TMEM47

Last updated
TMEM47
Identifiers
Aliases TMEM47 , BCMP1, TM4SF10, transmembrane protein 47, VAB-9
External IDs MGI: 2177570 HomoloGene: 41830 GeneCards: TMEM47
Gene location (Human)
Ideogram human chromosome X.svg
Chr. X chromosome (human) [1]
Human chromosome X ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band Xp21.1Start34,627,064 bp [1]
End34,657,288 bp [1]
RNA expression pattern
PBB GE TMEM47 209655 s at fs.png

PBB GE TMEM47 209656 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

83604

192216

Ensembl

ENSG00000147027

ENSMUSG00000025666

UniProt

Q9BQJ4

Q9JJG6

RefSeq (mRNA)

NM_031442

NM_138751

RefSeq (protein)

NP_113630

NP_620090

Location (UCSC) Chr X: 34.63 – 34.66 Mb Chr X: 81.07 – 81.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene. [5] [6]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Contents

Function

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [6]

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Mitochondrial pyruvate carrier 2 protein-coding gene in the species Homo sapiens

Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

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LMOD3 protein-coding gene in the species Homo sapiens

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KIAA1539 protein-coding gene in the species Homo sapiens

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TMEM22 protein-coding gene in the species Homo sapiens

Transmembrane protein 22 is a protein that in humans is encoded by the TMEM22 gene.

TMEM49 protein-coding gene in the species Homo sapiens

Transmembrane protein 49 is a protein that in humans is encoded by the TMEM49 gene.

TMEM117 protein-coding gene in the species Homo sapiens

Transmembrane protein 117 is a protein that in humans is encoded by the TMEM117 gene.

60S ribosomal protein L10-like protein-coding gene in the species Homo sapiens

60S ribosomal protein L10-like is a protein that in humans is encoded by the RPL10L gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147027 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025666 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Christophe-Hobertus C, Szpirer C, Guyon R, Christophe D (Jul 2003). "Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins". BMC Genomics. 2: 3. doi:10.1186/1471-2164-2-3. PMC   35279  Lock-green.svg. PMID   11472633.
  6. 1 2 "Entrez Gene: TMEM47 transmembrane protein 47".

Further reading

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