TMEM131

Last updated
TMEM131
Identifiers
Aliases TMEM131 , CC28, PRO1048, RW1, YR-23, transmembrane protein 131
External IDs OMIM: 615659 MGI: 1927110 HomoloGene: 32428 GeneCards: TMEM131
Orthologs
SpeciesHumanMouse
Entrez

23505

56030

Ensembl

ENSG00000075568

ENSMUSG00000026116

UniProt

Q92545

O70472

RefSeq (mRNA)

NM_015348
NM_018497

NM_018872

RefSeq (protein)

NP_056163

NP_061360

Location (UCSC) Chr 2: 97.76 – 98 Mb Chr 1: 36.83 – 36.98 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protein 131 (TMEM131) is a protein that is encoded by the TMEM131 gene in humans. [5] The TMEM131 protein contains three domains of unknown function 3651 (DUF3651) [6] and two transmembrane domains. [5] This protein has been implicated as having a role in T cell function and development. [7] [8] TMEM131 also resides in a locus (2q11.1) that is associated with Nievergelt's Syndrome when deleted. [9]

Contents

Role In T Cell Function

TMEM131 has been shown to exhibit hypermethylation in patients with Down Syndrome. [7] The authors of this study proposed that, given TMEM131s supposed function in T cell development and function, this hypermethylation may play a role in the suppressed immune function in patients with Down Syndrome.

TMEM131 has also been shown to be up-regulated during the development and differentiation of T cells, [8] and has been shown to have relatively high levels of expression in T cells relative to other tissue types. [10]

Gene

Overview

Predicted promoter sequence layout as well as potential transcriptional start sites (TSS) as predicted by the Genomatix El Dorado tool. TMEM131 Promoter Schematic Representation.jpg
Predicted promoter sequence layout as well as potential transcriptional start sites (TSS) as predicted by the Genomatix El Dorado tool.

TMEM131 is located on the negative DNA strand (see Sense) of chromosome 2 from 98,372,799 - 98,612,354. [12] The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. [5] Ensembl predicts ten alternative splice forms, four of which are protein coding. [13] Promoter prediction and analysis was carried out using El Dorado [11] through the Genomatix software page. [14] The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The program predicted two potential transcriptional start locations. The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through 98,612,443.

Gene Neighborhood

TMEM131 is located directly adjacent to the ZAP70 gene (98,330,331 - 98,356,323) on the positive DNA strand, as well as numerous pseudogenes at the 2q11.2 locus. A Von Willebrand factor containing gene (VWA3B) is located upstream from TMEM131 on the positive strand (98,703,595 - 98,929,410). [12]

Gene Expression

Example of in situ hybridization data available from BDGP (stage 11 shown). Insitu131952.jpg
Example of in situ hybridization data available from BDGP (stage 11 shown).

TMEM131 is expressed in low to moderate levels throughout most of the body, with slightly increased levels occurring in the lymph nodes, uterus and T cells. [10] Expression data in developing fruit fly embryos is available from the BDGP in situ homepage. [15]

Expression profile from 79 physiologically normal tissues obtained from various sources for TMEM131. TMEM131 GDS596 Expression Profile.png
Expression profile from 79 physiologically normal tissues obtained from various sources for TMEM131.

Protein

Properties/Characteristics

Schematic representation of the TMEM131 protein. Protein Schematic TMEM131.jpg
Schematic representation of the TMEM131 protein.

