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def6.L DEF6, guanine nucleotide exchange factor L homeolog [ Xenopus laevis (African clawed frog) ]

Gene ID: 398924, updated on 4-Nov-2024

Summary

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Official Symbol
def6.L
Official Full Name
DEF6, guanine nucleotide exchange factor L homeolog
Primary source
Xenbase:XB-GENE-5796690
Locus tag
XELAEV_18012270mg
See related
EnsemblRapid:ENSXLAG00005028984 AllianceGenome:Xenbase:XB-GENE-5796690
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Xenopus laevis
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as
ibp; def6; slat; Slat2; Slat6; swap70l
Summary
Predicted to be located in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See def6.L in Genome Data Viewer
Location:
chromosome: 2L
Exon count:
11
Annotation release Status Assembly Chr Location
101 current Xenopus_laevis_v10.1 (GCF_017654675.1) 2L NC_054373.1 (71700319..71773276)
100 previous assembly Xenopus_laevis_v2 (GCF_001663975.1) 2L NC_030726.1 (66381335..66454237)

Chromosome 2L - NC_054373.1Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1A L homeolog Neighboring gene uncharacterized LOC121399972 Neighboring gene Fanconi anemia group E protein Neighboring gene ribosomal protein S10 L homeolog

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genetic and genomic tools for Xenopus research: The NIH Xenopus initiative. Klein SL, et al. Dev Dyn, 2002 Dec. PMID 12454917
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Clone Names

  • MGC68775

Gene Ontology Provided by Xenbase

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
differentially expressed in FDCP 6 homolog
Names
DEF6 guanine nucleotide exchange factor

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_001089966.1 → NP_001083435.1  differentially expressed in FDCP 6 homolog

    See identical proteins and their annotated locations for NP_001083435.1

    Status: PROVISIONAL

    Source sequence(s)
    BC060433
    UniProtKB/Swiss-Prot
    Q6PA69
    UniProtKB/TrEMBL
    A0A974DNQ5
    Related
    ENSXLAP00005086482.1, ENSXLAT00005088142.1
    Conserved Domains (5) summary
    cd13273
    Location:201 → 310
    PH_SWAP-70; Switch-associated protein-70 Pleckstrin homology (PH) domain
    pfam00169
    Location:208 → 303
    PH; PH domain
    pfam00769
    Location:338 → 532
    ERM; Ezrin/radixin/moesin family
    cd16269
    Location:397 → 413
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:339 → 431
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...Open this link in a new tab

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

  1. NC_054373.1 Reference Xenopus_laevis_v10.1 Primary Assembly

    Range
    71700319..71773276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PA69.1 GenPept UniProtKB/Swiss-Prot:Q6PA69

Gene LinkOut

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