TMEM127

Last updated
TMEM127
Identifiers
Aliases TMEM127 , transmembrane protein 127
External IDs OMIM: 613403 MGI: 1916720 HomoloGene: 9877 GeneCards: TMEM127
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032218
NM_001193304
NM_017849

NM_175145
NM_001362704

RefSeq (protein)

NP_001180233
NP_060319

NP_780354
NP_001349633

Location (UCSC) Chr 2: 96.25 – 96.27 Mb Chr 2: 127.25 – 127.26 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protein 127 (TMEM127) is a transmembrane protein which is encoded by the TMEM127 gene. [5] It has been demonstrated to be a negative regulator MTOR signalling. [6] TMEM127 is a tumor suppressor gene, inactivating germline mutations in which causes hereditary pheochromocytoma and paraganglioma. [6] [7]

Related Research Articles

SDHD Protein-coding gene in the species Homo sapiens

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the SDHD gene. Names previously used for SDHD were PGL and PGL1. Succinate dehydrogenase is an important enzyme in both the citric acid cycle and the electron transport chain.

Succinate dehydrogenase complex subunit C

Succinate dehydrogenase complex subunit C, also known as succinate dehydrogenase cytochrome b560 subunit, mitochondrial, is a protein that in humans is encoded by the SDHC gene. This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with pheochromocytomas and paragangliomas. Alternatively spliced transcript variants have been described.

SDHB

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (SDHB) also known as iron-sulfur subunit of complex II (Ip) is a protein that in humans is encoded by the SDHB gene.

Mitochondrial 2-oxoglutarate/malate carrier protein

Mitochondrial 2-oxoglutarate/malate carrier protein is a protein that in humans is encoded by the SLC25A11 gene. Inactivating mutations in this gene predispose to metastasic paraganglioma.

TMEM43

Transmembrane protein 43 is a protein that in humans is encoded by the TMEM43 gene. TMEM43 may have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. However, the localization of TMEM43 in myocardial tissue is controversial discussed. Franke et al. demonstrated that TMEM43 is localized at the intercalated disc but not at the nuclear envelope. In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma. Mutations in TMEM43 are associated with ARVD and EDMD7.

TMEM47

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.

TMEM98

Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this protein is currently unknown. TMEM98 is also known as UNQ536/PRO1079.

TMEM216

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.

PRRT2

Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.

TMEM138

Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.

TMEM106A

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 205

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

TMEM106C

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, 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.

Transmembrane protein 151b transmembrane protein

Transmembrane protein 151B is a protein that in humans is encoded by the TMEM151B gene.

TMEM249

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

TMEM176B

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.

Transmembrane protein 255A

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.

Transmembrane protein 44

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

Transmembrane protein 230

Transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene.

TMEM171

Transmembrane protein 171 (TMEM171) is a protein that in humans is encoded by the TMEM171 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000135956 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034850 - 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. "TMEM127 transmembrane protein 127 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-03-09.
  6. 1 2 Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics. 42 (3): 229–33. doi:10.1038/ng.533. PMC   2998199 . PMID   20154675.
  7. Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (August 2011). "Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites". The Journal of Clinical Endocrinology and Metabolism. 96 (8): E1279-82. doi: 10.1210/jc.2011-0114 . PMID   21613359.