BMERB1

Last updated

bMERB domain containing 1 (or bMERB1) is a gene expressed in humans which has broad expression across the brain. This gene codes for bMERB1 domain-containing protein 1 isoform 1. It is predicted that this gene is involved in actin cytoskeleton regulation, microtubule regulation and glial cell migration. [1]

Contents

Gene

Homo sapiens bMERB1 is a protein-coding gene located on Chromosome 16 open reading frame 45 in the cytogenetic band 16p13.11. This gene exists under several aliases, the most common being “MINP” and "c16orf45". bMERB1 spans 2,111 base pairs and contains 6 exons. [2]

mRNA Transcript

Known Transcript Variants [3]
NameSize (bp)Protein Length (aa)Biotype# of Exons
bMERB1-2012111204protein coding6
bMERB1-2021865187protein coding6
bMERB1-2091854151protein coding5
bMERB1-206865175protein coding5
bMERB1-203534134protein coding5
bMERB1-207497115protein coding5
bMERB1-20473788nonsense mediated decay6
bMERB1-21162236nonsense mediated decay5
bMERB1-208934no proteinprocessed transcript4
bMERB1-205462no proteinprocessed transcript2
bMERB1-210546no proteinretained intron4

Figure 1. This table describes the 11 splice site variants of the bMERB1 transcript.

Protein

Protein Sequence

The bMERB1 isoform 1 protein product is composed of 204 amino acids and it is the longest isoform. Isoform 2 is only 187 amino acids long. [4] In the bMERB1 protein, there are two known regions. One such region (DUF3585) has unknown function and spans around 140 amino acids. Much of the DUF region has been conserved across many species going as far back as birds. A much smaller section of this DUF region was found to be conserved as far back as sharks and rays. [5] The other region is considered a “disordered” region and is only about 20 amino acids long.

Protein Composition

The bMERB1 has a molecular weight of about 24 kilodaltons and has an isoelectronic point of 5.93. There are no positive or negative charge clusters in this sequence. The only repeated amino acid sequence was RLRE, which was only repeated twice. It should also be noted that there are no predicted transmembrane regions in this protein and no hydrophobic regions. bMERB1 can be considered a glycine poor protein. [6]

Gene Level Regulation

Expression Pattern

NCBI human transcriptome analyses reveal that the bMERB1 gene has moderate to high expression in most tissues of the body. However, bMERB1 expression is significantly highest in the brain. More specifically, bMERB1 expression is highest in the amygdala and the frontal cortex. In conclusion, although this gene is not limited to expression in only one tissue, there is a definite pattern of high expression in brain tissue. [1]

Abundance and Localization

The bMERB1 protein has a relatively moderate abundance, and this is true across several other species. [7] In studying antibodies to target bMERB1, it was also determined that the protein is expected to be localized in the cytoplasm. [8]

Transcription Factors

Several transcription factors have been identified to bind to the bMERB1 gene promoter and upstream sequence. It can be noted that a significant number of these transcription factors have known expression patterns in brain tissue. This finding is consistent with the significant bMERB1 gene expression in brain tissue. [9]

Protein Level Regulation

Subcellular Localization

In a PSORTII analysis of BMERB1, it is predicted that this protein is generally located in the nucleus (47.8%), the cytoplasm (26.1%) and the cytoskeleton (13%). [10]

Modifications

BMERB1 does not obtain many post-translational modifications. A few modifications are predicted with low confidence, most of which being phosphorylation sites. [10] Although the confidence of these predictions is low, similar results were found using PhosphoSitePlus. [11] Using various DTU Health Tech tools, it was also determined that there are no predicted N-glycosylation or myristylation sites. [12] Along with this, PSORTII reported that this protein contains no motifs or transmembrane regions. [10]

Homology and Evolution

Orthologs

Genus and Species [13] Common NameTaxonomic GroupEstimated Divergence (MYA)Accession NumberSequence Length (aa)Sequence Identity (%)Sequence Similarity (%)
Homo sapiensHuman Primates 0NP_149978.1204100100
Aotus nancymaaeNancy Ma's Night MonkeyPrimates43XP_012332861.123486.386.3
Ochotona princepsAmerican Pika Lagomorpha 87XP_004586852.120495.196.6
Mus MusculusMouse Rodentia 90NP_653101.120395.197.1
Canis lupus familiarisDog (beagle) Carnivora 94XP_03852501320497.0697.1
Ornithorhynchus anatinusDuck-Billed Platypus Monotremata  180XP_001508518.120486.2792.2
Nothoprocta perdicariaChilean Tinamou Tinamiformes 319XP_025909891.120487.795.1
Gallus gallusChicken Galliformes  319NP_001264503.120485.2993.6
Phaethon lepturusWhite-Tailed Seabird Phaethontiformes 319XP_010280262.120079.4190.2
Chelonia mydasGreen Sea Turtle Testudines 319XP_007058204.12088893.8
Varanus komodoensisKomodo Dragon Squamata 319XP_044289683.120779.2390.8
Eleutherodactylus coquiPuerto Rican Coqui Anura 353XP_01841971521072.984.8
Stegastes partitusPerch-Like Fish Perciformes 464XP_008278140.120068.681.6
Chiloscyllium plagiosumCarpet Shark Orectolobiformes 464XP_043568064.120664.0878.6
Petromyzon marinusSea Lamprey Sea lamprey 615XP_032832012.120846.165.3
Danio rerioZebrafish Actinoptergyii (bony fish)435NP_001028910.118454.971.1

Paralogs

There are no paralogs of bMERB1. [13]

Mutation Rate of bMERB1

Evolutionary Sequence Divergence of BMERB1.png

From this graph, it can be noted that the rate of sequence divergence in BMERB1 is between the fast-diverging protein Fibrinogen alpha chain and the slow-diverging Cytochrome C. This would indicate that BMERB1 is not under evolutionary pressure to mutate at an accelerated rate but is also not being prevented from mutating.