The primary function of the TMEM131 protein is not well understood. The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 daltons. [16] It has been shown to contain two transmembrane domains at residues 1,091-1,111 and 1,118-1,138. Three DUF3651 regions are located on the N-terminal side of the two adjacent transmembrane domains. These are located at residues 173-245, 502-582, and 639-708. The intercellular location of the protein has not been experimentally determined, but it is thought to reside in either the plasma membrane or endoplasmic reticulum, with each domain on both the N-terminal and C-terminal sides of the transmembrane regions being cytosolic. [17] It contains numerous phosphorylation sites which have been shown both experimentally and with bioinformatic tools. [5] [16] Bioinformatic analysis of the protein using the NetPhos tool [18] predicted 145 potential phosphorylation sites throughout the entire length of the protein. [19]

Protein Interactions

Protein interaction analysis for TMEM131 has been carried out using computational tools. No interactions were identified through the MINT database. [20] A STRING search revealed ten possible protein interactions through text mining, although none of these should be considered actual protein-protein interactions. [21] Closer analysis of the results shows very little potential for these predictions to be real. The IntAct tool was also used, and this revealed a potential interaction had been found with Superoxide dismutase 2 (SOD2), which had been identified in a yeast Two-hybrid screening study. [22]

Conservation

Orthologs

TMEM131 is conserved throughout all of its orthologs. The entire protein is highly conserved in primate orthologs, while conservation is high within the DUF3651 and transmembrane regions in the more distant homologs. [23]

Orthologs were found in species as distantly related to Humans as the Choanoflagellate Monosiga brevicollis using BLAST [24] and the ALIGN tool through the San Diego Super Computer Biology Workbench. [16] The following table gives information on the homologs of TMEM131.

Genus Species Organism Common NameDivergence from Humans (MYA) [25] NCBI Protein Accession NumberSequence Identity [16] Protein LengthCommon Gene Name
Homo sapiens [5] Humans--NP_056163.1100%1883TMEM131
Pan troglodytes [26] Common Chimp6.2XP_515638.299.6%1883TMEM131
Bos taurus [27] Cattle96.6XP_61347492.1%1876TMEM131
Mus musculus [28] Mouse94.5NP_061360.289.7%1877TMEM131
Monodelphis domestica [29] Opossum170.0XM_001367646.281.3%1840TMEM131
Gallus gallus [30] Chicken323.0XM_001233588.276.3%1821TMEM131
Xenopus tropicalis [31] Frog359.0NP_00113555270.3%1877TMEM131
Danio rerio [32] Zebra Fish436.8XP_001923340.159.6%1799Predicted: TMEM131
Caenorhabditis elegans [33] Nematode274.8NP_498059.224.1%1831Hypothetical Protein C27F2.8
Drosophila melanogaster [34] Fruit Fly725.5NP_611073.224.0%1567CG8370
Monosiga brevicollis [35] Choanoflagellate856.0XP_001744482.121.2%1781Hypothetical Protein

Paralog

TMEM131 has a single paralog, TMEM131L or KIAA0922 . [36] This gene is very similar to TMEM131, but it does not include the second two of the three DUF3651 regions.

Related Research Articles

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Iroquois-class homeodomain protein IRX-1, also known as Iroquois homeobox protein 1, is a protein that in humans is encoded by the IRX1 gene. All members of the Iroquois (IRO) family of proteins share two highly conserved features, encoding both a homeodomain and a characteristic IRO sequence motif. Members of this family are known to play numerous roles in early embryo patterning. IRX1 has also been shown to act as a tumor suppressor gene in several forms of cancer.

<span class="mw-page-title-main">KIAA0895</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">FAM83A</span> Protein-coding gene in the species Homo sapiens

Protein FAM83A also known as tumor antigen BJ-TSA-9 is a protein that in humans is encoded by the FAM83A gene.

<span class="mw-page-title-main">TMEM69</span> Protein-coding gene in the species Homo sapiens

TMEM69, also known as Transmembrane protein 69, is a protein that in humans is encoded by the TMEM69 gene. A notable feature of the protein encoded by TMEM69 is the presence of five transmembrane segments.

<span class="mw-page-title-main">Transmembrane Protein 205</span> Protein-coding gene in the species Homo sapiens

Transmembrane Protein 205 (TMEM205) is a protein encoded on chromosome 19 by the TMEM205 gene.

