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

Gene ID: 23854, updated on 27-Nov-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, Nov 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

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