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FAM199X

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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]

Location of FAM199X on the X chromosome.
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Molecular entity

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Gene

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.

Orthologs
Genus and Species Common name Taxonomy Date of divergence (MYA) Accession # Sequence length (aa) Identity (%) Similarity (%)
Homo sapiens Human Primates 0 NM_207318.4 388 100 100
Macaca mulatta Indochinese rhesus macaque 28.8 NP_001180862.1 388 100 100
Plecturocebus cupreus Coppery titi monkey 43 KAL0588686.1 423 99 100
Mus musculus House mouse Mammal 87 NP_666373.1 388 98 97
Pteropus vampyrus Large flying fox 94 XP_011379288.1 388 99 99
Ornithorhynchus anatinus Platypus 180 XP_028923647.1 390 93 95
Chelydra serpentina Common snapping turtle Reptiles 319 KAG6937128.1 381 90 92
Eublepharis macularius Leopard gecko 319 XP_054853091.1 384 87 89
Gallus gallus Red junglefowl Birds 319 XP_003641135.2 381 90 92
Ranitomeya variabilis Zimmerman's poison frog Amphibian 352 XP_077141317.1 375 89 92
Erpetoichthys calabaricus Reedfish Fish 429 XP_028671530.1 377 85 89
Collichthys lucidus Spinyhead Croaker 429 TKS72713.1 396 78 83
Leucoraja erinaceus Little skate 462 XP_055499985.1 378 81 86
Pristis pectinata Smalltooth sawfish 462 XP_051876775.1 378 81 86
Lethenteron reissneri Asiatic Brook Lamprey Jawless Vertebrate 563 XP_061419915.1 441 59 69
Branchiostoma lanceolatum Common lancelet Invertebrate 581 CAH1254916.1 356 33 51
Nematostella vectensis Starlet Sea Anemone 685 XP_001632934.1 344 31 44
Ixodes scapularis Deerk tick 686 353 31 49
Magallana gigas Pacific Oyster 708 XP_011447698.3 317 30 47
Parasteatoda tepidariorum Common house spider 708 XP_042905439.1 273 28 44
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References

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