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smn1.L survival of motor neuron 1 L homeolog [ Xenopus laevis (African clawed frog) ]

Gene ID: 398438, updated on 4-Nov-2024

Summary

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Official Symbol
smn1.L
Official Full Name
survival of motor neuron 1 L homeolog
Primary source
Xenbase:XB-GENE-865839
Locus tag
XELAEV_18008131mg
See related
EnsemblRapid:ENSXLAG00005007421 AllianceGenome:Xenbase:XB-GENE-865839
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
smn; smn2; smnc; bcd541; smn2.L; gemin-1; c-bcd541
Summary
Predicted to enable RNA binding activity. Predicted to act upstream of or within RNA splicing; mRNA processing; and nervous system development. Predicted to be located in several cellular components, including Z disc; nuclear body; and perikaryon. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to human SMN1 (survival of motor neuron 1, telomeric). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See smn1.L in Genome Data Viewer
Location:
chromosome: 1L
Exon count:
9
Annotation release Status Assembly Chr Location
101 current Xenopus_laevis_v10.1 (GCF_017654675.1) 1L NC_054371.1 (198683695..198698260, complement)
100 previous assembly Xenopus_laevis_v2 (GCF_001663975.1) 1L NC_030724.1 (185561874..185576782, complement)

Chromosome 1L - NC_054371.1Genomic Context describing neighboring genes Neighboring gene NLR family apoptosis inhibitory protein gene 4 L homeolog Neighboring gene NLR family apoptosis inhibitory protein gene 5 L homeolog Neighboring gene BDP1 general transcription factor IIIB subunit L homeolog Neighboring gene methylcrotonyl-CoA carboxylase subunit 2 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. Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin. Jones KW, et al. J Biol Chem, 2001 Oct 19. PMID 11509571
  2. Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle. Piazzon N, et al. Nucleic Acids Res, 2013 Jan. PMID 23221635, Free PMC Article
  3. Genetic and genomic tools for Xenopus research: The NIH Xenopus initiative. Klein SL, et al. Dev Dyn, 2002 Dec. PMID 12454917
  4. 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by Xenbase

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within RNA splicing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within mRNA processing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Cajal body IEA
Inferred from Electronic Annotation
more info
  
located_in Gemini of coiled bodies IEA
Inferred from Electronic Annotation
more info
  
located_in Z disc IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
survival of motor neuron 1 L homeolog
Names
gemin 1
survival of motor neuron 2, centromeric L homeolog

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_001088917.1 → NP_001082386.1  survival of motor neuron 1 L homeolog

    See identical proteins and their annotated locations for NP_001082386.1

    Status: PROVISIONAL

    Source sequence(s)
    BC068721
    UniProtKB/TrEMBL
    A0A974E469, Q6NU78, Q90WY9
    Related
    ENSXLAP00005021159.1, ENSXLAT00005021814.1
    Conserved Domains (1) summary
    pfam06003
    Location:18 → 282
    SMN; Survival motor neuron protein (SMN)

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_054371.1 Reference Xenopus_laevis_v10.1 Primary Assembly

    Range
    198683695..198698260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_018239232.2 → XP_018094721.1  survival of motor neuron 1 L homeolog isoform X1

    UniProtKB/TrEMBL
    A0A8J0U155, Q90WY9
    Related
    ENSXLAP00005021188.1, ENSXLAT00005021850.1
Nucleotide Protein Strain
Heading Accession and Version

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