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sil1 SIL1 nucleotide exchange factor [ Danio rerio (zebrafish) ]

Gene ID: 568308, updated on 9-Dec-2024

Summary

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Official Symbol
sil1provided by ZNC
Official Full Name
SIL1 nucleotide exchange factorprovided by ZNC
Primary source
ZFIN:ZDB-GENE-160113-49
See related
Ensembl:ENSDARG00000100564 AllianceGenome:ZFIN:ZDB-GENE-160113-49
Gene type
protein coding
RefSeq status
MODEL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
si:ch211-195b11.7
Summary
Acts upstream of or within eye development and skeletal muscle fiber development. Used to study Marinesco-Sjogren syndrome. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous to human SIL1 (SIL1 nucleotide exchange factor). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs
human mouse all
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Genomic context

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See sil1 in Genome Data Viewer
Location:
chromosome: 14
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 14 NC_007125.7 (38795747..38809535, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 14 NC_007125.6 (38455206..38469242, complement)

Chromosome 14 - NC_007125.7Genomic Context describing neighboring genes Neighboring gene casein kinase 1, alpha 1 Neighboring gene si:ch211-195b11.3 Neighboring gene spindle apparatus coiled-coil protein 1 Neighboring gene uncharacterized LOC108192181

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome. Kawahara G, et al. PLoS One, 2016. PMID 27792754, Free PMC Article
  2. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Hathazi D, et al. Brain, 2021 Sep 4. PMID 33792664, Free PMC Article
  3. Kinesin-1 promotes chondrocyte maintenance during skeletal morphogenesis. Santos-Ledo A, et al. PLoS Genet, 2017 Jul. PMID 28715414, Free PMC Article
  4. Why does the zebrafish cloche mutant develop lens cataract? Posner M, et al. PLoS One, 2019. PMID 30861003, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables adenyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
nucleotide exchange factor SIL1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007125.7 Reference GRCz11 Primary Assembly

    Range
    38795747..38809535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021481244.2 → XP_021336919.1  nucleotide exchange factor SIL1

    UniProtKB/TrEMBL
    A0A0G2KDW7, A0A8M9QGW0
    Related
    ENSDARP00000130483.1, ENSDART00000159159.3
    Conserved Domains (2) summary
    sd00043
    Location:180 → 207
    ARM; armadillo repeat [structural motif]
    pfam08609
    Location:142 → 220
    Fes1; Nucleotide exchange factor Fes1

Reference GRCz11 ALT_DRER_TU_1

Genomic

  1. NW_018394925.1 Reference GRCz11 ALT_DRER_TU_1

    Range
    71141..84404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_009291221.4 → XP_009289496.2  nucleotide exchange factor SIL1

    UniProtKB/TrEMBL
    A0A8M3AS71
    Conserved Domains (2) summary
    sd00043
    Location:180 → 207
    ARM; armadillo repeat [structural motif]
    pfam08609
    Location:168 → 220
    Fes1; Nucleotide exchange factor Fes1
Nucleotide Protein Strain
Heading Accession and Version

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