FBXO38

Last updated
FBXO38
Identifiers
Aliases FBXO38 , Fbx38, HMN2D, MOKA, SP329, F-box protein 38, FBX38
External IDs OMIM: 608533 MGI: 2444639 GeneCards: FBXO38
Gene location (Human)
Ideogram human chromosome 5.svg
Chr. Chromosome 5 (human) [1]
Human chromosome 5 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 5q32Start148,383,935 bp [1]
End148,442,836 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

81545

107035

Ensembl

ENSG00000145868

ENSMUSG00000042211

UniProt

Q6PIJ6

Q8BMI0

RefSeq (mRNA)

NM_001271723
NM_030793
NM_205836

NM_134136
NM_001361088
NM_001361089
NM_001361090
NM_001361091

RefSeq (protein)

NP_001258652
NP_110420
NP_995308

NP_598897
NP_001348017
NP_001348018
NP_001348019
NP_001348020

Location (UCSC) Chr 5: 148.38 – 148.44 Mb Chr 18: 62.5 – 62.55 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

F-box only protein 38 (FBXO38) is a protein that in humans is encoded by the FBXO38 gene.

Protein Biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene Basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Mutations in the FBXO38 gene are associated with distal spinal muscular atrophy with calf predominance.

Mutation A permanent change of the nucleotide sequence of the genome of an organism

In biology, a mutation is the alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000145868 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042211 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

The UCSC Genome Browser is an on-line, and downloadable, genome browser hosted by the University of California, Santa Cruz (UCSC). It is an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations. The Browser is a graphical viewer optimized to support fast interactive performance and is an open-source, web-based tool suite built on top of a MySQL database for rapid visualization, examination, and querying of the data at many levels. The Genome Browser Database, browsing tools, downloadable data files, and documentation can all be found on the UCSC Genome Bioinformatics website.


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