<span class="mw-page-title-main">Protein FAM46B</span> Protein-coding gene in the species Homo sapiens

Protein FAM46B also known as family with sequence similarity 46 member B is a protein that in humans is encoded by the FAM46B gene. FAM46B contains one protein domain of unknown function, DUF1693. Yeast two-hybrid screening has identified three proteins that physically interact with FAM46B. These are ATX1, PEPP2 and DAZAP2.

<span class="mw-page-title-main">CCDC109B</span> Protein found in humans

Coiled-coil domain containing 109B (CCDC109B) is a potential calcium uniporter protein found in the membrane of human cells and is encoded by the CCDC109B gene. While CCDC109B is a transmembrane protein it is unclear if it is located within the cell membrane or mitochondrial membrane.

<span class="mw-page-title-main">CCDC94</span> Protein found in humans

Coiled-coil domain containing 94 (CCDC94) is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein contains a coiled-coil domain, a domain of unknown function (DUF572), an uncharacterized conserved protein (COG5134), and lacks a transmembrane domain.

<span class="mw-page-title-main">EVI5L</span> Protein-coding gene in the species Homo sapiens

EVI5L is a protein that in humans is encoded by the EVI5L gene. EVI5L is a member of the Ras superfamily of monomeric guanine nucleotide-binding (G) proteins, and functions as a GTPase-activating protein (GAP) with a broad specificity. Measurement of in vitro Rab-GAP activity has shown that EVI5L has significant Rab2A- and Rab10-GAP activity.

Transmembrane protein 251, also known as C14orf109 or UPF0694, is a protein that in humans is encoded by the TMEM251 gene. One notable feature of this protein is the presence of proline residues on one of its predicted transmembrane domains., which is a determinant of the intramitochondrial sorting of inner membrane proteins.

<span class="mw-page-title-main">C14orf93</span> Protein-coding gene in the species Homo sapiens

C14orf93 is a protein that is encoded in humans by the C14orf93 gene. It is a globular protein with a conserved C-terminus that is localized to the nucleus. While expressed relatively highly in all tissues except nervous tissue, it is expressed particularly highly in T cells and other immune tissues.

<span class="mw-page-title-main">TMEM176B</span> Protein-coding gene in the species Homo sapiens

Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.

<span class="mw-page-title-main">C2orf73</span> Protein-coding gene in the species Homo sapiens

Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.

<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.

<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">C22orf31</span> Protein-coding gene in the species Homo sapiens

C22orf31 is a protein which in humans is encoded by the C22orf31 gene. The C22orf31 mRNA transcript has an upstream in-frame stop codon, while the protein has a domain of unknown function (DUF4662) spanning the majority of the protein-coding region. The protein has orthologs with high percent similarity in mammals. The most distant orthologs are found in species of bony fish, but C22orf31 is not found in any species of birds or amphibians.

<span class="mw-page-title-main">FAM155B</span> Protein-coding gene in humans

Family with Sequence Similarity 155 Member B is a protein in humans that is encoded by the FAM155B gene. It belongs to a family of proteins whose function is not yet well understood by the scientific community. It is a transmembrane protein that is highly expressed in the heart, thyroid, and brain.

<span class="mw-page-title-main">TMEM247</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 247 is a multi-pass transmembrane protein of unknown function found in Homo sapiens encoded by the TMEM247 gene. Notable in the protein are two transmembrane regions near the c-terminus of the translated polypeptide. Transmembrane protein 247 has been found to be expressed almost entirely in the testes.

