TMEM106C | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TMEM106C , transmembrane protein 106C | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1196384; HomoloGene: 11440; GeneCards: TMEM106C; OMA:TMEM106C - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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TMEM106C is a gene that encodes the transmembrane protein 106C (TMEM106C) in Homo sapiens It has been found to be overexpressed in cancer cells and also is related to distal arthrogryposis, [5] [6] a condition of stiff joints and irregular muscle development. The TMEM106C gene contains a domain of unknown function, DUF1356, that spans most of the protein. Transmembrane protein 106C also goes by the aliases MGC5576 or MGC111210, LOC79022. [7]
The TMEM106C gene is located on the long arm of the 12th chromosome. It is found at position 12q13.1. This gene spans from 48357225 to 48362667 on chromosome 12. [7] This gene is in between COL2A1, the human type II collagen gene, and VDR, the human Vitamin D Receptor gene. [8] This protein is found to be an integral part of the endoplasm reticulum membrane. [9]
The TMEM106A protein has a molecular weight of 27.9 kdal with a PI of 6.325. [11] It has 250 amino acids, 230 of which are in the domain of unknown function. No signal peptide has been found for this protein but TMEM106C has transmembrane regions which gives evidence for an internal signal peptide. [12] This protein spans the ER membrane 2 times. [10] There is evidence that these transmembrane regions take on helical structures. [13] The predicted structure of the protein is shown to the left:
TMEM106C is valine-rich with no tryptophan. [11]
There are several areas for post-translational modification for TMEM106A including: [14]
This gene is highly expressed. TMEM106C is expressed 4.9 times the average gene. [7] TMEM106C has ubiquitous expression. It can be found expressed in many tissues types. Tissue types with high expression included the adrenal gland, eye, reproductive organs, cervix and blood. High expression was found using EST and GEO data.
This gene is also found overexpressed in cancer cells. This gene has found to be expressed three times more in adrenal tumor and twice more in bladder carcinoma and retinoblastoma than normal expression.
It is also found to be highly expressed in breast (mammary gland) tumor, cervical tumor, esophageal tumor, leukemia, liver tumor; lung tumor, pancreatic tumor, prostate cancer, and soft tissue/muscle tissue tumor. [20]
TMEM106C is found in all stages of development from embryoid body, blastocyst, fetus, infant, juvenile and adult. [21]
There are two paralogs for TMEM106C. These paralogs are TMEM106A and TMEM106B. [6] Both genes are found highly conserved in Mammalia. TMEM106A is also found to be conserved in invertebrates as well. The protein was found in tapeworms and other invertebrate worms. [22]
Protein | Accession number | Amino acids | Identity percent |
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TMEM106A | AAI46977 | 262 | 36 |
TMEM106B | NP_001127704 | 274 | 43 |
TMEM106C | NP_001137314.1 | 250 | 100 |
TMEM106C is highly conserved in Mammalia. Links to sequences can be found in the table below: [22]
Organism | Common name | Accession number | Amino acids | Identity percent | Notes |
---|---|---|---|---|---|
Homo sapiens | Human | NP_001137314.1 | 250 | 100 | Mammal |
Macaca mulatta | Rhesus macaque | NP_001253653.1 | 249 | 98 | Mammal |
Equus caballus | Horse | XP_001490277.1 | 249 | 90 | Mammal |
Mus musculus | Mouse | NP_001239082.1 | 260 | 79 | Mammal |
Alligator mississippiensis | American alligator | XP_006273403.1 | 271 | 77 | Reptile |
Chrysemys picta bellii | Painted turtle | XP_005291963.1 | 270 | 73 | Reptile |
Falco cherrug | Saker falcon | XP_005436184.1 | 274 | 74 | Aves |
Gallus gallus | Chicken | XP_003643471.1 | 253 | 65 | Aves |
Xenopus tropicalis | Western clawed frog | NP_001016848.1 | 263 | 64 | Amphibia |
Latimeria chalumnae | Coelacanth | XP_005986345.1 | 258 | 61 | Actinoterygii |
Danio rerio | Zebrafish | NP_001070764.1 | 275 | 57 | Actinoterygii |
Transmembrane protein 229b is a protein that in humans is encoded by the TMEM229b gene.
