TMEM249 (original) (raw)

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Protein-coding gene in the species Homo sapiens

TMEM249
Identifiers
Aliases TMEM249, C8ORFK29, TMEM 249, transmembrane protein 249
External IDs MGI: 3647471; HomoloGene: 90450; GeneCards: TMEM249; OMA:TMEM249 - orthologs
Gene location (Human)Chromosome 8 (human)Chr.Chromosome 8 (human)[1]Chromosome 8 (human)Genomic location for TMEM249Genomic location for TMEM249Band8q24.3Start144,352,219 bp[1]End144,354,954 bp[1]
Gene location (Mouse)Chromosome 15 (mouse)Chr.Chromosome 15 (mouse)[2]Chromosome 15 (mouse)Genomic location for TMEM249Genomic location for TMEM249Band15|15 D3Start76,417,413 bp[2]End76,419,566 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright testisleft testistesticleright hemisphere of cerebellummucosa of transverse colonprimary visual cortexgranulocyteright frontal lobeganglionic eminenceBrodmann area 9Top expressed inspermatidtesticlespermatocytemorulaembryosecondary oocyteembryoprimary oocytezygoteolfactory bulbMore reference expression dataBioGPSn/a
OrthologsSpeciesHuman MouseEntrez340393666504EnsemblENSG00000261587ENSG00000285272ENSMUSG00000116376UniProtQ2WGJ8n/aRefSeq (mRNA)NM_001252402NM_001252404NM_001280561NM_001378247RefSeq (protein)NP_001239331NP_001239333NP_001267490n/aLocation (UCSC)Chr 8: 144.35 – 144.35 MbChr 15: 76.42 – 76.42 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

TMEM249 is a protein that in humans is encoded by the C8orfk29 gene.

TMEM249 is located near the end of the long arm of chromosome 8 in humans.[5]

General position of TMEM249 on human chromosome 8 marked by a red line.

TMEM249 is also known as C8orfk29.[6]

Primary sequence and variants or isoforms

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Isoforms and splice variants of TMEM249 provided by NCBI's Aceview and Softberry

The primary sequence found at NCBI[7] and Aceview on NCBI predicts there are five spliceforms, with four closely resembling one another and the fifth missing a large 5' intron region. Softberry reinforces the Aceview data by predicting five exons, which are seen in four of the five spliceforms of Aceview.

The general structure of the TMEM249 transcript has a large 5' UTR followed by exon 1, then a large intron followed by exon 2, a small intron then exon 3. The rest of the protein follows exon 3 with a large intron, exon 4 a small intron then exon 5, the 3' UTR.

The primary transcript contains all five exons and produces a protein that is 235 amino acids long. Transcript 1 and 2 are translated in the 3' to 5' direction while transcripts 3 through 5 are translated in the 5' to 3' direction. The gene is encoded on the minus strand within the chromosome.

20 of TMEM249's orthologs graphed by sequence similarity and date of divergence (MYA)

The only known paralog of human TMEM249 is found in the second isoform of the protein in gorillas. Of the 217 amino acids aligned between gorilla and human TMEM249, 96% are in complete consensus and 99% are conserved.

TMEM249 orthologs includes all groups of life except birds, fungi, archea, protists, and plants. The most distant ortholog, Rozella allomycis, was the most diverged species that qualified as an ortholog. The last shared ancestor between Rozella allomycis and Homo sapiens is the Opisthokonts.

No homologs or homologous domains exist within TMEM249.

No fungi orthologs were found in the search for similar sequences, so it could be assumed that the gene may have arisen in Opisthokonts and proliferated down the animal tree. This would mean the protein diverged too late to evolve through the fungi tree. This would explain why there are no found plant orthologs as the gene would have arisen after animals and plants diverged evolutionarily.[_citation needed_]

Predicted transmembrane domains of human TMEM249.

There are three predicted transmembrane domains. It is unknown whether these transmembrane domains affect the larger structure of the protein complex once properly expressed in tissue. Evolutionary analysis showed that these transmembrane domains are highly conserved across all ortholog taxa.

Post-translational modifications

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TMEM249 predicted serine phosphorylations at the C-terminus of the protein.

There is an area near the 3’ end of the protein that is predicted to be heavily serine phosphorylated. This end of the protein is likely on the cytosolic half of the protein and serves in some activation function of a pathway.

Secondary structure

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Conceptual translation showing the predicted secondary structure of human TMEM249 isoform 1.

TMEM249 has a highly varied structure. Prediction data supports alternating regions of beta sheets and alpha helices. These predictions may support a beta barrel or "helix barrel" through the membrane made up of multiple protein monomers of TMEM249.

The TMEM249 promoter region annotated for predicted transcription factor binding sites.

The promoter region was found using Eldorado from Genomatix.de (source), the region occupies a region upstream of the 5’ region of TMEM249 on the minus strand of chromosome 8. This promoter binds a number of transcription factors as determined by Eldorado at Genomatix.de.

The GEO profile taken from NCBI showing a wide variety of tissues that TMEM249 is present in.

TMEM249 expression is present at a high level in a wide variety of human tissues. GEO tissue profiles for this protein show that this protein is present in a wide variety of locations within the human body. The human protein atlas claims an even wider expression scope for this protein(source).

Interacting Proteins

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There were no known protein interactions for TMEM249.

Clinical Significance

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TMEM249 has no known link to medical disease.

Single nucleotide polymorphisms of TMEM249 as collected by the SNP database on NCBI.

There exist a number of SNPs for TMEM249 in humans. The mutations are scattered for the most part, with the largest changes in amino acids occurring in the domain of unknown function.

  1. ^ a b c ENSG00000285272 GRCh38: Ensembl release 89: ENSG00000261587, ENSG00000285272 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000116376 – 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.
  5. ^ "TMEM249 transmembrane protein 249 [Homo sapiens (human)] - Gene - NCBI".
  6. ^ "TMEM249 Gene - GeneCards | TM249 Protein | TM249 Antibody".
  7. ^ "Homo sapiens chromosome 8, GRCh38.p13 Primary Assembly". 2019-06-14.