<span class="mw-page-title-main">MFSD6L</span> Protein-coding gene in the species Homo sapiens

Major facilitator superfamily domain containing 6 like (MFSD6L) is a protein encoded by the MFSD6L gene in humans. The MFSD6L protein is a transmembrane protein that is part of the major facilitator superfamily (MFS) that uses chemiosmotic gradients to facilitate the transport of small solutes across cell membranes.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000075568 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026116 - 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. 1 2 3 4 5 "NCBI Protein: TMEM131" . Retrieved 15 April 2012.
  6. ↑ "DUF 3651" . Retrieved 28 April 2012.[ permanent dead link ]
  7. 1 2 Kerkel, Kristi (November 2010). "Altered DNA Methylation in Leukocytes with Trisomy 21". PLOS Genet. 6 (11): e1001212. doi: 10.1371/journal.pgen.1001212 . PMC   2987931 . PMID   21124956.
  8. 1 2 Tydell, Chace (1 July 2007). "Molecular Dissection of Prethymic Progenitor Entry into the T Lymphocyte Developmental Pathway". The Journal of Immunology. 179 (1): 421–438. doi: 10.4049/jimmunol.179.1.421 . PMID   17579063 . Retrieved 28 April 2012.
  9. ↑ Steucgen-Gersdorf, E (December 2008). "Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4". Clinical Genetics. 74 (6): 560–5. doi:10.1111/j.1399-0004.2008.01050.x. PMID   18616733. S2CID   32617869.
  10. 1 2 3 "GDS596 / TMEM131 / Homo Sapiens - Gene expression profile from 79 physiologically normal tissues". NCBI.
  11. 1 2 "El Dorado". Genomatix. Retrieved 5 May 2012.
  12. 1 2 "TMEM131: 23505" . Retrieved 28 April 2012.
  13. ↑ "Ensembl: TMEM131" . Retrieved 28 April 2012.
  14. ↑ "Genomatix". Genomatix. Archived from the original on 2 December 2021. Retrieved 5 May 2012.
  15. 1 2 "BDGP in situ" . Retrieved 4 May 2012.
  16. 1 2 3 4 "SDSC Biology Workbench". Archived from the original on 11 August 2003. Retrieved 15 April 2012.
  17. ↑ "Expasy: Psort" . Retrieved 29 April 2012.[ permanent dead link ]
  18. ↑ Blom, N.; Gammeltoft, S.; Brunak, S. (1999). "Sequence- and structure-based prediction of eukaryotic protein phosphorylation sites". Journal of Molecular Biology. 294 (5): 1351–1362. doi:10.1006/jmbi.1999.3310. PMID   10600390. Archived from the original on 10 August 2021. Retrieved 5 May 2012.
  19. ↑ Blom, N. "NetPhos TMEM131". NetPhos. Retrieved 5 May 2012.[ permanent dead link ]
  20. ↑ "MINT TMEM131".
  21. ↑ "STRING TMEM131" . Retrieved 5 May 2012.
  22. ↑ "IntAct TMEM131" . Retrieved 5 May 2012.
  23. ↑ Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ, Higgins DG, Thompson JD (July 2003). "Multiple sequence alignment with the Clustal series of programs". Nucleic Acids Res. 31 (13): 3497–500. doi:10.1093/nar/gkg500. PMC   168907 . PMID   12824352.
  24. ↑ "NCBI BLAST".
  25. ↑ "Time Tree".
  26. ↑ "NCBI Nucleotide: XP_515638.2" . Retrieved 17 April 2012.
  27. ↑ "NCBI Nucleotide: XP_613474" . Retrieved 17 April 2012.
  28. ↑ "NCBI Nucleotide: NP_061360.2" . Retrieved 17 April 2012.
  29. ↑ "NCBI Nucleotide: XM_001367646.2" . Retrieved 28 April 2012.
  30. ↑ "NCBI Nucleotide:XM_001233588.2".
  31. ↑ "NCBI Nucleotide: NP_001135552" . Retrieved 28 April 2012.
  32. ↑ "NCBI Nucleotide: XP_001923340.1".
  33. ↑ "NCBI Nucleotide: NP_498059.2" . Retrieved 28 April 2012.
  34. ↑ "NCBI Nucleotide: NP_611073.2" . Retrieved 28 April 2012.
  35. ↑ "NCBI Nucleotide: XP_001744482.1" . Retrieved 28 April 2012.
  36. ↑ "GeneCards: TMEM131L" . Retrieved 17 April 2012.
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