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
TMEM106A is a gene that encodes the transmembrane protein 106A (TMEM106A) in Homo sapiens. It is located at 17q21.31 on the plus strand next to cancer-related genes NBR1 and BRCA1. The TMEM106A gene contains a domain of unknown function, DUF1356.
Transmembrane protein 131-like, alternatively named uncharacterized protein KIAA0922, is an integral transmembrane protein encoded by the human gene KIAA0922 that is significantly conserved in eukaryotes, at least through protists. Although the function of this gene is not yet fully elucidated, initial microarray evidence suggests that it may be involved in immune responses. Furthermore, its paralog, prolyl endopeptidase (PREP) whose function is known, provides clues as to the function of TMEM131L.
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.
CXorf66 also known as Chromosome X Open Reading Frame 66, is a 361aa protein in humans that is encoded by the CXorf66 gene. The protein encoded is predicted to be a type 1 transmembrane protein; however, its exact function is currently unknown.
Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome 8. FAM167A and its paralogs are protein encoding genes containing the conserved domain DUF3259, a protein of unknown function. FAM167A has many orthologs in which the domain of unknown function is highly conserved.
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.
TMEM143 is a protein that in humans is encoded by TMEM143 gene. TMEM143, a dual-pass protein, is predicted to reside in the mitochondria and high expression has been found in both human skeletal muscle and the heart. Interaction with other proteins indicate that TMEM143 could potentially play a role in tumor suppression/expression and cancer regulation.
Leucine-Rich Single-Pass Membrane Protein 1 (LSMEM1) is a protein that, in humans, is encoded by the LSMEM1 gene.
TMEM249 is a protein that in humans is encoded by the C8orfk29 gene.
PRP36 is an extracellular protein in Homo sapiens that is encoded by the PRR36 gene that contains a domain of unknown function, DUF4596, towards the C terminus of the protein. The function of PRP36 is unknown, but high gene expression has been observed in various regions of the brain such as the prefrontal cortex, cerebellum, and the amygdala. PRP36 has one alias: Putative Uncharacterized Protein FLJ22184.
Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. Currently, its function is not well defined. It is transmembrane protein that is predicted to cross the endoplasmic reticulum membrane three times. TMCO4 interacts with other proteins known to play a role in cancer development, hinting at a possible role in the disease of cancer.
Transmembrane protein 255A is a protein that is encoded by the TMEM255A gene. TMEM255A is often referred to as family with sequence similarity 70, member A (FAM70A). The TMEM255A protein is transmembrane and is predicted to be located the nuclear envelope of eukaryote organisms.
Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for extracellular secretion in humans.
Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.
Transmembrane epididymal protein 1 is a transmembrane protein encoded by the TEDDM1 gene. TEDDM1 is also commonly known as TMEM45C and encodes 273 amino acids that contains six alpha-helix transmembrane regions. The protein contains a 118 amino acid length family of unknown function. While the exact function of TEDDM1 is not understood, it is predicted to be an integral component of the plasma membrane.
Transmembrane protein 104 (TMEM104) is a protein that in humans is encoded by the TMEM104 gene. The aliases of TMEM104 are FLJ00021 and FLJ20255. Humans have a 163,255 base pair long gene coding sequence, 4703 base pair long mRNA, and 496 amino acid long protein sequence. In Eukaryotes, the TMEM104 gene is conserved.
Transmembrane protein 248, also known as C7orf42, is a gene that in humans encodes the TMEM248 protein. This gene contains multiple transmembrane domains and is composed of seven exons.TMEM248 is predicted to be a component of the plasma membrane and be involved in vesicular trafficking. It has low tissue specificity, meaning it is ubiquitously expressed in tissues throughout the human body. Orthology analyses determined that TMEM248 is highly conserved, having homology with vertebrates and invertebrates. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.
Transmembrane protein 61 (TMEM61) is a protein that is encoded by the TMEM61 gene in humans. It is located on the first chromosome in humans and is highly expressed in the intestinal regions predominantly the kidney, adrenal gland and pituitary tissues. The protein, unlike other transmembrane protein in the region does not promote cancer growth. However, the TMEM61 protein when inhibited by secondary factors restricts normal activity in the kidney. The human protein shares many Orthologs and has been prevalent on Earth for millions of years.