Basic Information

Symbol
RAB7A
RNA class
mRNA
Alias
RAB7A, Member RAS Oncogene Family RAB7 RAB7, Member RAS Oncogene Family Ras-Related Protein Rab-7a CMT2B Charcot-Marie-Tooth Neuropathy 2B Ras-Associated Protein RAB7 EC 3.6.5.2 PRO2706
Location (GRCh38)
3:128693669-128825942
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004637.6
Sequence length
2185.0 nt
GC content
0.4668

Transcripts

ID Sequence Length GC content
NM_004637.6 NCBI
AGUCUUGGCCAUAAAGCCUGAGGCGGCGGCAGCGGCGGAGUUGGCGGCU… 2185 nt 0.4668
Summary

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]

Forensic Context

A study in humans using RNA-seq data from 16 normal tissues identified the RAB7A as a housekeeping gene with highly uniform and strong expression across all examined tissues, proposing it for use as a calibration control in biotechnological applications and genomic studies [Eisenberg and Levanon DOI:10.1016/j.tig.2013.05.010].