Human Gene RAB7A (ENST00000265062.8) from GENCODE V44
Description: Homo sapiens RAB7A, member RAS oncogene family (RAB7A), mRNA. (from RefSeq NM_004637) RefSeq Summary (NM_004637): RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000265062.8 Gencode Gene: ENSG00000075785.14 Transcript (Including UTRs) Position: hg38 chr3:128,726,183-128,814,798 Size: 88,616 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr3:128,795,368-128,813,422 Size: 18,055 Coding Exon Count: 5
ID:RAB7A_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-7a; FUNCTION: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient- transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. SUBUNIT: The GTP-bound form interacts with RAC1 (By similarity). Interacts with NTRK1/TRKA (By similarity). Interacts with RILP, PSMA7, RNF115 and FYCO1. Interacts with the PIK3C3/VPS34-PIK3R4 complex. The GTP-bound form interacts with OSBPL1A. Interacts with CLN3. SUBCELLULAR LOCATION: Late endosome. Lysosome. Cytoplasmic vesicle, phagosome. Melanosome. Note=Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Co- localizes with OSBPL1A at the late endosome. TISSUE SPECIFICITY: Widely expressed; high expression found in skeletal muscle. DISEASE: Defects in RAB7A are the cause of Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]; also known as hereditary motor and sensory neuropathy II (HMSN2). CMT2B is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2B is clinically characterized by marked distal muscle weakness and a high frequency of foot ulcers, infections and amputations of the toes. CMT2B inheritance is autosomal dominant. SIMILARITY: Belongs to the small GTPase superfamily. Rab family. SEQUENCE CAUTION: Sequence=BAA91390.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAF83410.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=EAW79303.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAB7A"; WEB RESOURCE: Name=Leiden Muscular Dystrophy pages RAB7A, member RAS oncogene family (RAB7A); Note=Leiden Open Variation Database (LOVD); URL="http://www.dmd.nl/nmdb2/home.php?select_db=RAB7A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P51149
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000045 autophagosome assembly GO:0006622 protein targeting to lysosome GO:0006629 lipid metabolic process GO:0006897 endocytosis GO:0006914 autophagy GO:0007174 epidermal growth factor catabolic process GO:0008333 endosome to lysosome transport GO:0015031 protein transport GO:0016042 lipid catabolic process GO:0019076 viral release from host cell GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0022615 protein to membrane docking GO:0042147 retrograde transport, endosome to Golgi GO:0043312 neutrophil degranulation GO:0045022 early endosome to late endosome transport GO:0045453 bone resorption GO:0045732 positive regulation of protein catabolic process GO:0048524 positive regulation of viral process GO:0061724 lipophagy GO:0090382 phagosome maturation GO:0090383 phagosome acidification GO:0090385 phagosome-lysosome fusion GO:1902583 multi-organism intracellular transport GO:1903542 negative regulation of exosomal secretion GO:1903543 positive regulation of exosomal secretion GO:1905366 negative regulation of intralumenal vesicle formation
US Server
