Last updated Location of FAM199X on the X chromosome.
FAM199X, also known as CXorf39, is a gene located on the X chromosome that encodes a protein known as FAM199X.[1] This gene is expressed in most vertebrates, including most mammals, birds, amphibians, and fish.[2] Within humans, this gene is commonly expressed in the brain and thyroid.[2] The gene has been linked to some genetic disorders, such as Pelizaeus–Merzbacher disease, and some cancers, such as Stomach cancer, but FAM199X's role in those diseases is not yet well understood within the scientific community.[3]
FAM199X, also known as CXorf39, is located on the long arm of the X chromosome at Xq22.2 on the plus strand between bases 104,166,453 and 104,195,902 and encodes six exons.[1][3] The gene is located next to an enhancer called LOC130068517, also known as ATAC-STARR-Seq Lymphoblastoid Active Region 29826.[4]
Transcript
Four transcript variants of FAM199X produce two protein isoforms. The four transcript variants are FAM199X-X1 with 7498 nucleotides, FAM199X-X1 with 7495 nucleotides, FAM199X-X2 with 7179 nucleotides, and FAM199X-X1 with 7171 nucleotides.[5] There are six exons in FAM199X-X1 variants and five exons in FAM199X-X2 variants.[1]
FAM199X has two isoforms, each with 6 exons and two variants of each isoform. Isoform x1 encodes for 345 amino acids while Isoform x2 encodes a 205 amino acid protein.[6]
Isoform Table
Transcript Variant
Accession # mRNA
Length (nt)
Exons
Protein isoform
Accession # Protein
Length (aa)
Isoelectric Point (pI)
Variant 1
XM_005262079.4
7495
6
Isoform X1
XP_005262136.1
345
4.84
Variant 2
XM_054326467.1
7498
6
Isoform X1
XP_054182442.1
345
4.84
Variant 3
XM_047441826.1
7179
6
Isoform X2
XP_047297782.1
205
9.07
Variant 4
XM_054326468.1
7171
6
Isoform X2
XP_054182443.1
205
9.07
Protein
There are two protein isoforms of FAM199X, FAM199X-X1 and FAM199X-X2.[7] FAM199X-X1 is 345 amino acids long and 38.61kDa, and FAM199X-X2 is 205 amino acids long and 22.8kDa.[7][8]
Homologs
FAM199X had several highly conserved orthologs amongst mammals, birds, reptiles, amphibians, fish, and less conserved orthologs in chorodates and arachnids. The most distant ortholog detected is the Common Household Spider, Parasteatoda tepidaiorum.
Paralogs
FAM199X has no paralogs.
Evolution
FAM199X evolved around 708 million years ago, with the oldest known ortholog, Parasteatoda tepidaiorum, diverging from human evolution about 708 million years ago.
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