713285
      Consensus CDS
      CCDS22759.1
      UniProtKB/Swiss-Prot
      Q99J78
      Related
      ENSMUSP00000070579.3, ENSMUST00000065534.9
      Conserved Domains (2) summary
      pfam13901
      Location:231431
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:136186
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      123442956..123463899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530975.2XP_006531038.1  differentially expressed in FDCP 8 isoform X1

      See identical proteins and their annotated locations for XP_006531038.1

      UniProtKB/TrEMBL
      G3X9U5
      Related
      ENSMUSP00000104460.1, ENSMUST00000108832.7
      Conserved Domains (2) summary
      pfam13901
      Location:255455
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:160210
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    2. XM_006530978.3XP_006531041.1  differentially expressed in FDCP 8 isoform X3

      See identical proteins and their annotated locations for XP_006531041.1

      UniProtKB/Swiss-Prot
      Q99J78
      Conserved Domains (2) summary
      pfam13901
      Location:231431
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:136186
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    3. XM_006530976.3XP_006531039.1  differentially expressed in FDCP 8 isoform X2

      See identical proteins and their annotated locations for XP_006531039.1

      UniProtKB/Swiss-Prot
      Q99J78
      UniProtKB/TrEMBL
      A0A0R4IZW6
      Conserved Domains (2) summary
      pfam13901
      Location:243443
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:148198
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    4. XM_006530977.3XP_006531040.1  differentially expressed in FDCP 8 isoform X3

      See identical proteins and their annotated locations for XP_006531040.1

      UniProtKB/Swiss-Prot
      Q99J78
      Conserved Domains (2) summary
      pfam13901
      Location:231431
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:136186
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
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