TMBIM4 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | TMBIM4 , GAAP, LFG4, S1R, ZPRO, CGI-119, transmembrane BAX inhibitor motif containing 4 | ||||||||||||||||||||||||
External IDs | OMIM: 616874 MGI: 1915462 HomoloGene: 56740 GeneCards: TMBIM4 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
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RefSeq (protein) |
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Location (UCSC) | Chr 12: 66.14 – 66.17 Mb | Chr 10: 120.04 – 120.06 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Transmembrane BAX inhibitor motif-containing protein 4 is a protein that in humans is encoded by the TMBIM4 gene. [5] [6] [7] It is also known as humanGolgi anti-apoptotic protein (hGAAP) due to its function and sub-cellular localization.
Human GAAP [8] is a protein present in the Golgi that helps regulate apoptosis, a form of programmed cell death. By regulating the fluxes of Ca+2, an increase of GAAP can help prevent apoptosis. [9] [10] GAAP is also involved in promoting cell migration [11] [12] and has been identified as a novel Golgi cation channel. [13] Other GAAPs can be found in all eucaryotes analyzed and in some bacteria. A viral GAAP (vGAAP) can also be found in some strains of vaccinia virus, the live vaccine used to eradicate smallpox.
Secretory carrier-associated membrane protein 1 is a protein that in humans is encoded by the SCAMP1 gene.
Mediator of RNA polymerase II transcription subunit 4 also known as mediator complex subunit 4 (MED4), a component of Mediator or vitamin D3 receptor-interacting protein complex 36 kDa component (DRIP36) is a protein that in humans is encoded by the MED4 gene.
Serine/threonine-protein kinase D2 or PKD2 is an enzyme that in humans is encoded by the PRKD2 gene.
NSFL1 cofactor p47 is a protein that in humans is encoded by the NSFL1C gene.
Golgi SNAP receptor complex member 1 is a protein that in humans is encoded by the GOSR1 gene.
Nucleoporin 54 (Nup54) is a protein that in humans is encoded by the NUP54 gene.
Eukaryotic translation initiation factor 4E type 2 is a protein that in humans is encoded by the EIF4E2 gene. It belongs to the eukaryotic translation initiation factor 4E family.
Vesicle-trafficking protein SEC22b is a protein that in humans is encoded by the SEC22B gene.
Ergosterol biosynthetic protein 28 is a protein that in humans is encoded by the ERG28 gene.
Protein YIPF5 is a protein that in humans is encoded by the YIPF5 gene.
Activator of 90 kDa heat shock protein ATPase homolog 1 is an enzyme that in humans is encoded by the AHSA1 gene.
Transmembrane protein 59 is a protein that in humans is encoded by the TMEM59 gene.
Coatomer subunit zeta-1 is a protein that in humans is encoded by the COPZ1 gene.
Apoptosis-related protein 3 is a protein that in humans is encoded by the ATRAID gene.
Tubulin-specific chaperone A is a protein that in humans is encoded by the TBCA gene.
RING finger protein 220 is a protein that in humans is encoded by the RNF220 gene.
Sperm-associated antigen 7 is a protein that in humans is encoded by the SPAG7 gene.
39S ribosomal protein L33, mitochondrial is a protein that in humans is encoded by the MRPL33 gene.
Voltage-dependent anion-selective channel protein 2 is a protein that in humans is encoded by the VDAC2 gene on chromosome 10. This protein is a voltage-dependent anion channel and shares high structural homology with the other VDAC isoforms. VDACs are generally involved in the regulation of cell metabolism, mitochondrial apoptosis, and spermatogenesis. Additionally, VDAC2 participates in cardiac contractions and pulmonary circulation, which implicate it in cardiopulmonary diseases. VDAC2 also mediates immune response to infectious bursal disease (IBD).
Voltage-dependent anion-selective channel protein 3 (VDAC3) is a protein that in humans is encoded by the VDAC3 gene on chromosome 8. The protein encoded by this gene is a voltage-dependent anion channel and shares high structural homology with the other VDAC isoforms. Nonetheless, VDAC3 demonstrates limited pore-forming ability and, instead, interacts with other proteins to perform its biological functions, including sperm flagella assembly and centriole assembly. Mutations in VDAC3 have been linked to male infertility, as well as Parkinson’s disease.