Interacting Proteins

Several bMERB1 protein interactions have been identified and their functions also discovered. Generally, the bMERB1 protein interactions have functions likely to be involved in actin cytoskeleton maintenance and microtubule formation/maintenance. [14]

Clinical Significance

No pathogenic genetic mutations have been identified in the bMERB1 sequence. [15]

Related Research Articles

<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.

<span class="mw-page-title-main">C17orf53</span>

C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.

<span class="mw-page-title-main">C16orf46</span> Human gene

Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.

<span class="mw-page-title-main">Transmembrane protein 44</span>

Transmembrane protein 44 is a protein that in humans is encoded by the TMEM44 gene.

<span class="mw-page-title-main">TMEM44</span> Protein-coding gene in the species Homo sapiens

TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.

C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization.

<span class="mw-page-title-main">C19orf44</span> Mammalian protein found in Homo sapiens

Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.

C11orf42 is an uncharacterized protein in Homo sapiens that is encoded by the C11orf42 gene. It is also known as chromosome 11 open reading frame 42 and uncharacterized protein C11orf42, with no other aliases. The gene is mostly conserved in mammals, but it has also been found in rodents, reptiles, fish and worms.

Proline-rich protein 16 (PRR16) is a protein coding gene in Homo sapiens. The protein is known by the alias Largen.

<span class="mw-page-title-main">C16orf90</span> Protein-coding gene in the species Homo sapiens

C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.

<span class="mw-page-title-main">C1orf122</span> Protein-coding gene in the species Homo sapiens

C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.

<span class="mw-page-title-main">C12orf24</span> Protein-coding gene in humans

C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.

TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.

Chromosome 4 open reading frame 50 is a protein that in humans is encoded by the C4orf50 gene. The protein localizes in the nucleus. C4orf50 has orthologs in vertebrates but not invertebrates

<span class="mw-page-title-main">C17orf75</span> Protein-coding gene in the species Homo sapiens

Chromosome 17 open reading frame 75 is a protein that in humans is encoded by the C17orf75 gene. C17orf75 is also known as SRI2 and is a human protein encoding gene located at 17q11.2 on the complementary strand. The protein this gene encodes is also known as NJMU-R1. The C17orf75 gene is ubiquitously expressed at medium-low levels throughout the body and at slightly higher levels in the brain and testes. This protein is thought to be part of a complex associated with golgin-mediated vesicle capture.

<span class="mw-page-title-main">THAP3</span> Protein in Humans

THAP domain-containing protein 3 (THAP3) is a protein that, in Homo sapiens (humans), is encoded by the THAP3 gene. The THAP3 protein is as known as MGC33488, LOC90326, and THAP domain-containing, apoptosis associated protein 3. This protein contains the Thanatos-associated protein (THAP) domain and a host-cell factor 1C binding motif. These domains allow THAP3 to influence a variety of processes, including transcription and neuronal development. THAP3 is ubiquitously expressed in H. sapiens, though expression is highest in the kidneys.

<span class="mw-page-title-main">TMEM144</span> Transmembrane Protein 144

Transmembrane Protein 144 (TMEM144) is a protein in humans encoded by the TMEM144 gene.

<span class="mw-page-title-main">Chromosome 5 open reading frame 47</span> Human C5ORF47 Gene

Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.

<span class="mw-page-title-main">SCRN3</span> Protein-coding gene in the species Homo sapiens

Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.

<span class="mw-page-title-main">FAM131A</span> Information on the FAM131A gene and the protein it encodes

FAM131A is a protein that is encoded by the FAM131A gene in humans. Aliases for FAM131A include C3orf40, FLAT715, and PRO1378.

References

  1. 1 2 "BMERB1 bMERB domain containing 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-29.
  2. "Homo sapiens bMERB domain containing 1 (BMERB1), transcript variant 1, mRNA". 2021-06-26.
  3. "BMERB1 Gene - GeneCards | MERB1 Protein | MERB1 Antibody". www.genecards.org. Retrieved 2022-07-29.
  4. "UniProt". www.uniprot.org. Retrieved 2022-07-29.
  5. "EMBOSS Needle < Pairwise Sequence Alignment < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-07-29.
  6. "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-07-29.
  7. "PAXdb: Protein Abundance Database". www.pax-db.org. Retrieved 2022-07-29.
  8. "CP045 Antibody (PA5-67599)". www.thermofisher.com. Retrieved 2022-07-29.
  9. "The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-07-29.
  10. 1 2 3 "PSORT II Prediction". psort.hgc.jp. Retrieved 2022-07-29.
  11. "PhosphoSitePlus". www.phosphosite.org. Retrieved 2022-07-29.
  12. "Department of Health Technology - DTU Health Tech". www.healthtech.dtu.dk. Retrieved 2022-07-29.
  13. 1 2 "Nucleotide BLAST: Search nucleotide databases using a nucleotide query". blast.ncbi.nlm.nih.gov. Retrieved 2022-07-29.
  14. "14 items (human) - STRING interaction network". string-db.org. Retrieved 2022-07-29.
  15. "Variation Viewer". www.ncbi.nlm.nih.gov. Retrieved 2022-07-29.