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

    Gene ID: 23854, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Def8provided by MGI
    Official Full Name
    differentially expressed in FDCP 8provided by MGI
    Primary source
    MGI:MGI:1346331
    See related
    Ensembl:ENSMUSG00000001482 AllianceGenome:MGI:1346331
    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; D8Ertd713e
    Summary
    Predicted to enable metal ion binding activity. Involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. Is expressed in several structures, including brain; genitourinary system; liver; retina nuclear layer; and spleen. Orthologous to human DEF8 (differentially expressed in FDCP 8 homolog). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 23.0), cerebellum adult (RPKM 12.8) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Def8 in Genome Data Viewer
    Location:
    8 E1; 8 72.1 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (124169725..124190009)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (123442956..123467076)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_22972 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Kremmidiotis G, et al. Genomics, 2001 Aug. PMID 11549317
    2. Def-2, -3, -6 and -8, novel mouse genes differentially expressed in the haemopoietic system. Hotfilder M, et al. Br J Haematol, 1999 Aug. PMID 10460589
    3. PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis. Fujiwara T, et al. JCI Insight, 2016 Oct 20. PMID 27777970, Free PMC Article
    4. Transcriptome analysis of mouse stem cells and early embryos. Sharov AA, et al. PLoS Biol, 2003 Dec. PMID 14691545, Free PMC Article
    5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. def8 was first identified in a retroviral gene-trap screen
      Title: Def-2, -3, -6 and -8, novel mouse genes differentially expressed in the haemopoietic system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

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    Preferred Names
    differentially expressed in FDCP 8

    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_001253783.2 → NP_001240712.1  differentially expressed in FDCP 8 isoform 1

      See identical proteins and their annotated locations for NP_001240712.1

      Status: VALIDATED

      Source sequence(s)
      AC122266
      Consensus CDS
      CCDS57648.1
      UniProtKB/TrEMBL
      G3X9U5
      Conserved Domains (2) summary
      pfam13901
      Location:257 → 454
      zf-RING_9; Putative zinc-RING and/or ribbon
      cl00040
      Location:160 → 210
      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_001253784.2 → NP_001240713.1  differentially expressed in FDCP 8 isoform 2

      See identical proteins and their annotated locations for NP_001240713.1

      Status: VALIDATED

      Source sequence(s)
      AC122266
      Consensus CDS
      CCDS57647.1
      UniProtKB/TrEMBL
      A0A0R4IZW6
      Related
      ENSMUSP00000001522.4, ENSMUST00000001522.10
      Conserved Domains (2) summary
      pfam13901
      Location:245 → 442
      zf-RING_9; Putative zinc-RING and/or ribbon
      cd20819
      Location:143 → 203
      C1_DEF8; protein kinase C conserved region 1 (C1 domain) found in differentially expressed in FDCP 8 (DEF-8) and similar proteins

    3. NM_001281803.2 → NP_001268732.1  differentially expressed in FDCP 8 isoform 3

      See identical proteins and their annotated locations for NP_001268732.1

      Status: VALIDATED

      Source sequence(s)
      AC122266
      Consensus CDS
      CCDS22759.1
      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78
      Related
      ENSMUSP00000104458.2, ENSMUST00000108830.2
      Conserved Domains (2) summary
      pfam13901
      Location:233 → 430
      zf-RING_9; Putative zinc-RING and/or ribbon
      cd20819
      Location:131 → 191
      C1_DEF8; protein kinase C conserved region 1 (C1 domain) found in differentially expressed in FDCP 8 (DEF-8) and similar proteins

    4. NM_001414280.1 → NP_001401209.1  differentially expressed in FDCP 8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC122266

    5. NM_001414281.1 → NP_001401210.1  differentially expressed in FDCP 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC122266
      Related
      ENSMUSP00000090737.4, ENSMUST00000093049.10

    6. NM_001414282.1 → NP_001401211.1  differentially expressed in FDCP 8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/TrEMBL
      G3X9U5
      Related
      ENSMUSP00000104460.2, ENSMUST00000108832.8

    7. NM_001414283.1 → NP_001401212.1  differentially expressed in FDCP 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/TrEMBL
      A0A0R4IZW6

    8. NM_001414284.1 → NP_001401213.1  differentially expressed in FDCP 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/TrEMBL
      A0A0R4IZW6

    9. NM_001414285.1 → NP_001401214.1  differentially expressed in FDCP 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78

    10. NM_001414286.1 → NP_001401215.1  differentially expressed in FDCP 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78

    11. NM_001414287.1 → NP_001401216.1  differentially expressed in FDCP 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122266
      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78

    12. NM_001414288.1 → NP_001401217.1  differentially expressed in FDCP 8 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC122266

    13. NM_001414289.1 → NP_001401218.1  differentially expressed in FDCP 8 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC122266

    14. NM_001414290.1 → NP_001401219.1  differentially expressed in FDCP 8 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC122266

    15. NM_001414291.1 → NP_001401220.1  differentially expressed in FDCP 8 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC122266

    16. NM_001414292.1 → NP_001401221.1  differentially expressed in FDCP 8 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC122266

    17. NM_001414293.1 → NP_001401222.1  differentially expressed in FDCP 8 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC122266

    18. NM_001414294.1 → NP_001401223.1  differentially expressed in FDCP 8 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC122266

    19. NM_054046.6 → NP_473387.1  differentially expressed in FDCP 8 isoform 3

      See identical proteins and their annotated locations for NP_473387.1

      Status: VALIDATED

      Source sequence(s)
      AC122266
      Consensus CDS
      CCDS22759.1
      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78
      Related
      ENSMUSP00000070579.4, ENSMUST00000065534.10
      Conserved Domains (2) summary
      pfam13901
      Location:233 → 430
      zf-RING_9; Putative zinc-RING and/or ribbon
      cd20819
      Location:131 → 191
      C1_DEF8; protein kinase C conserved region 1 (C1 domain) found in differentially expressed in FDCP 8 (DEF-8) and similar proteins

    RNA

    1. NR_182269.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122266

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      124169725..124190009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530977.5 → XP_006531040.1  differentially expressed in FDCP 8 isoform X4

      See identical proteins and their annotated locations for XP_006531040.1

      UniProtKB/Swiss-Prot
      Q3TPT6, Q3UBE6, Q3UZ91, Q8BJN0, Q8BWP0, Q99J78
      Conserved Domains (2) summary
      pfam13901
      Location:233 → 430
      zf-RING_9; Putative zinc-RING and/or ribbon
      cd20819
      Location:131 → 191
      C1_DEF8; protein kinase C conserved region 1 (C1 domain) found in differentially expressed in FDCP 8 (DEF-8) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99J78.1 GenPept UniProtKB/Swiss-Prot:Q99J78

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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